Variant report

Variant	rs562473270
Chromosome Location	chr4:128983065-128983066
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
2	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
3	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:
4	chr4:128869172..128871004-chr4:128982512..128984743,2	K562	blood:
5	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
6	chr4:128800019..128803742-chr4:128979765..128984325,9	K562	blood:
7	chr4:128885127..128890546-chr4:128980550..128983845,11	K562	blood:
8	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
9	chr4:128981817..128983526-chr4:129043171..129045384,2	MCF-7	breast:
10	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
11	chr4:128884064..128888795-chr4:128980591..128984632,7	MCF-7	breast:
12	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
13	chr4:128980817..128984026-chr4:129207052..129210590,3	MCF-7	breast:
14	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
15	chr4:128869172..128872005-chr4:128982512..128984948,2	K562	blood:
16	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
17	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:
18	chr4:128980375..128984020-chr4:128989687..128993521,7	MCF-7	breast:
19	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:
20	chr4:128800672..128803742-chr4:128979765..128985676,12	K562	blood:
21	chr4:128593863..128595593-chr4:128981619..128984198,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241651	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000164066	Chromatin interaction
ENSG00000142731	Chromatin interaction
ENSG00000164073	Chromatin interaction
ENSG00000164070	Chromatin interaction
ENSG00000164074	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv1800378	chr4:128954647-128986874	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	esv1801389	chr4:128954647-128986874	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	esv1802601	chr4:128954647-128986874	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	esv3353674	chr4:128958396-128983454	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	esv3430549	chr4:128958396-128987680	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	esv3385008	chr4:128959396-128991050	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	esv1795256	chr4:128960569-128983211	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	esv1797884	chr4:128960569-128983211	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	esv1800439	chr4:128972357-128986874	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	esv1800138	chr4:128981336-128983211	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	esv1803700	chr4:128981336-128983211	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	esv1836544	chr4:128981336-128983211	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	esv1838939	chr4:128981336-128983211	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	esv1802578	chr4:128981336-128986874	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	esv1836174	chr4:128981336-128995640	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
31	esv1837247	chr4:128981336-128995640	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
32	esv13297	chr4:128982058-128983393	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
33	esv1792542	chr4:128982085-128983211	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
34	esv1793203	chr4:128982085-128983211	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
35	esv1794122	chr4:128982085-128983211	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
36	esv1796479	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
37	esv1798956	chr4:128982085-128983211	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
38	esv1799109	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
39	esv1807268	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
40	esv1808067	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
41	esv1809869	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
42	esv1813242	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
43	esv1817696	chr4:128982085-128983211	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
44	esv1820653	chr4:128982085-128983211	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
45	esv1821239	chr4:128982085-128983211	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
46	esv1824611	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
47	esv1831821	chr4:128982085-128983211	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
48	esv1834238	chr4:128982085-128983211	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
49	esv1834924	chr4:128982085-128983211	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
50	esv1836767	chr4:128982085-128983211	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128981000-128983200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr4:128981000-128983600	Active TSS	Liver	Liver
3	chr4:128981000-128983800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:128981000-128984400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:128981000-128984400	Active TSS	Duodenum Mucosa	Duodenum
6	chr4:128981000-128984400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:128981000-128984400	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:128981200-128983200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr4:128981200-128983400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:128981200-128983600	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr4:128981200-128983600	Active TSS	Colon Smooth Muscle	Colon
12	chr4:128981200-128983600	Active TSS	Osteobl	bone
13	chr4:128981200-128983800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:128981200-128983800	Active TSS	Brain Hippocampus Middle	brain
15	chr4:128981200-128983800	Active TSS	Psoas Muscle	Psoas
16	chr4:128981200-128984000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:128981200-128984000	Active TSS	NHEK	skin
18	chr4:128981200-128984200	Active TSS	Brain Angular Gyrus	brain
19	chr4:128981200-128984200	Active TSS	Fetal Intestine Large	intestine
20	chr4:128981200-128984200	Active TSS	GM12878-XiMat	blood
21	chr4:128981200-128984400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:128981200-128984400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr4:128981200-128984400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:128981200-128984400	Active TSS	Fetal Intestine Small	intestine
25	chr4:128981200-128984400	Active TSS	Fetal Kidney	kidney
26	chr4:128981200-128984400	Active TSS	Fetal Stomach	stomach
27	chr4:128981200-128984400	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr4:128981400-128983400	Active TSS	Fetal Lung	lung
29	chr4:128981400-128983400	Active TSS	Fetal Muscle Trunk	muscle
30	chr4:128981400-128983400	Active TSS	Fetal Thymus	thymus
31	chr4:128981400-128983400	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:128981400-128983400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr4:128981400-128983400	Active TSS	Thymus	Thymus
34	chr4:128981400-128983600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:128981400-128983600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:128981400-128983600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:128981400-128983600	Active TSS	Brain Anterior Caudate	brain
38	chr4:128981400-128983800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:128981400-128983800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:128981400-128983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:128981400-128983800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:128981400-128983800	Active TSS	Esophagus	oesophagus
43	chr4:128981400-128984000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:128981400-128984000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr4:128981400-128984000	Active TSS	Brain Cingulate Gyrus	brain
46	chr4:128981400-128984000	Active TSS	Colonic Mucosa	Colon
47	chr4:128981400-128984000	Active TSS	Left Ventricle	heart
48	chr4:128981400-128984000	Active TSS	Ovary	ovary
49	chr4:128981400-128984200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr4:128981400-128984200	Active TSS	H1 Cell Line	embryonic stem cell

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