Variant report

Variant	rs576629966
Chromosome Location	chr4:128984286-128984287
allele	-/AAG
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
2	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:
3	chr4:128869172..128871004-chr4:128982512..128984743,2	K562	blood:
4	chr4:128884631..128886796-chr4:128984225..128985783,2	K562	blood:
5	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
6	chr4:128800019..128803742-chr4:128979765..128984325,9	K562	blood:
7	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
8	chr4:128884064..128888795-chr4:128980591..128984632,7	MCF-7	breast:
9	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
10	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
11	chr4:128869172..128872005-chr4:128982512..128984948,2	K562	blood:
12	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
13	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:
14	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:
15	chr4:128800672..128803742-chr4:128979765..128985676,12	K562	blood:

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

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	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
20	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
21	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
22	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
23	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
24	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
25	nsv595391	chr4:128982085-128985152	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
26	esv1829517	chr4:128982085-129012638	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
27	esv1831536	chr4:128982085-129012638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
28	nsv595392	chr4:128982085-129012638	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
29	nsv595393	chr4:128982137-129012638	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
30	esv1840969	chr4:128982254-129012181	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
31	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128981000-128984400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:128981000-128984400	Active TSS	Duodenum Mucosa	Duodenum
3	chr4:128981000-128984400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:128981000-128984400	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:128981200-128984400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:128981200-128984400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:128981200-128984400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:128981200-128984400	Active TSS	Fetal Intestine Small	intestine
9	chr4:128981200-128984400	Active TSS	Fetal Kidney	kidney
10	chr4:128981200-128984400	Active TSS	Fetal Stomach	stomach
11	chr4:128981200-128984400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr4:128981400-128984400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr4:128981400-128984400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:128981400-128984400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr4:128981400-128984400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:128981400-128984600	Active TSS	Pancreas	Pancrea
17	chr4:128981400-128984600	Active TSS	HepG2	liver
18	chr4:128981400-128984600	Active TSS	HSMM	muscle
19	chr4:128981600-128984400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:128981600-128984400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:128981800-128984400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:128981800-128984400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:128982200-128984400	Active TSS	NH-A	brain
24	chr4:128982800-128984400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr4:128983200-128984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:128983400-128984400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:128983400-128984400	Flanking Active TSS	Dnd41	blood
28	chr4:128983600-128984400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:128983600-128984400	Flanking Active TSS	Liver	Liver
30	chr4:128983800-128984400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:128983800-128984400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:128983800-128984400	Enhancers	Primary B cells from cord blood	blood
33	chr4:128983800-128984400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr4:128983800-128984400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:128983800-128984400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:128983800-128984400	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:128983800-128985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:128983800-128985800	Weak transcription	Psoas Muscle	Psoas
39	chr4:128983800-128990200	Weak transcription	Gastric	stomach
40	chr4:128983800-128996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:128983800-128996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:128983800-128996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
45	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
46	chr4:128984000-128984400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:128984000-128984400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:128984000-128984400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr4:128984000-128984400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr4:128984000-128984400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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