Variant report

Variant	rs77295997
Chromosome Location	chr4:128984943-128984944
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
2	chr4:128884631..128886796-chr4:128984225..128985783,2	K562	blood:
3	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
4	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
5	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
6	chr4:128869172..128872005-chr4:128982512..128984948,2	K562	blood:
7	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:
8	chr4:128800672..128803742-chr4:128979765..128985676,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction
ENSG00000142731	Chromatin interaction
ENSG00000164070	Chromatin interaction
ENSG00000164074	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000164073	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-128985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:128983800-128985800	Weak transcription	Psoas Muscle	Psoas
3	chr4:128983800-128990200	Weak transcription	Gastric	stomach
4	chr4:128983800-128996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:128983800-128996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:128983800-128996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
9	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
10	chr4:128984000-128985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:128984000-128990400	Weak transcription	Left Ventricle	heart
12	chr4:128984000-128999000	Weak transcription	Osteobl	bone
13	chr4:128984200-128985800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:128984200-128986000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:128984200-128996200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:128984200-128997600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:128984200-128998800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:128984200-129000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:128984200-129003200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:128984200-129003200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:128984200-129003200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:128984200-129018800	Weak transcription	A549	lung
23	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
25	chr4:128984200-129035200	Weak transcription	NHLF	lung
26	chr4:128984400-128985000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:128984400-128985000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:128984400-128985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:128984400-128985800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:128984400-128985800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:128984400-128986000	Enhancers	Dnd41	blood
32	chr4:128984400-128986400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:128984400-128986600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:128984400-128986600	Weak transcription	Fetal Brain Female	brain
35	chr4:128984400-128987000	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:128984400-128987400	Enhancers	Liver	Liver
37	chr4:128984400-128988600	Weak transcription	Fetal Heart	heart
38	chr4:128984400-128990200	Weak transcription	Fetal Stomach	stomach
39	chr4:128984400-128990400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:128984400-128996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:128984400-128996200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:128984400-128996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:128984400-128996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:128984400-128996200	Weak transcription	Right Ventricle	heart
45	chr4:128984400-128996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:128984400-128996400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:128984400-128996400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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