Variant report

Variant	rs4689810
Chromosome Location	chr4:7632330-7632331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10937846	0.98[ASN][1000 genomes]
rs11723630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11735230	0.99[ASN][1000 genomes]
rs11737254	0.96[ASN][1000 genomes]
rs12509359	0.93[ASN][1000 genomes]
rs13120915	0.86[ASN][1000 genomes]
rs1468250	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2234766	0.94[ASN][1000 genomes]
rs34339711	0.91[ASN][1000 genomes]
rs34741744	0.94[ASN][1000 genomes]
rs34846328	0.91[ASN][1000 genomes]
rs35258083	0.94[ASN][1000 genomes]
rs4689145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4689146	0.98[ASN][1000 genomes]
rs4689808	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4689809	1.00[ASN][1000 genomes]
rs4689812	0.86[ASN][1000 genomes]
rs61574353	0.92[ASN][1000 genomes]
rs62277516	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
6	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv517503	chr4:7632330-7639906	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7627400-7632400	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7628200-7632400	Weak transcription	Fetal Brain Female	brain
3	chr4:7631200-7633800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7631200-7635000	Enhancers	Fetal Brain Male	brain
5	chr4:7631400-7632400	Enhancers	NH-A	brain
6	chr4:7631600-7632400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:7631600-7632400	Enhancers	HSMMtube	muscle
8	chr4:7631600-7633200	Flanking Active TSS	HepG2	liver
9	chr4:7631600-7633400	Enhancers	Ovary	ovary
10	chr4:7631600-7634600	Enhancers	Brain Hippocampus Middle	brain
11	chr4:7631600-7635200	Enhancers	Right Ventricle	heart
12	chr4:7631800-7632400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:7631800-7632400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:7631800-7632400	Enhancers	NHDF-Ad	bronchial
15	chr4:7631800-7632400	Enhancers	NHLF	lung
16	chr4:7631800-7632600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7631800-7632800	Enhancers	HSMM	muscle
18	chr4:7631800-7633400	Enhancers	HUVEC	blood vessel
19	chr4:7631800-7633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:7631800-7633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:7631800-7633800	Enhancers	HMEC	breast
22	chr4:7631800-7634000	Enhancers	Brain Angular Gyrus	brain
23	chr4:7631800-7634600	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:7631800-7634600	Enhancers	Brain Substantia Nigra	brain
25	chr4:7631800-7634600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr4:7631800-7634600	Enhancers	Left Ventricle	heart
27	chr4:7631800-7634800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:7631800-7635200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:7632000-7632400	Enhancers	NHEK	skin
30	chr4:7632000-7632400	Enhancers	Osteobl	bone
31	chr4:7632000-7632800	Active TSS	Colon Smooth Muscle	Colon
32	chr4:7632000-7633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:7632000-7633200	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:7632000-7633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:7632000-7633600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:7632000-7634000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr4:7632200-7632400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:7632200-7632400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:7632200-7632400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:7632200-7632400	Enhancers	A549	lung
42	chr4:7632200-7632600	Enhancers	Esophagus	oesophagus
43	chr4:7632200-7632600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr4:7632200-7633000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:7632200-7633000	Enhancers	Brain Germinal Matrix	brain
46	chr4:7632200-7633000	Enhancers	Fetal Muscle Leg	muscle
47	chr4:7632200-7633000	Enhancers	Spleen	Spleen
48	chr4:7632200-7633200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
49	chr4:7632200-7634600	Enhancers	Right Atrium	heart

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