Variant report

Variant	rs7682611
Chromosome Location	chr4:7832271-7832272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7821478..7824762-chr4:7830984..7832919,3	K562	blood:
2	chr4:7813012..7814874-chr4:7831248..7833770,2	K562	blood:
3	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:
4	chr4:7828718..7832914-chr4:7842245..7845071,3	K562	blood:
5	chr4:7824818..7826333-chr4:7830997..7833193,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10009045	0.80[EUR][1000 genomes]
rs10018256	0.83[EUR][1000 genomes]
rs10049998	1.00[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11932843	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs13115701	0.88[ASN][1000 genomes]
rs13131154	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs13137140	0.88[ASN][1000 genomes]
rs13140004	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs13145572	0.88[ASN][1000 genomes]
rs13146302	0.88[ASN][1000 genomes]
rs13147998	0.82[ASN][1000 genomes]
rs1320073	0.88[ASN][1000 genomes]
rs13435273	0.82[ASN][1000 genomes]
rs17770147	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs17770177	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2067842	0.88[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385902	0.88[CHB][hapmap]
rs28394221	0.88[ASN][1000 genomes]
rs28539821	0.88[ASN][1000 genomes]
rs28546404	0.88[ASN][1000 genomes]
rs28605531	0.88[ASN][1000 genomes]
rs28613311	0.84[ASN][1000 genomes]
rs28631977	0.83[ASN][1000 genomes]
rs28673208	0.88[ASN][1000 genomes]
rs28688265	0.88[ASN][1000 genomes]
rs28754920	0.88[ASN][1000 genomes]
rs2891927	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs34072304	0.83[ASN][1000 genomes]
rs34075381	0.88[ASN][1000 genomes]
rs34092549	0.88[ASN][1000 genomes]
rs34119140	0.83[ASN][1000 genomes]
rs34121576	0.88[ASN][1000 genomes]
rs34132874	0.83[ASN][1000 genomes]
rs34181918	0.88[ASN][1000 genomes]
rs34189407	0.88[ASN][1000 genomes]
rs34221000	0.88[ASN][1000 genomes]
rs34383852	0.88[ASN][1000 genomes]
rs34392913	0.88[ASN][1000 genomes]
rs34570748	0.87[ASN][1000 genomes]
rs34598003	0.83[ASN][1000 genomes]
rs34652148	0.88[ASN][1000 genomes]
rs34712341	0.88[ASN][1000 genomes]
rs34868842	0.88[ASN][1000 genomes]
rs34909423	0.83[ASN][1000 genomes]
rs34982807	0.83[ASN][1000 genomes]
rs35138920	0.88[ASN][1000 genomes]
rs35152796	0.88[ASN][1000 genomes]
rs35154266	0.88[ASN][1000 genomes]
rs35238070	0.88[ASN][1000 genomes]
rs35349192	0.88[ASN][1000 genomes]
rs35502845	0.88[ASN][1000 genomes]
rs35727635	0.88[ASN][1000 genomes]
rs35735994	0.88[ASN][1000 genomes]
rs35881667	0.87[ASN][1000 genomes]
rs35905776	0.88[ASN][1000 genomes]
rs35933973	0.81[ASN][1000 genomes]
rs35967175	0.88[ASN][1000 genomes]
rs36013696	0.88[ASN][1000 genomes]
rs36046241	0.84[ASN][1000 genomes]
rs36106793	0.88[ASN][1000 genomes]
rs3934540	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4234831	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4256209	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs4296663	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs4361385	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs4411970	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs4443285	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4447865	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4487321	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4579115	0.88[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4689860	0.89[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs4689865	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4689875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696742	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs4696747	0.87[ASN][1000 genomes]
rs4696762	0.88[ASN][1000 genomes]
rs4696772	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs62289341	0.85[ASN][1000 genomes]
rs62289351	0.85[ASN][1000 genomes]
rs6446624	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446627	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446629	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824266	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6826598	0.84[ASN][1000 genomes]
rs6828574	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs6828858	0.81[EUR][1000 genomes]
rs6829505	0.88[ASN][1000 genomes]
rs6829710	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6832352	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6833054	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs6837845	0.88[ASN][1000 genomes]
rs6838055	0.88[ASN][1000 genomes]
rs6845014	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs6855982	0.88[ASN][1000 genomes]
rs6856371	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6856795	0.84[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71600561	0.84[ASN][1000 genomes]
rs71601887	0.88[ASN][1000 genomes]
rs71601888	0.88[ASN][1000 genomes]
rs71601889	0.88[ASN][1000 genomes]
rs71601890	0.88[ASN][1000 genomes]
rs71601892	0.88[ASN][1000 genomes]
rs7654361	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7660568	0.88[ASN][1000 genomes]
rs7682202	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7684718	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7691386	0.88[ASN][1000 genomes]
rs7694106	0.83[ASN][1000 genomes]
rs7697255	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7819800-7834400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
3	chr4:7824600-7834600	Genic enhancers	HUVEC	blood vessel
4	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
5	chr4:7825600-7852200	Weak transcription	Gastric	stomach
6	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
8	chr4:7826400-7833600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:7827600-7832400	Genic enhancers	Fetal Muscle Leg	muscle
11	chr4:7828000-7832400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:7828800-7833000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:7828800-7833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:7829000-7834200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:7829200-7833400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:7829400-7832400	Genic enhancers	HSMM	muscle
17	chr4:7829400-7833400	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr4:7829400-7834200	Genic enhancers	NH-A	brain
19	chr4:7829800-7832400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:7829800-7832800	Enhancers	Fetal Heart	heart
21	chr4:7830200-7832800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:7830200-7833400	Enhancers	NHLF	lung
23	chr4:7830400-7832400	Weak transcription	Lung	lung
24	chr4:7830400-7832600	Enhancers	Small Intestine	intestine
25	chr4:7830400-7832800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:7830400-7833000	Enhancers	K562	blood
27	chr4:7830400-7834200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:7830400-7844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
30	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:7830600-7832400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:7830600-7832400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:7830600-7832400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr4:7830600-7832600	Weak transcription	Fetal Kidney	kidney
35	chr4:7830600-7832800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:7830600-7832800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:7830600-7833200	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:7830600-7833200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:7830600-7833200	Weak transcription	Hela-S3	cervix
40	chr4:7830600-7833400	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:7830600-7833600	Weak transcription	Spleen	Spleen
42	chr4:7830600-7833600	Genic enhancers	Osteobl	bone
43	chr4:7830600-7834200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:7830600-7834400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:7830600-7836000	Weak transcription	Fetal Brain Male	brain
46	chr4:7830600-7842800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:7830600-7842800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:7830600-7843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:7830600-7844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:7830600-7844200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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