Variant report

Variant	rs3823515
Chromosome Location	chr7:111958339-111958340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111957865..111959684-chr7:111963076..111965574,2	K562	blood:
2	chr7:111957865..111960569-chr7:111963076..111967286,5	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10226284	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10238141	0.81[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10247876	0.87[ASN][1000 genomes]
rs10259741	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272126	0.81[CEU][hapmap]
rs10272976	0.82[ASN][1000 genomes]
rs10953708	0.80[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10953709	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953710	0.85[CEU][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953711	0.85[CEU][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11761567	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11761807	0.90[CEU][hapmap]
rs11762497	0.84[ASN][1000 genomes]
rs11763356	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763588	0.81[CEU][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11763768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11767115	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11768608	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11768719	0.82[ASN][1000 genomes]
rs11768793	0.87[ASN][1000 genomes]
rs11768891	0.87[ASN][1000 genomes]
rs11769219	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11770767	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11773393	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12666261	0.87[ASN][1000 genomes]
rs12666911	0.82[ASN][1000 genomes]
rs12668065	0.84[ASN][1000 genomes]
rs12673259	0.82[ASN][1000 genomes]
rs12673830	0.87[ASN][1000 genomes]
rs13230061	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16873374	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17159389	0.81[CEU][hapmap]
rs17159446	0.81[CEU][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1985929	0.90[ASN][1000 genomes]
rs2301725	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520471	0.82[ASN][1000 genomes]
rs2520473	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2520476	0.88[JPT][hapmap]
rs2523029	0.86[ASN][1000 genomes]
rs2523030	0.88[ASN][1000 genomes]
rs2523035	0.88[ASN][1000 genomes]
rs2523037	0.90[ASN][1000 genomes]
rs2523038	0.90[ASN][1000 genomes]
rs2523039	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2523041	0.90[ASN][1000 genomes]
rs2708588	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2708590	0.86[ASN][1000 genomes]
rs2708592	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2708594	0.83[ASN][1000 genomes]
rs2708595	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2708597	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2708598	0.82[ASN][1000 genomes]
rs2708603	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2708604	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2708605	0.90[ASN][1000 genomes]
rs28781733	0.83[ASN][1000 genomes]
rs28805003	0.83[ASN][1000 genomes]
rs28817601	0.83[ASN][1000 genomes]
rs34171150	0.83[ASN][1000 genomes]
rs3807884	0.81[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3823514	0.82[ASN][1000 genomes]
rs41281063	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4464880	0.85[CEU][hapmap]
rs4730516	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4730517	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4730520	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730529	0.81[CHB][hapmap]
rs55662318	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55915049	0.86[ASN][1000 genomes]
rs56299150	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56675883	0.86[EUR][1000 genomes]
rs56969420	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60445595	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66788052	0.81[ASN][1000 genomes]
rs6949164	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6955231	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6955623	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978927	0.81[CEU][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs735150	0.89[JPT][hapmap]
rs757196	0.81[CEU][hapmap]
rs7781245	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7792130	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795336	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9641480	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9641481	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	esv2764032	chr7:111938590-111963829	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
3	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
5	chr7:111923600-111964800	Weak transcription	Gastric	stomach
6	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
8	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
9	chr7:111926800-111964800	Weak transcription	Lung	lung
10	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
12	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
14	chr7:111929000-111958800	Weak transcription	Fetal Thymus	thymus
15	chr7:111929000-111959000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:111930200-111961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:111930600-111959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
20	chr7:111933000-111958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:111934000-111965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:111936800-111959800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:111938000-111965000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:111938400-111958400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:111939200-111961800	Weak transcription	Psoas Muscle	Psoas
26	chr7:111939200-111964600	Weak transcription	Left Ventricle	heart
27	chr7:111940000-111964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:111941000-111963200	Weak transcription	Fetal Brain Male	brain
29	chr7:111941600-111960400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:111943000-111960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:111943000-111960800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:111945200-111965000	Weak transcription	Pancreas	Pancrea
35	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
36	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
37	chr7:111947800-111960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:111949200-111959400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:111950000-111958600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:111950000-111958800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:111950000-111959200	Weak transcription	HSMM	muscle
42	chr7:111950000-111961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:111950000-111961800	Weak transcription	Ovary	ovary
44	chr7:111950000-111961800	Weak transcription	HepG2	liver
45	chr7:111950000-111962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:111950200-111958800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:111950200-111958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:111950200-111958800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:111950200-111958800	Weak transcription	Fetal Lung	lung
50	chr7:111950200-111958800	Weak transcription	Stomach Smooth Muscle	stomach

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