Variant report

Variant	rs17159446
Chromosome Location	chr7:111945832-111945833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111935052..111937949-chr7:111944380..111946424,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10226284	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10238141	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10247876	0.88[EUR][1000 genomes]
rs10259741	0.82[EUR][1000 genomes]
rs10266365	0.81[CEU][hapmap]
rs10272126	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10272188	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953708	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10953709	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760599	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11761567	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761807	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11762497	0.87[EUR][1000 genomes]
rs11763356	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11763588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763768	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11767115	0.82[EUR][1000 genomes]
rs11768608	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11768793	0.88[EUR][1000 genomes]
rs11768891	0.88[EUR][1000 genomes]
rs11769219	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773393	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12666261	0.88[EUR][1000 genomes]
rs12666328	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12668065	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12673259	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs12673830	0.88[EUR][1000 genomes]
rs13230061	0.89[CEU][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16873374	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17159389	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2301725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520473	0.89[CEU][hapmap]
rs2708592	0.86[CEU][hapmap];0.87[YRI][hapmap]
rs2708597	0.89[CEU][hapmap];0.88[YRI][hapmap]
rs2708603	0.86[CEU][hapmap]
rs3807884	1.00[CEU][hapmap]
rs3823515	0.81[CEU][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41281063	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4464880	1.00[CEU][hapmap]
rs4730516	0.82[EUR][1000 genomes]
rs4730517	0.82[EUR][1000 genomes]
rs4730520	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55662318	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55915049	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56299150	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56675883	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56969420	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60445595	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949164	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6955231	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6955623	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757196	1.00[CEU][hapmap]
rs7781245	0.82[EUR][1000 genomes]
rs7792130	0.82[EUR][1000 genomes]
rs7795336	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9641480	1.00[JPT][hapmap];0.88[EUR][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	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
5	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:111922400-111949800	Weak transcription	Ovary	ovary
8	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
9	chr7:111923600-111964800	Weak transcription	Gastric	stomach
10	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
11	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
13	chr7:111926800-111949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:111926800-111949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:111926800-111949800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
17	chr7:111926800-111964800	Weak transcription	Lung	lung
18	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
19	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
20	chr7:111928600-111947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:111928800-111946600	Weak transcription	Brain Substantia Nigra	brain
23	chr7:111928800-111949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:111928800-111949800	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:111928800-111950000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
27	chr7:111929000-111947000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:111929000-111948800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:111929000-111949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:111929000-111949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:111929000-111949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:111929000-111958800	Weak transcription	Fetal Thymus	thymus
33	chr7:111929000-111959000	Weak transcription	Fetal Intestine Large	intestine
34	chr7:111929200-111949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:111929600-111949000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:111930000-111949800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:111930200-111961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:111930600-111959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:111930800-111947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:111930800-111949200	Weak transcription	NHEK	skin
41	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:111931000-111949200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:111931000-111949200	Weak transcription	HMEC	breast
44	chr7:111931000-111949200	Weak transcription	HSMM	muscle
45	chr7:111931000-111949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:111931000-111949800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
48	chr7:111931400-111947400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:111932400-111948600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:111933000-111958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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