Variant report

Variant	rs1171504
Chromosome Location	chr10:22951412-22951413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22948750..22951545-chr10:22955363..22957165,2	MCF-7	breast:
2	chr10:22949069..22952747-chr10:22952895..22957056,4	K562	blood:
3	chr10:22947010..22949481-chr10:22949817..22951993,3	K562	blood:
4	chr10:22918935..22920512-chr10:22949554..22952009,2	K562	blood:
5	chr10:22947999..22952068-chr10:22969856..22973732,4	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10764339	1.00[CHB][hapmap]
rs10764344	1.00[CHB][hapmap]
rs10828323	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs10828324	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs10828325	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10828328	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11013052	1.00[CHB][hapmap]
rs11013066	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11013067	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11013068	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11013077	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs11013082	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11013091	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1171489	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1171490	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1171492	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1171493	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1171494	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1171497	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs1171499	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1171503	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1171506	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1171509	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs12246676	1.00[CHB][hapmap]
rs12253847	1.00[CHB][hapmap]
rs12354766	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs12356117	1.00[CHB][hapmap]
rs12357289	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs12357384	1.00[CHB][hapmap]
rs12357444	1.00[CHB][hapmap]
rs12358560	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12770214	1.00[CHB][hapmap]
rs12774725	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1343504	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs1359641	0.94[YRI][hapmap]
rs1359643	0.89[YRI][hapmap]
rs1409393	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1409394	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1409395	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1614387	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1627549	0.89[YRI][hapmap]
rs16922592	0.88[YRI][hapmap]
rs1750747	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs1750748	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1750764	0.88[YRI][hapmap]
rs1750765	0.89[YRI][hapmap]
rs1750766	0.94[YRI][hapmap]
rs1750768	0.94[YRI][hapmap]
rs1750775	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs1750777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1750778	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1778309	0.87[YRI][hapmap]
rs1778313	0.86[YRI][hapmap]
rs1778321	0.83[YRI][hapmap]
rs1778322	0.94[YRI][hapmap]
rs1778334	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1778335	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1778338	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1778339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1778340	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1778342	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1778345	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1778346	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1778347	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2031620	0.82[CHB][hapmap]
rs2154053	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2559534	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2798981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34208652	0.82[ASN][1000 genomes]
rs7071306	1.00[CHB][hapmap]
rs7912132	0.82[CHB][hapmap]
rs7921549	1.00[CHB][hapmap]
rs943196	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs943197	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22915000-22951800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:22935200-22953000	Enhancers	Brain Substantia Nigra	brain
3	chr10:22936400-22958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:22937800-22955200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:22940800-22951800	Weak transcription	Left Ventricle	heart
6	chr10:22942000-22952800	Enhancers	Brain Hippocampus Middle	brain
7	chr10:22942400-22959800	Weak transcription	Right Ventricle	heart
8	chr10:22943400-22952200	Enhancers	Brain Angular Gyrus	brain
9	chr10:22944800-22951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:22944800-22951800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:22945000-22951800	Weak transcription	Esophagus	oesophagus
12	chr10:22945000-22955200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:22945000-22955200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:22945000-22955200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr10:22945000-22955200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr10:22945000-22955400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:22945000-22956800	Weak transcription	Gastric	stomach
18	chr10:22945000-22958000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr10:22945200-22955000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:22945200-22955200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:22945400-22951600	Weak transcription	Fetal Stomach	stomach
22	chr10:22945400-22951800	Weak transcription	Small Intestine	intestine
23	chr10:22945400-22955400	Weak transcription	Fetal Kidney	kidney
24	chr10:22945400-22958400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:22946200-22951600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:22946200-22961600	Weak transcription	Aorta	Aorta
27	chr10:22946600-22955000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:22946800-22951800	Weak transcription	HSMMtube	muscle
29	chr10:22947200-22953200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr10:22947200-22954200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:22947200-22955000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr10:22947400-22951600	Enhancers	Primary T cells from cord blood	blood
33	chr10:22947400-22955400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:22947800-22955000	Weak transcription	Primary B cells from cord blood	blood
35	chr10:22948000-22953400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr10:22948000-22961400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr10:22948200-22951800	Weak transcription	NHLF	lung
38	chr10:22948200-22952000	Weak transcription	NHDF-Ad	bronchial
39	chr10:22948200-22953600	Weak transcription	Dnd41	blood
40	chr10:22948200-22955600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:22948200-22958400	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:22948400-22952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:22948600-22951600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:22948600-22951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr10:22948600-22953600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:22948600-22955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:22948800-22952400	Enhancers	Brain Cingulate Gyrus	brain
48	chr10:22949000-22951800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:22949000-22959800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:22949000-22965000	Weak transcription	Right Atrium	heart

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