Variant report

Variant	rs2817985
Chromosome Location	chr1:213411703-213411704
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	chr1:213410280..213412046-chr1:213412206..213414016,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11120089	0.89[EUR][1000 genomes]
rs11120094	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1187777	0.93[EUR][1000 genomes]
rs1187788	0.96[EUR][1000 genomes]
rs1187802	0.93[EUR][1000 genomes]
rs1187806	0.96[EUR][1000 genomes]
rs12065249	0.89[EUR][1000 genomes]
rs12082134	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1628854	0.93[EUR][1000 genomes]
rs17742003	0.89[EUR][1000 genomes]
rs2654910	0.96[EUR][1000 genomes]
rs2841422	0.93[EUR][1000 genomes]
rs2841433	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307658	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4655415	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57140665	0.89[EUR][1000 genomes]
rs57376645	0.89[EUR][1000 genomes]
rs57670103	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57845296	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58865439	0.89[EUR][1000 genomes]
rs60194877	0.89[EUR][1000 genomes]
rs60727621	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61832461	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832463	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832465	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832467	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832468	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832470	0.90[ASN][1000 genomes]
rs61832474	0.90[ASN][1000 genomes]
rs61832475	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832476	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832498	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832499	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832501	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832502	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61832503	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832508	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832509	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832510	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832511	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832513	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832528	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61832529	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61834076	0.89[EUR][1000 genomes]
rs61834080	0.89[EUR][1000 genomes]
rs61834082	0.85[EUR][1000 genomes]
rs61834083	0.89[EUR][1000 genomes]
rs61834084	0.89[EUR][1000 genomes]
rs61834086	0.89[EUR][1000 genomes]
rs61834087	0.82[EUR][1000 genomes]
rs61834088	0.89[EUR][1000 genomes]
rs61834089	0.89[EUR][1000 genomes]
rs61834091	0.89[EUR][1000 genomes]
rs61834093	0.89[EUR][1000 genomes]
rs61834094	0.89[EUR][1000 genomes]
rs61834096	0.89[EUR][1000 genomes]
rs61834099	0.89[EUR][1000 genomes]
rs61834102	0.81[EUR][1000 genomes]
rs61834103	0.89[EUR][1000 genomes]
rs61834104	0.89[EUR][1000 genomes]
rs61834105	0.89[EUR][1000 genomes]
rs61834109	0.89[EUR][1000 genomes]
rs61834110	0.89[EUR][1000 genomes]
rs61834116	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61834117	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61834118	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61834119	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61834123	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61834126	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61834135	0.90[ASN][1000 genomes]
rs61834136	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61834137	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61834138	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61834139	0.90[ASN][1000 genomes]
rs61834141	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61834142	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9429904	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv508693	chr1:213406220-213421626	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
3	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:213376800-213414200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
12	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:213387400-213414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:213388000-213414400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:213388000-213424600	Weak transcription	Gastric	stomach
16	chr1:213388200-213414000	Weak transcription	Aorta	Aorta
17	chr1:213388200-213414000	Weak transcription	Liver	Liver
18	chr1:213388200-213414200	Weak transcription	Ovary	ovary
19	chr1:213388200-213417200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:213388200-213426200	Weak transcription	Lung	lung
21	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
22	chr1:213388400-213414000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:213388400-213414200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:213388400-213414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:213388600-213418200	Weak transcription	Fetal Intestine Small	intestine
27	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:213394400-213420200	Weak transcription	GM12878-XiMat	blood
29	chr1:213398600-213427200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:213399600-213418000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
32	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
33	chr1:213403000-213414400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:213403200-213418000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:213403400-213414000	Weak transcription	Dnd41	blood
36	chr1:213403400-213414800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:213403800-213412200	Weak transcription	Esophagus	oesophagus
38	chr1:213404000-213414000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:213404200-213416400	Weak transcription	Fetal Thymus	thymus
40	chr1:213404400-213412200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:213404800-213414200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:213405400-213423000	Weak transcription	A549	lung
43	chr1:213405600-213413400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:213405600-213414000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:213405600-213414000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:213405600-213414200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:213405600-213414200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:213405600-213414200	Weak transcription	NH-A	brain
49	chr1:213405600-213416000	Weak transcription	Hela-S3	cervix
50	chr1:213405600-213418200	Weak transcription	H9 Cell Line	embryonic stem cell

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