Variant report

Variant	rs2794974
Chromosome Location	chr1:180282785-180282786
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180282396..180285263-chr1:180286610..180289020,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10157891	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1072856	0.94[AFR][1000 genomes]
rs10733004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10733005	0.82[EUR][1000 genomes]
rs10737343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737345	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753210	1.00[ASN][1000 genomes]
rs10753213	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753214	1.00[ASN][1000 genomes]
rs10798744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798749	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798764	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914011	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094598	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094599	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144149	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339722	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339723	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361363	1.00[ASN][1000 genomes]
rs1361628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556935	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556938	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591898	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16855769	0.88[YRI][hapmap]
rs16855990	0.88[YRI][hapmap]
rs1935283	1.00[ASN][1000 genomes]
rs1961741	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153753	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2262371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2764432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764442	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764444	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764449	1.00[JPT][hapmap]
rs2764451	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2764452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2764453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2764454	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2764456	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764457	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764458	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764462	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764467	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794965	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2794966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794969	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794971	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794972	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794975	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304539	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4333819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532796	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4540612	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4609392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4651061	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4652502	0.92[EUR][1000 genomes]
rs60993519	0.80[AFR][1000 genomes]
rs61811560	1.00[ASN][1000 genomes]
rs6425620	1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425621	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425623	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425624	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425642	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669304	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677367	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6683484	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684842	1.00[ASN][1000 genomes]
rs6687873	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691333	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704334	1.00[JPT][hapmap]
rs7515052	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522928	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526743	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs7532972	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543143	1.00[ASN][1000 genomes]
rs7546030	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548884	1.00[ASN][1000 genomes]
rs7555087	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822703	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs863720	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863721	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880911	0.94[EUR][1000 genomes]
rs912766	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9425879	1.00[ASN][1000 genomes]
rs946633	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946634	0.88[EUR][1000 genomes];1.00[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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1001477	chr1:180172903-180298287	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv535220	chr1:180172903-180298287	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180247800-180284200	Weak transcription	Fetal Thymus	thymus
2	chr1:180257600-180289600	Weak transcription	Hela-S3	cervix
3	chr1:180257800-180287200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:180257800-180296200	Weak transcription	Left Ventricle	heart
5	chr1:180258400-180285200	Weak transcription	Ovary	ovary
6	chr1:180261200-180284200	Weak transcription	K562	blood
7	chr1:180267000-180284400	Weak transcription	GM12878-XiMat	blood
8	chr1:180268200-180282800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:180271600-180284600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:180276200-180283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180276400-180284600	Weak transcription	Fetal Lung	lung
12	chr1:180277800-180283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:180277800-180284200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:180277800-180284800	Weak transcription	Psoas Muscle	Psoas
15	chr1:180278000-180284200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:180278000-180285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:180278000-180298200	Weak transcription	Esophagus	oesophagus
18	chr1:180278800-180282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:180278800-180284400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:180278800-180285400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:180278800-180286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:180278800-180296000	Weak transcription	Pancreas	Pancrea
23	chr1:180279000-180285400	Weak transcription	NHEK	skin
24	chr1:180279000-180297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:180279200-180288000	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:180279400-180284600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:180279400-180288000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:180279400-180295400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:180279600-180298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:180280000-180282800	Strong transcription	Primary B cells from cord blood	blood
31	chr1:180280000-180284000	Weak transcription	Small Intestine	intestine
32	chr1:180280200-180283000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:180280400-180282800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:180280400-180283000	Strong transcription	HMEC	breast
35	chr1:180280600-180284600	Weak transcription	HSMMtube	muscle
36	chr1:180280800-180284000	Weak transcription	Gastric	stomach
37	chr1:180280800-180284200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:180280800-180284200	Weak transcription	Dnd41	blood
39	chr1:180280800-180284600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:180280800-180284600	Weak transcription	HepG2	liver
41	chr1:180281000-180282800	Enhancers	A549	lung
42	chr1:180281000-180283000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:180281000-180283200	Weak transcription	Thymus	Thymus
44	chr1:180281000-180284000	Weak transcription	Placenta	Placenta
45	chr1:180281000-180284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:180281000-180284400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:180281000-180284600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:180281000-180284600	Weak transcription	Aorta	Aorta
49	chr1:180281000-180285800	Weak transcription	Primary T cells from cord blood	blood
50	chr1:180281000-180286800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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