Variant report

Variant	rs6674244
Chromosome Location	chr1:180420769-180420770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10158367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10465516	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10494527	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737342	0.82[ASN][1000 genomes]
rs10753208	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10753209	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753216	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10798745	0.86[ASN][1000 genomes]
rs10798746	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798752	0.82[ASN][1000 genomes]
rs10798753	0.82[ASN][1000 genomes]
rs10798754	0.82[ASN][1000 genomes]
rs10798756	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798757	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798759	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798760	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798761	0.82[ASN][1000 genomes]
rs10798762	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798767	0.83[ASN][1000 genomes]
rs10798769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798770	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798771	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913968	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10913973	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913974	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913976	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913978	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913980	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913981	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913982	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913983	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913984	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913985	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913986	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913987	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913998	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10914001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914002	0.83[ASN][1000 genomes]
rs10914005	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10914014	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10914016	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914017	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914018	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10914023	0.81[EUR][1000 genomes]
rs11580793	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11799870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12024201	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12034217	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12121043	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122338	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12127886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128560	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129511	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129784	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12131071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12135463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136111	0.81[EUR][1000 genomes]
rs12141348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12141848	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12142124	0.83[ASN][1000 genomes]
rs12143350	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12561776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565492	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12691484	0.82[ASN][1000 genomes]
rs12730889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733492	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12749611	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1416821	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1418102	0.82[ASN][1000 genomes]
rs1538620	0.92[ASN][1000 genomes]
rs1970400	0.86[ASN][1000 genomes]
rs2105232	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147774	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296378	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2877399	0.82[ASN][1000 genomes]
rs3806300	0.80[ASN][1000 genomes]
rs3806301	0.90[ASN][1000 genomes]
rs3923222	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4076403	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4142992	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4418555	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4420052	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4421553	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4424469	0.82[ASN][1000 genomes]
rs4436345	0.82[ASN][1000 genomes]
rs4442335	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4483365	0.82[ASN][1000 genomes]
rs4562579	0.83[ASN][1000 genomes]
rs4578179	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4593778	0.83[ASN][1000 genomes]
rs4607831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634864	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4642852	0.82[ASN][1000 genomes]
rs4651064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652493	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4652495	0.80[ASN][1000 genomes]
rs4652496	0.82[ASN][1000 genomes]
rs4652498	0.82[ASN][1000 genomes]
rs4652499	0.82[ASN][1000 genomes]
rs4652504	0.93[ASN][1000 genomes]
rs4652505	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55874160	0.82[ASN][1000 genomes]
rs6425625	0.82[ASN][1000 genomes]
rs6425641	0.87[ASN][1000 genomes]
rs6657492	0.81[ASN][1000 genomes]
rs6659513	0.82[ASN][1000 genomes]
rs6661208	0.82[ASN][1000 genomes]
rs6665719	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6670544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678216	0.82[ASN][1000 genomes]
rs6680368	0.83[ASN][1000 genomes]
rs6687442	0.89[ASN][1000 genomes]
rs6687549	0.88[ASN][1000 genomes]
rs6688844	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6697924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6699585	0.88[ASN][1000 genomes]
rs6700986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704334	0.88[ASN][1000 genomes]
rs6704437	0.88[ASN][1000 genomes]
rs716760	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7523003	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7523857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532806	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7538219	0.82[ASN][1000 genomes]
rs7538303	0.82[ASN][1000 genomes]
rs7539910	0.81[ASN][1000 genomes]
rs7540276	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7543366	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7544585	0.82[ASN][1000 genomes]
rs822706	0.80[ASN][1000 genomes]
rs9726041	0.89[ASN][1000 genomes]
rs9730180	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180379000-180430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:180392600-180446200	Weak transcription	K562	blood
3	chr1:180399000-180420800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:180401400-180430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:180401800-180420800	Weak transcription	NHDF-Ad	bronchial
6	chr1:180403400-180426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:180403400-180431200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:180403400-180448000	Weak transcription	HMEC	breast
9	chr1:180404000-180421800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:180404200-180431800	Weak transcription	NHEK	skin
11	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
12	chr1:180409200-180421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:180410000-180421200	Weak transcription	Ovary	ovary
14	chr1:180411600-180420800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:180413000-180429400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:180417600-180431200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:180418000-180431200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:180418400-180422000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:180418400-180430800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:180418800-180422600	Weak transcription	Liver	Liver
21	chr1:180419000-180426200	Weak transcription	Dnd41	blood
22	chr1:180419400-180421600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr1:180419800-180422600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:180420000-180422200	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr1:180420000-180422400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:180420200-180420800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:180420200-180421000	Strong transcription	Primary B cells from cord blood	blood
28	chr1:180420200-180421000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:180420200-180421000	ZNF genes & repeats	HSMM	muscle
30	chr1:180420200-180421200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:180420200-180421200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:180420200-180421200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr1:180420200-180421400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:180420200-180421600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr1:180420400-180421200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr1:180420400-180421200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr1:180420400-180421400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr1:180420400-180421400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:180420600-180421000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:180420600-180421000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:180420600-180421000	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr1:180420600-180421000	ZNF genes & repeats	Fetal Brain Male	brain
43	chr1:180420600-180421000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr1:180420600-180421200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:180420600-180421200	ZNF genes & repeats	A549	lung
46	chr1:180420600-180421600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:180420600-180421600	ZNF genes & repeats	Fetal Brain Female	brain
48	chr1:180420600-180429600	Weak transcription	Fetal Lung	lung

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