Variant report

Variant	rs6738196
Chromosome Location	chr2:173444462-173444463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10048692	0.82[EUR][1000 genomes]
rs10048707	0.82[EUR][1000 genomes]
rs10048825	0.82[EUR][1000 genomes]
rs10178654	0.83[CEU][hapmap]
rs10180021	0.80[CEU][hapmap]
rs10181851	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10186869	0.84[EUR][1000 genomes]
rs10199472	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs10201129	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs10202550	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs10208151	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs10210546	0.83[CEU][hapmap]
rs10427189	0.81[EUR][1000 genomes]
rs10427315	0.81[EUR][1000 genomes]
rs1075638	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10930561	0.93[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs10930562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10930563	0.85[ASN][1000 genomes]
rs10930565	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1097478	0.81[ASN][1000 genomes]
rs1133602	0.91[ASN][1000 genomes]
rs11887454	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11890159	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11891127	0.83[AFR][1000 genomes]
rs11896032	0.81[EUR][1000 genomes]
rs11896178	0.81[EUR][1000 genomes]
rs11897165	0.84[EUR][1000 genomes]
rs11897495	0.83[EUR][1000 genomes]
rs11898890	0.81[EUR][1000 genomes]
rs11901110	0.84[EUR][1000 genomes]
rs11901586	0.81[EUR][1000 genomes]
rs11902810	0.83[EUR][1000 genomes]
rs11904158	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904366	0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs12465704	0.87[EUR][1000 genomes]
rs12476204	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12613307	0.80[CHB][hapmap]
rs12693005	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs12693007	0.82[EUR][1000 genomes]
rs12693008	0.87[ASN][1000 genomes]
rs12990751	0.83[EUR][1000 genomes]
rs13007707	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs13008835	0.84[EUR][1000 genomes]
rs13009291	0.82[EUR][1000 genomes]
rs13010205	0.81[EUR][1000 genomes]
rs13015260	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13019331	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13024563	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13032610	0.82[EUR][1000 genomes]
rs13385403	0.83[CEU][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13392808	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs13394924	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs13401676	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13401980	0.84[EUR][1000 genomes]
rs13415174	0.81[EUR][1000 genomes]
rs13417334	0.83[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1530864	0.93[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1530865	0.93[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1531150	0.83[ASN][1000 genomes]
rs16860693	0.93[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs16860696	0.83[CEU][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs16860697	0.83[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860737	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16860741	0.91[ASN][1000 genomes]
rs17299956	0.83[CEU][hapmap]
rs17702263	0.83[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1868901	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1869922	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs1869923	0.88[ASN][1000 genomes]
rs1982410	0.81[EUR][1000 genomes]
rs2290563	0.92[CEU][hapmap]
rs2290564	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2599260	0.88[ASN][1000 genomes]
rs2599261	0.88[ASN][1000 genomes]
rs2599262	0.88[ASN][1000 genomes]
rs2599263	0.88[ASN][1000 genomes]
rs2599264	0.88[ASN][1000 genomes]
rs2599265	0.88[ASN][1000 genomes]
rs2599266	0.88[ASN][1000 genomes]
rs2606062	0.88[ASN][1000 genomes]
rs2606063	0.88[ASN][1000 genomes]
rs2606064	0.87[ASN][1000 genomes]
rs2606065	0.88[ASN][1000 genomes]
rs2606066	0.88[ASN][1000 genomes]
rs2606067	0.88[ASN][1000 genomes]
rs2606070	0.88[ASN][1000 genomes]
rs34051646	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34139806	0.82[EUR][1000 genomes]
rs34707897	0.84[EUR][1000 genomes]
rs34888332	0.84[EUR][1000 genomes]
rs35809888	0.84[EUR][1000 genomes]
rs35880823	0.84[EUR][1000 genomes]
rs35892983	0.89[ASN][1000 genomes]
rs36118221	0.84[EUR][1000 genomes]
rs3765065	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769321	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61505737	0.85[ASN][1000 genomes]
rs62167835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169270	0.84[EUR][1000 genomes]
rs66460331	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6710129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723872	0.83[CEU][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6731354	0.80[ASN][1000 genomes]
rs6733679	0.88[ASN][1000 genomes]
rs6752257	0.83[CEU][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes]
rs6752386	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs70937083	0.85[ASN][1000 genomes]
rs70937084	0.85[ASN][1000 genomes]
rs7584769	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8179584	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs836590	0.88[ASN][1000 genomes]
rs836608	0.83[ASN][1000 genomes]
rs836614	0.83[ASN][1000 genomes]
rs836616	0.83[ASN][1000 genomes]
rs836617	0.83[ASN][1000 genomes]
rs836629	0.88[ASN][1000 genomes]
rs836630	0.88[ASN][1000 genomes]
rs836631	0.88[ASN][1000 genomes]
rs836634	0.88[ASN][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
2	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
3	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:173423400-173451000	Weak transcription	Colonic Mucosa	Colon
5	chr2:173424600-173447800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
7	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
8	chr2:173431400-173480600	Weak transcription	Gastric	stomach
9	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:173436000-173445600	ZNF genes & repeats	GM12878-XiMat	blood
11	chr2:173437000-173451000	Weak transcription	Thymus	Thymus
12	chr2:173437000-173451800	Weak transcription	Spleen	Spleen
13	chr2:173437400-173449600	Weak transcription	Left Ventricle	heart
14	chr2:173437400-173452000	Weak transcription	Lung	lung
15	chr2:173437600-173449800	Weak transcription	Fetal Stomach	stomach
16	chr2:173437800-173447000	Weak transcription	Placenta	Placenta
17	chr2:173438000-173445800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173438600-173445600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr2:173439200-173445600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:173439800-173458000	Weak transcription	NHDF-Ad	bronchial
21	chr2:173440200-173458200	Weak transcription	Osteobl	bone
22	chr2:173440200-173467600	Weak transcription	NH-A	brain
23	chr2:173441400-173445600	ZNF genes & repeats	K562	blood
24	chr2:173441400-173447800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:173442800-173445000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:173442800-173445200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:173442800-173448400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:173442800-173451000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:173443000-173445000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:173443000-173445000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:173443000-173445000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:173443000-173446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:173443000-173451000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:173443000-173451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:173443200-173444800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:173443200-173446200	Weak transcription	Liver	Liver
37	chr2:173443200-173447000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:173443200-173449800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:173443200-173451000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:173443200-173451000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:173443200-173454400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:173443200-173455200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:173443400-173447000	Weak transcription	Hela-S3	cervix
45	chr2:173443600-173444600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:173443600-173444600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:173443800-173444800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:173443800-173445000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:173443800-173445000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:173443800-173445200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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