Variant report

Variant	rs72830156
Chromosome Location	chr6:2115699-2115700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11968026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437488	0.89[EUR][1000 genomes]
rs163068	0.86[AMR][1000 genomes]
rs163069	0.86[AMR][1000 genomes]
rs163070	0.86[AMR][1000 genomes]
rs163071	0.89[EUR][1000 genomes]
rs163072	0.89[EUR][1000 genomes]
rs170930	0.86[AMR][1000 genomes]
rs17134693	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs180189	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs184621	0.86[AMR][1000 genomes]
rs186828	0.86[AMR][1000 genomes]
rs1883871	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1883872	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs234917	0.89[EUR][1000 genomes]
rs234918	0.82[EUR][1000 genomes]
rs234919	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs234924	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs234925	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs234926	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs234927	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs234928	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs234929	0.89[EUR][1000 genomes]
rs234930	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs234931	0.86[AMR][1000 genomes]
rs234938	0.81[AMR][1000 genomes]
rs234939	0.86[AMR][1000 genomes]
rs234940	0.86[AMR][1000 genomes]
rs234941	0.86[AMR][1000 genomes]
rs234942	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs234943	0.86[AMR][1000 genomes]
rs234945	0.89[EUR][1000 genomes]
rs234947	0.86[AMR][1000 genomes]
rs234948	0.86[AMR][1000 genomes]
rs234949	0.89[EUR][1000 genomes]
rs234950	0.89[EUR][1000 genomes]
rs372304	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3778558	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3778559	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3800163	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3800164	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3800165	0.96[EUR][1000 genomes]
rs3800167	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3800168	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3800169	0.93[EUR][1000 genomes]
rs3800170	1.00[AMR][1000 genomes]
rs398992	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4140449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs431112	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs452490	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4959166	0.96[AMR][1000 genomes]
rs4959167	0.96[EUR][1000 genomes]
rs4959635	0.96[EUR][1000 genomes]
rs4959637	0.96[EUR][1000 genomes]
rs4959639	0.96[EUR][1000 genomes]
rs4959641	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4959642	0.96[EUR][1000 genomes]
rs4959643	0.96[EUR][1000 genomes]
rs4959644	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56231942	0.96[EUR][1000 genomes]
rs59665671	0.96[EUR][1000 genomes]
rs6911073	0.96[EUR][1000 genomes]
rs7740222	0.96[EUR][1000 genomes]
rs9328084	0.85[EUR][1000 genomes]
rs9392369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9503106	0.96[EUR][1000 genomes]
rs9503109	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1019227	chr6:2038843-2142395	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv538097	chr6:2038843-2142395	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv883387	chr6:2086679-2176239	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
14	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	87 gene(s)	inside rSNPs	diseases
15	nsv519587	chr6:2097654-2145447	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv969343	chr6:2108400-2134218	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2065000-2117400	Weak transcription	Pancreas	Pancrea
2	chr6:2081600-2131800	Weak transcription	Fetal Intestine Small	intestine
3	chr6:2104400-2132000	Weak transcription	Fetal Intestine Large	intestine
4	chr6:2104600-2116600	Weak transcription	Dnd41	blood
5	chr6:2104600-2128200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:2105200-2123400	Weak transcription	Gastric	stomach
7	chr6:2107400-2116800	Weak transcription	Colonic Mucosa	Colon
8	chr6:2108000-2126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:2108800-2118600	Strong transcription	HepG2	liver
10	chr6:2109600-2127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:2109600-2133600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:2110000-2117400	Weak transcription	Primary T cells from cord blood	blood
13	chr6:2110200-2129000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:2111400-2118200	Weak transcription	Aorta	Aorta
15	chr6:2111800-2118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:2111800-2127800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:2111800-2129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:2112000-2124000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:2112000-2124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:2112200-2116800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:2112200-2120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:2112400-2116800	Weak transcription	NHLF	lung
23	chr6:2112400-2116800	Weak transcription	Osteobl	bone
24	chr6:2112400-2117000	Weak transcription	Spleen	Spleen
25	chr6:2112400-2118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:2112400-2127200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:2112400-2129400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:2114200-2117400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:2114200-2134200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:2115600-2123600	Weak transcription	HUVEC	blood vessel

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