Variant report

Variant	rs56231942
Chromosome Location	chr6:2140760-2140761
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	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
2	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11968026	0.96[EUR][1000 genomes]
rs13437488	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163068	0.92[ASN][1000 genomes]
rs163069	0.98[ASN][1000 genomes]
rs163070	0.98[ASN][1000 genomes]
rs163071	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs163072	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs170930	0.98[ASN][1000 genomes]
rs17134693	0.96[EUR][1000 genomes]
rs180189	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184621	0.98[ASN][1000 genomes]
rs186828	0.98[ASN][1000 genomes]
rs1883871	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883872	1.00[ASN][1000 genomes]
rs234917	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234918	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234919	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234924	1.00[ASN][1000 genomes]
rs234925	1.00[ASN][1000 genomes]
rs234926	1.00[ASN][1000 genomes]
rs234927	1.00[ASN][1000 genomes]
rs234928	1.00[ASN][1000 genomes]
rs234929	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234930	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234931	0.95[ASN][1000 genomes]
rs234938	0.98[ASN][1000 genomes]
rs234939	0.98[ASN][1000 genomes]
rs234940	0.98[ASN][1000 genomes]
rs234941	1.00[ASN][1000 genomes]
rs234942	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234943	1.00[ASN][1000 genomes]
rs234945	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234947	1.00[ASN][1000 genomes]
rs234948	1.00[ASN][1000 genomes]
rs234949	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234950	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs372304	1.00[ASN][1000 genomes]
rs3778558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778559	1.00[ASN][1000 genomes]
rs3800158	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3800163	1.00[ASN][1000 genomes]
rs3800164	1.00[ASN][1000 genomes]
rs3800165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800167	1.00[ASN][1000 genomes]
rs3800168	1.00[ASN][1000 genomes]
rs3800169	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800170	1.00[ASN][1000 genomes]
rs398992	1.00[ASN][1000 genomes]
rs4140449	1.00[ASN][1000 genomes]
rs431112	0.98[ASN][1000 genomes]
rs452490	1.00[ASN][1000 genomes]
rs4959166	1.00[ASN][1000 genomes]
rs4959167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959635	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959637	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959641	1.00[ASN][1000 genomes]
rs4959642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959644	1.00[ASN][1000 genomes]
rs59665671	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911073	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934917	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72830156	0.96[EUR][1000 genomes]
rs7740222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328084	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392369	0.96[EUR][1000 genomes]
rs9503106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9503109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	nsv524730	chr6:2122454-2145136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv527808	chr6:2122454-2145447	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2128000-2160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:2134400-2141000	Weak transcription	Pancreas	Pancrea
3	chr6:2134400-2144400	Weak transcription	Esophagus	oesophagus
4	chr6:2134400-2157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:2134800-2142000	Weak transcription	HMEC	breast
6	chr6:2134800-2144400	Weak transcription	Gastric	stomach
7	chr6:2137200-2142600	Weak transcription	Small Intestine	intestine
8	chr6:2137600-2146600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:2139600-2141000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:2139600-2141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:2140000-2141200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:2140000-2142000	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:2140000-2142600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:2140000-2142800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:2140000-2143600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:2140200-2142200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:2140200-2142400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:2140200-2142800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:2140200-2143000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:2140400-2142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:2140400-2142200	Enhancers	GM12878-XiMat	blood
22	chr6:2140400-2142600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:2140600-2141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:2140600-2141400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:2140600-2141400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:2140600-2142400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:2140600-2142400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:2140600-2143600	Enhancers	HepG2	liver

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