Variant report

Variant	rs1982291
Chromosome Location	chr6:161462816-161462817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161462428..161466451-chr6:161468081..161472167,5	K562	blood:
2	chr6:161450658..161452165-chr6:161462222..161464555,2	K562	blood:
3	chr6:161462648..161465458-chr6:161468679..161470862,2	K562	blood:
4	chr6:161452727..161456793-chr6:161458799..161464157,7	K562	blood:
5	chr6:161462456..161464087-chr6:161485751..161487381,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1001809	1.00[ASN][1000 genomes]
rs10499316	1.00[CHD][hapmap]
rs11754459	1.00[JPT][hapmap]
rs11963931	1.00[JPT][hapmap]
rs13194157	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13194692	1.00[CHD][hapmap]
rs1464779	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1543261	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1562026	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892303	1.00[CHD][hapmap]
rs17626731	1.00[CHD][hapmap]
rs2275925	1.00[JPT][hapmap]
rs2275926	1.00[JPT][hapmap]
rs2872613	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4472323	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709486	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709489	1.00[ASN][1000 genomes]
rs4709490	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709491	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709493	1.00[ASN][1000 genomes]
rs4709495	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709496	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs587501	1.00[ASN][1000 genomes]
rs615269	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs619393	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs628430	1.00[ASN][1000 genomes]
rs628923	1.00[ASN][1000 genomes]
rs6455701	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
rs657551	1.00[ASN][1000 genomes]
rs668638	1.00[ASN][1000 genomes]
rs682110	1.00[ASN][1000 genomes]
rs683549	1.00[ASN][1000 genomes]
rs6900500	1.00[JPT][hapmap]
rs6902332	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902760	1.00[ASN][1000 genomes]
rs6905942	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6913706	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6914092	1.00[JPT][hapmap]
rs6918476	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919831	1.00[ASN][1000 genomes]
rs6923835	1.00[JPT][hapmap]
rs6925502	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6925800	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929462	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6933810	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs705829	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs705830	1.00[ASN][1000 genomes]
rs7738762	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7753585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7760056	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7761753	1.00[CHD][hapmap]
rs7770491	1.00[CHD][hapmap]
rs7771961	1.00[CHD][hapmap]
rs9355330	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355332	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355867	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355872	1.00[ASN][1000 genomes]
rs9355873	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9364585	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364586	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9365245	0.83[CEU][hapmap];0.82[MEX][hapmap]
rs9365248	1.00[JPT][hapmap]
rs9458126	1.00[ASN][1000 genomes]
rs9458136	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:161435000-161490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:161442800-161463400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:161443800-161465600	Weak transcription	Right Atrium	heart
6	chr6:161443800-161478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:161448800-161472400	Weak transcription	A549	lung
8	chr6:161449000-161494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:161452800-161489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:161453600-161470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
12	chr6:161454800-161466000	Strong transcription	Dnd41	blood
13	chr6:161455000-161463800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:161455000-161466000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:161455200-161464400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:161455200-161467200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:161455200-161495800	Weak transcription	Fetal Brain Male	brain
18	chr6:161455400-161466200	Strong transcription	Primary T cells from cord blood	blood
19	chr6:161455600-161464000	Strong transcription	Fetal Thymus	thymus
20	chr6:161455600-161466400	Strong transcription	K562	blood
21	chr6:161456200-161466000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:161456600-161465800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:161456600-161469800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:161456800-161477000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:161456800-161485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:161457000-161463600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr6:161457000-161464800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr6:161457400-161463800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr6:161457800-161464800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:161458000-161466000	Strong transcription	HepG2	liver
32	chr6:161458200-161463000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:161458200-161464200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:161458200-161465800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:161458200-161471800	Weak transcription	Colonic Mucosa	Colon
36	chr6:161459200-161463600	Strong transcription	Placenta	Placenta
37	chr6:161459400-161472000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:161459400-161488800	Weak transcription	Brain Angular Gyrus	brain
39	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
40	chr6:161459800-161470400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:161459800-161496600	Weak transcription	Fetal Kidney	kidney
42	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
43	chr6:161460000-161464200	Weak transcription	Brain Substantia Nigra	brain
44	chr6:161460000-161465800	Weak transcription	Brain Anterior Caudate	brain
45	chr6:161460000-161469800	Weak transcription	Fetal Lung	lung
46	chr6:161460000-161499200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:161460200-161463800	Weak transcription	Left Ventricle	heart
48	chr6:161460200-161464400	Weak transcription	Psoas Muscle	Psoas
49	chr6:161460200-161470000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:161460200-161470200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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