Variant report

Variant	rs2314190
Chromosome Location	chr6:161559807-161559808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161559206..161562379-chr6:161569331..161573848,4	K562	blood:
2	chr6:161559206..161561211-chr6:161569331..161570854,2	K562	blood:
3	chr6:161411262..161413892-chr6:161559179..161560764,2	K562	blood:
4	chr6:161552329..161556769-chr6:161557901..161562142,6	K562	blood:
5	chr6:161412392..161413995-chr6:161559264..161562128,3	K562	blood:
6	chr6:161559424..161561284-chr6:161580319..161582815,2	K562	blood:

Variant related genes	Relation type
ENSG00000272841	Chromatin interaction
ENSG00000026652	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1001421	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1001422	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs1001756	1.00[CHB][hapmap]
rs10945718	1.00[JPT][hapmap]
rs11751634	1.00[CHB][hapmap]
rs11751843	1.00[CHB][hapmap]
rs11752188	1.00[CHB][hapmap]
rs11757223	1.00[CHB][hapmap]
rs11757309	1.00[CHB][hapmap]
rs11757882	1.00[CHB][hapmap]
rs11758794	1.00[CHB][hapmap]
rs11759408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11962121	1.00[CHB][hapmap]
rs12110827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1404269	1.00[CHB][hapmap]
rs1464781	1.00[CHB][hapmap]
rs1474914	0.85[EUR][1000 genomes]
rs1534020	1.00[CHB][hapmap]
rs1562025	1.00[CHB][hapmap]
rs1807426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1880367	0.83[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs2009830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2314376	1.00[CHB][hapmap]
rs2314377	1.00[CHB][hapmap]
rs3778218	1.00[CHB][hapmap]
rs3778225	1.00[CHB][hapmap]
rs3798916	1.00[CHB][hapmap]
rs3823057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs41268545	0.89[ASN][1000 genomes]
rs55799452	0.89[ASN][1000 genomes]
rs6455707	0.93[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6905734	1.00[CHB][hapmap]
rs6912308	0.87[CEU][hapmap];0.83[YRI][hapmap]
rs6940321	1.00[CHB][hapmap]
rs7752907	0.90[ASN][1000 genomes]
rs7754215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7754525	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9365245	1.00[CHB][hapmap]
rs9456635	1.00[CHB][hapmap]
rs9458121	1.00[CHB][hapmap]
rs9458135	1.00[CHB][hapmap]
rs9458141	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv526643	chr6:161559040-161561256	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv527098	chr6:161559040-161565158	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161541400-161562200	Weak transcription	NHDF-Ad	bronchial
3	chr6:161542000-161567200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
5	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
6	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:161546200-161560800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:161548200-161562000	Strong transcription	Fetal Intestine Small	intestine
9	chr6:161548200-161562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:161548400-161561200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
12	chr6:161549200-161565600	Strong transcription	Brain Germinal Matrix	brain
13	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
14	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
15	chr6:161549600-161561200	Weak transcription	NH-A	brain
16	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:161550200-161560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:161550200-161562600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:161550400-161567000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:161550600-161562200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:161551400-161561600	Strong transcription	Primary T cells from cord blood	blood
24	chr6:161551800-161560600	Weak transcription	K562	blood
25	chr6:161553000-161560400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:161553000-161561200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:161553000-161564400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:161553200-161560200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:161553200-161569600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:161553400-161560400	Strong transcription	Placenta	Placenta
31	chr6:161553400-161560600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:161553400-161562000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr6:161553400-161571800	Weak transcription	HUVEC	blood vessel
34	chr6:161553800-161560000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:161553800-161561000	Weak transcription	Dnd41	blood
36	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:161554000-161564600	Weak transcription	Liver	Liver
38	chr6:161554000-161574000	Weak transcription	Pancreas	Pancrea
39	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
40	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
41	chr6:161555200-161567000	Weak transcription	Fetal Lung	lung
42	chr6:161555400-161560400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:161555400-161562000	Weak transcription	Fetal Heart	heart
44	chr6:161555600-161560600	Strong transcription	NHLF	lung
45	chr6:161555600-161561000	Strong transcription	Lung	lung
46	chr6:161555600-161562600	Strong transcription	Spleen	Spleen
47	chr6:161555600-161568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:161556000-161560000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:161556200-161565200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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