Variant report

Variant	rs2009830
Chromosome Location	chr6:161561169-161561170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161548339..161550868-chr6:161560378..161562313,2	K562	blood:
2	chr6:161559206..161562379-chr6:161569331..161573848,4	K562	blood:
3	chr6:161560244..161562389-chr6:161588061..161590978,2	K562	blood:
4	chr6:161553132..161555472-chr6:161560642..161562345,2	K562	blood:
5	chr6:161559206..161561211-chr6:161569331..161570854,2	K562	blood:
6	chr6:161561088..161561843-chr6:161794669..161795618,3	K562	blood:
7	chr6:161552329..161556769-chr6:161557901..161562142,6	K562	blood:
8	chr6:161412392..161413995-chr6:161559264..161562128,3	K562	blood:
9	chr6:161559424..161561284-chr6:161580319..161582815,2	K562	blood:

No data

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1001421	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1001422	1.00[CHB][hapmap]
rs1001756	1.00[CHB][hapmap]
rs10945716	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10945718	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
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];1.00[ASN][1000 genomes]
rs11962121	1.00[CHB][hapmap]
rs11963991	0.88[AFR][1000 genomes]
rs12110827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404269	1.00[CHB][hapmap]
rs1464781	1.00[CHB][hapmap]
rs1534020	1.00[CHB][hapmap]
rs1562025	1.00[CHB][hapmap]
rs1807426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1880367	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2314190	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]
rs3778221	0.88[ASN][1000 genomes]
rs3778225	1.00[CHB][hapmap]
rs3798916	1.00[CHB][hapmap]
rs3823057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41268545	1.00[ASN][1000 genomes]
rs55799452	1.00[ASN][1000 genomes]
rs6455707	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6905734	1.00[CHB][hapmap]
rs6940321	1.00[CHB][hapmap]
rs7752907	0.80[ASN][1000 genomes]
rs7754215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7754525	0.89[ASN][1000 genomes]
rs7759013	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9365245	1.00[CHB][hapmap]
rs9456635	1.00[CHB][hapmap]
rs9458121	1.00[CHB][hapmap]
rs9458135	1.00[CHB][hapmap]
rs9458141	1.00[CHB][hapmap]

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:104 , 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	chr6:161548200-161562000	Strong transcription	Fetal Intestine Small	intestine
8	chr6:161548200-161562800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:161548400-161561200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
11	chr6:161549200-161565600	Strong transcription	Brain Germinal Matrix	brain
12	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
13	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
14	chr6:161549600-161561200	Weak transcription	NH-A	brain
15	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:161550200-161562600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:161550400-161567000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:161550600-161562200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:161551400-161561600	Strong transcription	Primary T cells from cord blood	blood
22	chr6:161553000-161561200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:161553000-161564400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:161553200-161569600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:161553400-161562000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr6:161553400-161571800	Weak transcription	HUVEC	blood vessel
27	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:161554000-161564600	Weak transcription	Liver	Liver
29	chr6:161554000-161574000	Weak transcription	Pancreas	Pancrea
30	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
31	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
32	chr6:161555200-161567000	Weak transcription	Fetal Lung	lung
33	chr6:161555400-161562000	Weak transcription	Fetal Heart	heart
34	chr6:161555600-161562600	Strong transcription	Spleen	Spleen
35	chr6:161555600-161568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:161556200-161565200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:161556200-161566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:161556600-161567800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:161557600-161567000	Weak transcription	Left Ventricle	heart
41	chr6:161557600-161569200	Weak transcription	Aorta	Aorta
42	chr6:161557600-161574400	Weak transcription	Gastric	stomach
43	chr6:161557600-161581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:161557800-161584200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:161558000-161565000	Weak transcription	Adipose Nuclei	Adipose
46	chr6:161558200-161571400	Weak transcription	Thymus	Thymus
47	chr6:161558200-161571800	Weak transcription	Primary B cells from cord blood	blood
48	chr6:161558200-161577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:161558200-161582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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