Variant report

Variant	rs9365252
Chromosome Location	chr6:161534615-161534616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161497804..161499957-chr6:161534072..161535875,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1001421	1.00[CHB][hapmap]
rs1001422	1.00[CHB][hapmap]
rs1001756	1.00[CHB][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];1.00[CHD][hapmap]
rs11759408	1.00[CHB][hapmap]
rs11962121	1.00[CHB][hapmap]
rs12110827	1.00[CHB][hapmap]
rs12527150	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1404269	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1464781	1.00[CHB][hapmap]
rs1488	0.83[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1534020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1562025	1.00[CHB][hapmap]
rs1569937	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807426	1.00[CHB][hapmap]
rs1822520	0.87[ASN][1000 genomes]
rs2009830	1.00[CHB][hapmap]
rs2177587	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2314190	1.00[CHB][hapmap]
rs2314376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2314377	1.00[CHB][hapmap]
rs3757021	0.83[MKK][hapmap]
rs3778218	1.00[CHB][hapmap]
rs3778225	1.00[CHB][hapmap]
rs3798916	1.00[CHB][hapmap]
rs3823057	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs4709485	0.84[CEU][hapmap]
rs4709494	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6905734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6919510	0.87[ASN][1000 genomes]
rs6940321	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7754215	1.00[CHB][hapmap]
rs9365245	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs9456635	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9458121	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9458135	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9458141	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:161500200-161540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:161500600-161539800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr6:161500600-161541800	Strong transcription	K562	blood
11	chr6:161500800-161538200	Strong transcription	Primary B cells from cord blood	blood
12	chr6:161510800-161537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:161514000-161544600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:161514400-161539800	Strong transcription	Left Ventricle	heart
15	chr6:161514600-161541000	Strong transcription	Fetal Intestine Large	intestine
16	chr6:161517000-161539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:161517600-161543000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:161517800-161540400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:161517800-161542200	Strong transcription	Liver	Liver
20	chr6:161518000-161534800	Strong transcription	Brain Anterior Caudate	brain
21	chr6:161518000-161537200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:161518000-161538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:161518000-161538600	Strong transcription	Fetal Stomach	stomach
24	chr6:161518000-161539600	Strong transcription	Fetal Muscle Leg	muscle
25	chr6:161518000-161540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:161518000-161540800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:161518000-161541400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:161518200-161539800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:161521600-161539600	Weak transcription	Hela-S3	cervix
30	chr6:161522400-161542400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr6:161522600-161535400	Strong transcription	HUVEC	blood vessel
32	chr6:161523400-161536200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:161523800-161540800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:161524000-161535400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:161524400-161540000	Strong transcription	HepG2	liver
36	chr6:161525800-161541200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:161526000-161541200	Strong transcription	Dnd41	blood
38	chr6:161526600-161540600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:161526600-161541400	Strong transcription	Placenta	Placenta
40	chr6:161526600-161542200	Strong transcription	Adipose Nuclei	Adipose
41	chr6:161526800-161539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:161527000-161540000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:161527000-161540600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:161527000-161543000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:161527200-161539600	Strong transcription	Fetal Brain Female	brain
46	chr6:161527200-161542800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:161527400-161538400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr6:161527400-161539600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:161527400-161543600	Strong transcription	Fetal Lung	lung
50	chr6:161527600-161534800	Strong transcription	H1 Cell Line	embryonic stem cell

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