Variant report

Variant	rs9503127
Chromosome Location	chr6:2222733-2222734
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	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10046434	0.84[ASN][1000 genomes]
rs12175387	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13207508	0.84[ASN][1000 genomes]
rs2295007	0.88[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs234912	0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs3778566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800191	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4147082	0.87[ASN][1000 genomes]
rs61245983	0.84[ASN][1000 genomes]
rs61372774	0.86[ASN][1000 genomes]
rs6903476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830193	0.84[ASN][1000 genomes]
rs9501818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9503125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1022623	chr6:2199666-2267750	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv538100	chr6:2199666-2267750	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:2219400-2224600	Genic enhancers	HepG2	liver
4	chr6:2221400-2222800	Weak transcription	Gastric	stomach
5	chr6:2221800-2223000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:2221800-2223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:2221800-2223200	Flanking Active TSS	Hela-S3	cervix
8	chr6:2222000-2222800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:2222000-2222800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:2222000-2222800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr6:2222000-2222800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:2222000-2222800	Active TSS	Brain Angular Gyrus	brain
13	chr6:2222000-2222800	Active TSS	Brain Anterior Caudate	brain
14	chr6:2222000-2222800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:2222000-2222800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:2222000-2222800	Active TSS	Right Atrium	heart
17	chr6:2222000-2223000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr6:2222000-2223000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr6:2222000-2223000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr6:2222000-2223000	Active TSS	Rectal Smooth Muscle	rectum
21	chr6:2222000-2223000	Enhancers	HSMMtube	muscle
22	chr6:2222200-2222800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:2222200-2222800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:2222200-2222800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:2222200-2223000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:2222200-2223000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:2222200-2223000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:2222200-2223000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:2222200-2223000	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:2222200-2223000	Enhancers	HSMM	muscle
31	chr6:2222200-2223200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:2222200-2223200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:2222200-2223200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:2222400-2222800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr6:2222400-2222800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr6:2222400-2222800	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr6:2222400-2222800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:2222400-2222800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr6:2222400-2222800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:2222400-2222800	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr6:2222400-2222800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:2222400-2222800	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr6:2222400-2222800	Flanking Active TSS	A549	lung
44	chr6:2222400-2222800	Flanking Active TSS	HMEC	breast
45	chr6:2222400-2222800	Flanking Active TSS	HUVEC	blood vessel
46	chr6:2222400-2222800	Enhancers	K562	blood
47	chr6:2222400-2222800	Flanking Active TSS	NHLF	lung
48	chr6:2222400-2223000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:2222400-2223000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:2222400-2223000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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