Variant report

Variant	rs12002551
Chromosome Location	chr9:7008393-7008394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10815500	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs10975954	0.82[CEU][hapmap]
rs10975965	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12003023	0.86[CHB][hapmap]
rs12003442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342947	0.86[CHB][hapmap]
rs1340512	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs1575452	0.86[CHB][hapmap]
rs16925200	0.86[CHB][hapmap]
rs2025326	0.85[JPT][hapmap]
rs2153503	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs2760650	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs2760654	0.85[JPT][hapmap]
rs2760655	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs2792245	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs58565843	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870402	chr9:6565246-7016784	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1033539	chr9:6566610-7022554	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv466111	chr9:6567841-7017391	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv613208	chr9:6567841-7017391	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv1024831	chr9:6573752-7018641	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
6	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv892181	chr9:6680477-7070962	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
8	nsv613252	chr9:6715730-7022554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv1023461	chr9:6774993-7022554	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv831501	chr9:6868099-7058526	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv892185	chr9:6929053-7070962	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1021234	chr9:6933222-7015397	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv870178	chr9:6941584-7060029	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv892186	chr9:6942605-7075305	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv892187	chr9:6974101-7035727	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv949711	chr9:6994399-7045058	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv892188	chr9:6999846-7026860	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6972000-7013200	Weak transcription	Fetal Kidney	kidney
2	chr9:6976200-7011800	Weak transcription	Psoas Muscle	Psoas
3	chr9:6979800-7018600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:6980200-7008400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr9:6981400-7011200	Weak transcription	HUVEC	blood vessel
6	chr9:6983000-7008600	Weak transcription	Fetal Brain Female	brain
7	chr9:6983400-7010200	Weak transcription	Stomach Mucosa	stomach
8	chr9:6984000-7018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:6985600-7008400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:6985600-7011200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:6985600-7019200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:6985600-7035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:6986800-7015600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:6987200-7008400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:6987400-7008600	Weak transcription	Hela-S3	cervix
16	chr9:6987600-7008400	Weak transcription	Osteobl	bone
17	chr9:6995400-7008600	Weak transcription	HMEC	breast
18	chr9:6995600-7008400	Weak transcription	Brain Anterior Caudate	brain
19	chr9:6995600-7008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:6997000-7008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:6997800-7008400	Weak transcription	HSMMtube	muscle
22	chr9:6998000-7010400	Weak transcription	Fetal Heart	heart
23	chr9:6998200-7008400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:7000200-7008400	Weak transcription	Brain Substantia Nigra	brain
25	chr9:7000200-7008400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:7003400-7012800	Weak transcription	Brain Germinal Matrix	brain
27	chr9:7003600-7010400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr9:7006400-7009800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:7007000-7008400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr9:7007000-7008600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:7007200-7009800	Strong transcription	Fetal Intestine Large	intestine
32	chr9:7007400-7009400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:7007600-7009800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr9:7007800-7008400	Weak transcription	HSMM	muscle
35	chr9:7007800-7009000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr9:7007800-7019000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr9:7008000-7008400	Strong transcription	Brain Angular Gyrus	brain
38	chr9:7008000-7008600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:7008000-7008600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:7008000-7008600	Strong transcription	Fetal Stomach	stomach
41	chr9:7008000-7008800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:7008000-7008800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:7008000-7008800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:7008000-7008800	ZNF genes & repeats	K562	blood
45	chr9:7008000-7009000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr9:7008000-7009000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:7008000-7009000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:7008000-7009000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:7008000-7009000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:7008000-7009000	Strong transcription	Brain Inferior Temporal Lobe	brain

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