Variant report

Variant	rs12115388
Chromosome Location	chr9:115935532-115935533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115930303..115932387-chr9:115934929..115937094,2	K562	blood:
2	chr9:115935268..115937947-chr9:115939386..115941079,2	K562	blood:
3	chr9:115934999..115936781-chr9:115940096..115941741,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10759634	0.80[EUR][1000 genomes]
rs10817446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs10817449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817459	0.85[EUR][1000 genomes]
rs10817464	0.80[EUR][1000 genomes]
rs10981648	1.00[CEU][hapmap]
rs10981650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs10981655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981659	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981674	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981681	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981683	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981690	0.80[EUR][1000 genomes]
rs10981695	0.80[EUR][1000 genomes]
rs1128116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128122	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340409	1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12378957	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17762224	0.87[AFR][1000 genomes]
rs3923601	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3923602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs3935394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273923	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57247612	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57348436	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7467882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858741	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1051654	chr9:115881588-115935663	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv466507	chr9:115905850-115936903	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv615213	chr9:115905850-115936903	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115917800-115949400	Strong transcription	Placenta	Placenta
2	chr9:115918400-115947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:115918800-115937000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:115919000-115935600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:115919000-115936800	Strong transcription	Fetal Brain Female	brain
6	chr9:115919200-115937400	Strong transcription	HMEC	breast
7	chr9:115919200-115950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:115919400-115936800	Strong transcription	Pancreas	Pancrea
9	chr9:115919400-115937000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:115919400-115937200	Strong transcription	Fetal Stomach	stomach
11	chr9:115919400-115950800	Strong transcription	Primary T cells from cord blood	blood
12	chr9:115919400-115954200	Strong transcription	Fetal Intestine Large	intestine
13	chr9:115919600-115936800	Strong transcription	Fetal Intestine Small	intestine
14	chr9:115919600-115938000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:115919600-115938800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:115919600-115940200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:115919800-115937000	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:115919800-115939400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:115920000-115939000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr9:115920000-115942400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr9:115920000-115950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:115920000-115951400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:115920000-115970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr9:115920200-115956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:115920400-115937200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr9:115920600-115937200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:115920600-115941600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr9:115920800-115966400	Strong transcription	Dnd41	blood
31	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:115921000-115937800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:115921200-115936800	Strong transcription	Thymus	Thymus
34	chr9:115921800-115936800	Strong transcription	Primary B cells from cord blood	blood
35	chr9:115921800-115951000	Strong transcription	Fetal Thymus	thymus
36	chr9:115922400-115942000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:115922800-115956400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr9:115923000-115942200	Strong transcription	GM12878-XiMat	blood
39	chr9:115923000-115956200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr9:115923200-115937000	Strong transcription	Lung	lung
41	chr9:115923200-115940800	Strong transcription	NHEK	skin
42	chr9:115923400-115941800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr9:115923600-115937000	Strong transcription	Colonic Mucosa	Colon
45	chr9:115923600-115937000	Strong transcription	Ovary	ovary
46	chr9:115923600-115937000	Strong transcription	Spleen	Spleen
47	chr9:115923600-115953600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr9:115923800-115937000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr9:115923800-115937000	Strong transcription	K562	blood
50	chr9:115923800-115937200	Strong transcription	HUVEC	blood vessel

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