Variant report

Variant	rs7856141
Chromosome Location	chr9:116812084-116812085
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	chr9:116810230..116814286-chr9:116816230..116818443,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10116543	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10118282	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10982036	0.89[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10982037	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10982039	0.87[EUR][1000 genomes]
rs10982044	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10982046	0.90[EUR][1000 genomes]
rs12378906	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12380714	1.00[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12555049	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1359171	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1359172	0.89[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1408115	1.00[YRI][hapmap]
rs16911753	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1965753	0.94[YRI][hapmap]
rs41277651	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846976	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs7869264	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
6	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 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	chr9:116787000-116812800	Weak transcription	Primary B cells from cord blood	blood
2	chr9:116793200-116812200	Weak transcription	K562	blood
3	chr9:116793200-116813800	Weak transcription	NHEK	skin
4	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
5	chr9:116796200-116815800	Weak transcription	Small Intestine	intestine
6	chr9:116804400-116816400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:116805800-116813400	Weak transcription	Fetal Brain Male	brain
8	chr9:116807400-116814400	Strong transcription	Fetal Lung	lung
9	chr9:116807600-116817200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:116807800-116815200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:116807800-116816200	Strong transcription	Liver	Liver
12	chr9:116808400-116816600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:116808600-116817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:116808800-116812400	Strong transcription	HSMM	muscle
15	chr9:116809200-116814400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:116809400-116816200	Strong transcription	HUVEC	blood vessel
17	chr9:116809400-116818800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:116809800-116814600	Strong transcription	A549	lung
19	chr9:116809800-116815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:116809800-116815000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:116809800-116815000	Strong transcription	Ovary	ovary
22	chr9:116809800-116815000	Strong transcription	NHLF	lung
23	chr9:116809800-116816400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:116809800-116817600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:116809800-116821600	Strong transcription	Fetal Stomach	stomach
26	chr9:116809800-116822000	Strong transcription	Fetal Intestine Small	intestine
27	chr9:116810000-116812200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:116810000-116813000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:116810000-116813000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:116810000-116813800	Strong transcription	Aorta	Aorta
31	chr9:116810000-116813800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:116810000-116814200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:116810000-116815400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:116810000-116816200	Strong transcription	Adipose Nuclei	Adipose
35	chr9:116810000-116816200	Strong transcription	Brain Germinal Matrix	brain
36	chr9:116810000-116816400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr9:116810000-116817000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:116810000-116817600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:116810200-116812600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr9:116810200-116813000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:116810200-116813800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr9:116810200-116814000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:116810200-116814200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr9:116810200-116814400	Strong transcription	NH-A	brain
45	chr9:116810200-116814800	Strong transcription	HSMMtube	muscle
46	chr9:116810200-116815000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:116810200-116815000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:116810200-116815000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr9:116810200-116815200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:116810200-116815400	Strong transcription	Osteobl	bone

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