Variant report

Variant	rs717381
Chromosome Location	chr9:7097991-7097992
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7091442..7093437-chr9:7097777..7099418,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10491780	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10758825	0.86[CEU][hapmap];0.82[YRI][hapmap]
rs10815514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10976037	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407863	0.81[YRI][hapmap]
rs4740872	0.82[CEU][hapmap];0.82[YRI][hapmap]
rs4742310	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6477153	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6477154	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7042418	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7849812	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7861286	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs912204	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869932	chr9:7068359-7133384	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv892189	chr9:7091968-7150997	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
2	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:7053200-7099200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:7061200-7104600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:7061600-7103600	Weak transcription	Spleen	Spleen
8	chr9:7067200-7103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:7068400-7103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:7073600-7099200	Weak transcription	NHEK	skin
11	chr9:7075600-7105800	Weak transcription	NHLF	lung
12	chr9:7076600-7103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:7077000-7098000	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:7077800-7103200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:7077800-7103200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:7077800-7103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr9:7077800-7103600	Weak transcription	Brain Angular Gyrus	brain
18	chr9:7077800-7103600	Weak transcription	HMEC	breast
19	chr9:7077800-7103600	Weak transcription	K562	blood
20	chr9:7077800-7103800	Weak transcription	HSMM	muscle
21	chr9:7078000-7103600	Weak transcription	Dnd41	blood
22	chr9:7078200-7103800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:7079400-7103200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:7079600-7103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:7082800-7103600	Weak transcription	Pancreas	Pancrea
26	chr9:7085400-7103600	Weak transcription	Brain Anterior Caudate	brain
27	chr9:7086600-7105600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:7087000-7099000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr9:7087000-7099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:7087000-7099400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:7087000-7099400	Weak transcription	Adipose Nuclei	Adipose
32	chr9:7087000-7099400	Weak transcription	Liver	Liver
33	chr9:7087000-7099400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:7087000-7099600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:7087000-7103400	Weak transcription	Fetal Stomach	stomach
36	chr9:7087000-7103400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:7087000-7103600	Weak transcription	Aorta	Aorta
38	chr9:7087000-7103600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:7087000-7103600	Weak transcription	Fetal Intestine Large	intestine
40	chr9:7087000-7103600	Weak transcription	Gastric	stomach
41	chr9:7087200-7098000	Weak transcription	Hela-S3	cervix
42	chr9:7087200-7103600	Weak transcription	HepG2	liver
43	chr9:7087200-7103800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr9:7087400-7099200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:7088600-7103600	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:7088800-7128000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr9:7089000-7103200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr9:7089800-7098000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:7090000-7099200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:7090200-7099000	Weak transcription	H1 Cell Line	embryonic stem cell

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