Variant report

Variant	rs10975978
Chromosome Location	chr9:7018817-7018818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1093707	0.83[JPT][hapmap]
rs10975979	0.81[AMR][1000 genomes]
rs12235561	0.81[AMR][1000 genomes]
rs1323402	0.82[JPT][hapmap]
rs1407861	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73401806	0.81[AMR][1000 genomes]
rs7857570	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7865020	0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv613257	chr9:7015330-7037370	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6985600-7019200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:6985600-7035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:7007800-7019000	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr9:7008800-7024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:7009000-7019000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:7009000-7019800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:7009000-7021600	Weak transcription	HMEC	breast
8	chr9:7009000-7026200	Weak transcription	A549	lung
9	chr9:7009000-7027400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:7009000-7027800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:7009000-7027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:7009000-7028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:7009000-7030400	Weak transcription	NHEK	skin
14	chr9:7009000-7044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:7009000-7046200	Weak transcription	Small Intestine	intestine
16	chr9:7009000-7055200	Weak transcription	K562	blood
17	chr9:7009000-7056400	Weak transcription	Brain Substantia Nigra	brain
18	chr9:7009000-7076600	Weak transcription	HSMM	muscle
19	chr9:7009200-7077600	Weak transcription	Osteobl	bone
20	chr9:7009400-7019200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr9:7009400-7029600	Weak transcription	Hela-S3	cervix
22	chr9:7009400-7042000	Weak transcription	NHDF-Ad	bronchial
23	chr9:7009600-7020400	Strong transcription	Primary B cells from cord blood	blood
24	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
25	chr9:7010400-7020600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr9:7011000-7021000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:7011200-7019600	Strong transcription	Liver	Liver
28	chr9:7011400-7019400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr9:7011400-7020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr9:7011600-7019600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:7011600-7019800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr9:7011800-7048800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:7012200-7027400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:7012200-7027400	Weak transcription	Brain Anterior Caudate	brain
35	chr9:7012200-7027400	Weak transcription	Right Ventricle	heart
36	chr9:7012200-7027400	Weak transcription	Spleen	Spleen
37	chr9:7012200-7027600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:7012200-7046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:7012200-7052600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
41	chr9:7012400-7028000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:7012600-7019600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:7012800-7019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:7012800-7027600	Weak transcription	Esophagus	oesophagus
45	chr9:7012800-7028400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:7012800-7048800	Weak transcription	Dnd41	blood
47	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
48	chr9:7013600-7020000	Weak transcription	Fetal Heart	heart
49	chr9:7013800-7031800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr9:7014200-7019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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