Variant report

Variant	rs12683673
Chromosome Location	chr9:7151012-7151013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7149048..7151328-chr9:7152979..7155533,2	K562	blood:
2	chr9:7131849..7134386-chr9:7150388..7153232,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12685394	1.00[JPT][hapmap]
rs7032613	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	nsv892191	chr9:7150997-7173752	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7104800-7153200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:7128000-7153200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:7130200-7154800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:7130600-7152400	Weak transcription	Small Intestine	intestine
5	chr9:7135200-7164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:7136600-7153200	Weak transcription	HepG2	liver
7	chr9:7146600-7151200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:7146800-7152000	Enhancers	Placenta	Placenta
9	chr9:7147200-7152400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:7147400-7152000	Weak transcription	NHLF	lung
12	chr9:7147400-7165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:7147400-7174600	Weak transcription	NHEK	skin
14	chr9:7147600-7151600	Strong transcription	Fetal Intestine Small	intestine
15	chr9:7147600-7153800	Weak transcription	Brain Germinal Matrix	brain
16	chr9:7147600-7155200	Enhancers	Fetal Heart	heart
17	chr9:7147800-7165200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:7148200-7151200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr9:7148200-7151600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:7148400-7151600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr9:7148400-7152000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr9:7148400-7153400	Weak transcription	Aorta	Aorta
23	chr9:7148400-7153400	Weak transcription	Brain Anterior Caudate	brain
24	chr9:7148600-7151200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:7148600-7151600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:7148600-7152000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:7148600-7153200	Weak transcription	Pancreas	Pancrea
28	chr9:7148600-7161000	Weak transcription	Ovary	ovary
29	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:7148600-7185400	Weak transcription	HMEC	breast
31	chr9:7148800-7151600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr9:7148800-7151800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:7148800-7153200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:7148800-7153200	Weak transcription	Brain Substantia Nigra	brain
35	chr9:7148800-7153800	Weak transcription	Dnd41	blood
36	chr9:7148800-7154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:7148800-7164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:7149000-7151400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:7149000-7151400	Enhancers	Primary T cells from cord blood	blood
40	chr9:7149000-7151600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr9:7149000-7153600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:7149000-7165000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:7149000-7165200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:7149200-7151600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:7149200-7164800	Weak transcription	Liver	Liver
46	chr9:7149200-7165200	Weak transcription	Thymus	Thymus
47	chr9:7149400-7151400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr9:7149400-7153200	Weak transcription	Right Atrium	heart
49	chr9:7149400-7153800	Weak transcription	Fetal Intestine Large	intestine
50	chr9:7149400-7164600	Weak transcription	Stomach Smooth Muscle	stomach

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