Variant report

Variant	rs7954995
Chromosome Location	chr12:30892902-30892903
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11613738	0.85[YRI][hapmap]
rs34087421	1.00[AFR][1000 genomes]
rs61735414	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
3	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
8	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:30871400-30900800	Weak transcription	K562	blood
11	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:30874600-30899000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:30876200-30894800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:30878000-30899200	Weak transcription	Fetal Brain Male	brain
17	chr12:30878000-30904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:30878000-30904400	Weak transcription	Pancreas	Pancrea
19	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:30879600-30899400	Weak transcription	NHDF-Ad	bronchial
22	chr12:30879800-30895000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:30879800-30905800	Weak transcription	NHLF	lung
24	chr12:30880000-30893800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:30882000-30899200	Weak transcription	Brain Germinal Matrix	brain
26	chr12:30882000-30899200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
28	chr12:30882200-30894600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:30882200-30899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:30882200-30899200	Weak transcription	Aorta	Aorta
31	chr12:30882200-30905600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:30882200-30905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:30882200-30906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:30882200-30906400	Weak transcription	Lung	lung
35	chr12:30882200-30906400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:30882200-30906600	Weak transcription	Placenta	Placenta
37	chr12:30882200-30906800	Weak transcription	Esophagus	oesophagus
38	chr12:30882400-30905400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:30882400-30906600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:30882600-30905400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:30882600-30906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:30882600-30906400	Weak transcription	Right Ventricle	heart
43	chr12:30882800-30906800	Weak transcription	Gastric	stomach
44	chr12:30883000-30899000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:30883200-30905800	Weak transcription	HSMMtube	muscle
46	chr12:30883200-30906400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:30883400-30897400	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:30884800-30905800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:30885000-30905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:30886000-30894000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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