Variant report

Variant	rs7311711
Chromosome Location	chr12:30781496-30781497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11050994	1.00[EUR][1000 genomes]
rs11051017	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11519114	1.00[EUR][1000 genomes]
rs2083251	0.92[EUR][1000 genomes]
rs7134692	0.88[EUR][1000 genomes]
rs7135640	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7295175	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
3	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:30770600-30783400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:30770800-30783200	Weak transcription	Fetal Stomach	stomach
6	chr12:30771000-30781600	Weak transcription	Fetal Brain Female	brain
7	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
8	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
9	chr12:30771400-30783000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:30771400-30783000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:30771400-30783000	Weak transcription	HSMMtube	muscle
12	chr12:30772800-30783400	Weak transcription	A549	lung
13	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:30775000-30781600	Weak transcription	HUVEC	blood vessel
15	chr12:30775200-30783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:30775600-30781600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
18	chr12:30775800-30783000	Weak transcription	HSMM	muscle
19	chr12:30775800-30784800	Weak transcription	GM12878-XiMat	blood
20	chr12:30775800-30813200	Weak transcription	HMEC	breast
21	chr12:30775800-30815200	Weak transcription	NHEK	skin
22	chr12:30776000-30782800	Weak transcription	NHDF-Ad	bronchial
23	chr12:30776000-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:30776200-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:30776800-30783200	Weak transcription	Ovary	ovary
27	chr12:30776800-30791000	Weak transcription	Psoas Muscle	Psoas
28	chr12:30777000-30782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:30777200-30783200	Weak transcription	Lung	lung
30	chr12:30777200-30783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:30777800-30783000	Weak transcription	Placenta	Placenta
32	chr12:30778000-30786400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:30779200-30782200	Weak transcription	Fetal Lung	lung
34	chr12:30779200-30783000	Weak transcription	Thymus	Thymus
35	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:30779400-30782600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:30779400-30796400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:30779600-30782800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:30779800-30783000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:30779800-30783000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:30780000-30781600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:30780000-30781600	Weak transcription	Colonic Mucosa	Colon
44	chr12:30780000-30782200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:30780000-30782200	Weak transcription	Brain Anterior Caudate	brain
46	chr12:30780000-30782800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:30780200-30782800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:30780200-30795000	Weak transcription	Fetal Intestine Small	intestine
49	chr12:30780400-30796200	Weak transcription	Hela-S3	cervix
50	chr12:30780600-30782200	Strong transcription	Primary hematopoietic stem cells	blood

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