Variant report

Variant	rs556111342
Chromosome Location	chr12:45211625-45211626
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	esv3354743	chr12:45210585-45214783	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45207000-45220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:45207600-45212400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45207800-45212000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:45208000-45212000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:45208000-45213400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45208000-45215800	Enhancers	Primary T cells from cord blood	blood
7	chr12:45208400-45213200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:45209000-45212600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45209200-45212000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:45209400-45211800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:45209400-45211800	Enhancers	Fetal Brain Male	brain
12	chr12:45209800-45211800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:45210000-45213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:45210200-45211800	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:45210200-45211800	Enhancers	Fetal Intestine Small	intestine
16	chr12:45210200-45212000	Enhancers	Fetal Intestine Large	intestine
17	chr12:45210800-45211800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:45211000-45213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:45211400-45211800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:45211400-45211800	Enhancers	Pancreas	Pancrea
21	chr12:45211400-45212400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:45211400-45213200	Weak transcription	Fetal Brain Female	brain
23	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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