Variant report

Variant	rs56271113
Chromosome Location	chr12:64964790-64964791
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	chr12:64959032..64961860-chr12:64963161..64965792,2	K562	blood:
2	chr12:64962295..64965287-chr12:64977831..64979712,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10506536	1.00[EUR][1000 genomes]
rs11175472	1.00[EUR][1000 genomes]
rs11175473	1.00[EUR][1000 genomes]
rs11175516	1.00[EUR][1000 genomes]
rs12304348	1.00[EUR][1000 genomes]
rs12304958	1.00[EUR][1000 genomes]
rs12314167	1.00[EUR][1000 genomes]
rs12321771	1.00[EUR][1000 genomes]
rs12322583	1.00[EUR][1000 genomes]
rs13377735	1.00[EUR][1000 genomes]
rs17100505	1.00[EUR][1000 genomes]
rs55657746	1.00[EUR][1000 genomes]
rs59998584	1.00[EUR][1000 genomes]
rs61228947	1.00[EUR][1000 genomes]
rs73317542	1.00[EUR][1000 genomes]
rs74098118	1.00[EUR][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64959200-64966000	Enhancers	Fetal Muscle Leg	muscle
2	chr12:64960000-64964800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:64960600-64966400	Enhancers	Fetal Thymus	thymus
4	chr12:64961000-64965200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:64961200-64965000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:64961200-64967000	Enhancers	Thymus	Thymus
7	chr12:64961800-64965200	Weak transcription	Pancreas	Pancrea
8	chr12:64962400-64965000	Weak transcription	Primary T cells from cord blood	blood
9	chr12:64962400-64965400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:64962600-64965200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:64962600-64965200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:64962800-64965400	Enhancers	Brain Hippocampus Middle	brain
13	chr12:64962800-64965400	Enhancers	Brain Substantia Nigra	brain
14	chr12:64963000-64964800	Enhancers	Brain Anterior Caudate	brain
15	chr12:64963000-64965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:64963000-64965200	Weak transcription	Small Intestine	intestine
17	chr12:64963000-64965600	Enhancers	Brain Germinal Matrix	brain
18	chr12:64963200-64964800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:64963200-64965000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:64963200-64965000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:64963200-64965000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:64963200-64965000	Weak transcription	Fetal Brain Female	brain
23	chr12:64963200-64965400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:64963200-64968400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:64963400-64965000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:64963400-64965000	Weak transcription	Left Ventricle	heart
27	chr12:64963400-64965200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:64963800-64965200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:64963800-64976400	Weak transcription	Right Atrium	heart
30	chr12:64964000-64965800	Enhancers	Fetal Stomach	stomach
31	chr12:64964400-64965400	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:64964400-64965800	Enhancers	Fetal Brain Male	brain
33	chr12:64964400-64966000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:64964600-64964800	Enhancers	Ovary	ovary
35	chr12:64964600-64964800	Enhancers	NHDF-Ad	bronchial
36	chr12:64964600-64965000	Weak transcription	Rectal Mucosa Donor 29	rectum

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