Variant report

Variant	rs56851901
Chromosome Location	chr12:56549076-56549077
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56548952-56549100	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:56548363-56549567	SK-N-MC	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56548023..56550325-chr12:56616398..56618108,2	K562	blood:
2	chr12:56543953..56550163-chr12:56578779..56585351,11	MCF-7	breast:
3	chr12:56547858..56550622-chr12:56693107..56695416,2	MCF-7	breast:
4	chr12:56546962..56549504-chr12:56614764..56616913,2	MCF-7	breast:
5	chr12:56509009..56513573-chr12:56543891..56549811,15	MCF-7	breast:
6	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:

No data

Variant related genes	Relation type
MYL6	TF binding region
MYL6B	TF binding region
ENSG00000139579	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000258317	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10876878	0.83[ASN][1000 genomes]
rs11171752	0.94[ASN][1000 genomes]
rs11171772	0.83[ASN][1000 genomes]
rs11834728	1.00[ASN][1000 genomes]
rs12320265	0.83[ASN][1000 genomes]
rs1274502	0.83[ASN][1000 genomes]
rs1274503	0.83[ASN][1000 genomes]
rs1405859	0.83[ASN][1000 genomes]
rs17118333	1.00[ASN][1000 genomes]
rs2271188	1.00[ASN][1000 genomes]
rs2271190	1.00[ASN][1000 genomes]
rs2271192	0.94[ASN][1000 genomes]
rs2463365	0.83[ASN][1000 genomes]
rs2629451	0.83[ASN][1000 genomes]
rs2629453	0.83[ASN][1000 genomes]
rs2695783	0.83[ASN][1000 genomes]
rs2695784	0.83[ASN][1000 genomes]
rs28676339	1.00[ASN][1000 genomes]
rs2930788	0.83[ASN][1000 genomes]
rs2950573	0.83[ASN][1000 genomes]
rs3759096	1.00[ASN][1000 genomes]
rs3802996	1.00[ASN][1000 genomes]
rs3809130	1.00[ASN][1000 genomes]
rs55887836	0.93[ASN][1000 genomes]
rs57280585	1.00[ASN][1000 genomes]
rs58009483	0.83[ASN][1000 genomes]
rs58476735	1.00[ASN][1000 genomes]
rs58548156	1.00[ASN][1000 genomes]
rs58663297	1.00[ASN][1000 genomes]
rs59053322	0.83[ASN][1000 genomes]
rs59078852	0.83[ASN][1000 genomes]
rs59966703	0.83[ASN][1000 genomes]
rs60396934	1.00[ASN][1000 genomes]
rs61939011	0.83[ASN][1000 genomes]
rs703823	0.83[ASN][1000 genomes]
rs7489249	0.83[ASN][1000 genomes]
rs773654	0.83[ASN][1000 genomes]
rs773658	0.83[ASN][1000 genomes]
rs773659	0.83[ASN][1000 genomes]
rs773661	0.83[ASN][1000 genomes]
rs7962107	0.83[ASN][1000 genomes]
rs7967464	0.83[ASN][1000 genomes]
rs7975405	0.83[ASN][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56546800-56551000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:56546800-56551000	Weak transcription	Ovary	ovary
3	chr12:56546800-56551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:56547000-56549200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:56547000-56550600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:56547000-56550600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:56547000-56550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:56547000-56551000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:56547000-56551000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:56547000-56551000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:56547000-56551000	Weak transcription	Gastric	stomach
12	chr12:56547000-56551000	Weak transcription	Left Ventricle	heart
13	chr12:56547000-56551400	Weak transcription	Small Intestine	intestine
14	chr12:56547200-56549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:56547200-56549600	Weak transcription	Fetal Kidney	kidney
16	chr12:56547200-56550600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:56547200-56550600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:56547200-56550600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:56547200-56550800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:56547200-56550800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:56547200-56550800	Weak transcription	Right Ventricle	heart
22	chr12:56547200-56551000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:56547200-56551000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:56547200-56551000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:56547200-56551200	Weak transcription	Stomach Mucosa	stomach
26	chr12:56547400-56549200	Weak transcription	NHLF	lung
27	chr12:56547400-56550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:56547400-56550600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:56547400-56550600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:56547400-56550600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:56547400-56550800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:56547400-56550800	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:56547400-56550800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:56547400-56550800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:56547400-56550800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:56547400-56550800	Weak transcription	HMEC	breast
37	chr12:56547400-56551000	Weak transcription	Brain Substantia Nigra	brain
38	chr12:56547400-56551000	Weak transcription	Esophagus	oesophagus
39	chr12:56547400-56551000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:56547400-56551000	Weak transcription	Right Atrium	heart
41	chr12:56547400-56551000	Weak transcription	NHEK	skin
42	chr12:56547400-56551200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:56547400-56551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:56547600-56549200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:56547600-56549200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:56547600-56550400	Weak transcription	Primary B cells from cord blood	blood
47	chr12:56547600-56550400	Weak transcription	Spleen	Spleen
48	chr12:56547600-56550800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:56547600-56550800	Weak transcription	Colonic Mucosa	Colon
50	chr12:56547600-56550800	Weak transcription	Placenta	Placenta

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