Variant report

Variant	rs56115949
Chromosome Location	chr12:56370860-56370861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56370784-56371075	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:56363397..56371565-chr12:56432514..56437993,13	K562	blood:
2	chr12:56365739..56372949-chr12:56384756..56392202,12	MCF-7	breast:
3	chr12:56364512..56372057-chr12:56434108..56438254,11	MCF-7	breast:
4	chr12:56318492..56327488-chr12:56364288..56371675,16	MCF-7	breast:
5	chr12:56210044..56216553-chr12:56364276..56371676,13	MCF-7	breast:
6	chr12:56370164..56372810-chr12:56390146..56392371,2	MCF-7	breast:

No data

Variant related genes	Relation type
PMEL	TF binding region
ENSG00000139531	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000205323	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11837183	1.00[EUR][1000 genomes]
rs17118200	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035949	1.00[EUR][1000 genomes]
rs3213125	1.00[EUR][1000 genomes]
rs58717357	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60740107	1.00[EUR][1000 genomes]
rs7305481	1.00[EUR][1000 genomes]
rs901073	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	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
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 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	chr12:56368600-56371000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:56368600-56371600	Enhancers	Fetal Heart	heart
3	chr12:56368600-56374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:56368600-56375400	Weak transcription	Lung	lung
5	chr12:56368600-56383200	Weak transcription	Gastric	stomach
6	chr12:56368800-56374200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:56368800-56379000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56369000-56371000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:56369000-56372000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:56369000-56372400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:56369000-56373000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:56369000-56373000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:56369000-56374000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:56369000-56383600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:56369200-56371000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:56369200-56371200	Weak transcription	HMEC	breast
17	chr12:56369200-56371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:56369200-56371800	Weak transcription	Ovary	ovary
19	chr12:56369200-56372800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:56369200-56373000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:56369200-56373000	Weak transcription	NH-A	brain
22	chr12:56369200-56374000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:56369200-56374000	Weak transcription	HSMMtube	muscle
24	chr12:56369200-56374200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:56369200-56375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:56369200-56375200	Weak transcription	A549	lung
27	chr12:56369200-56376200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:56369200-56376200	Weak transcription	NHDF-Ad	bronchial
29	chr12:56369200-56379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:56369200-56380000	Weak transcription	Right Ventricle	heart
31	chr12:56369200-56380400	Weak transcription	Aorta	Aorta
32	chr12:56369200-56383600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:56369200-56384600	Weak transcription	Psoas Muscle	Psoas
34	chr12:56369400-56371600	Weak transcription	Colonic Mucosa	Colon
35	chr12:56369400-56371800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:56369400-56372600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:56369400-56372800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:56369400-56372800	Weak transcription	Fetal Intestine Large	intestine
39	chr12:56369400-56372800	Weak transcription	Hela-S3	cervix
40	chr12:56369400-56373000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:56369400-56373000	Weak transcription	Brain Anterior Caudate	brain
42	chr12:56369400-56373000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:56369400-56373400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:56369400-56374200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:56369400-56374200	Weak transcription	Esophagus	oesophagus
46	chr12:56369400-56374200	Weak transcription	Spleen	Spleen
47	chr12:56369400-56374400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:56369400-56375200	Weak transcription	Fetal Brain Female	brain
49	chr12:56369400-56375200	Weak transcription	Fetal Kidney	kidney
50	chr12:56369400-56379400	Strong transcription	Fetal Muscle Leg	muscle

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