Variant report

Variant	rs10861569
Chromosome Location	chr12:106678557-106678558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:106677880-106678835	H1-neurons	neurons:	n/a	n/a
2	RCOR1	chr12:106678516-106678854	K562	blood:	n/a	n/a
3	CTCF	chr12:106678520-106678670	GM12866	blood:	n/a	n/a
4	MBD4	chr12:106678257-106678748	HepG2	liver:	n/a	n/a
5	FOSL2	chr12:106678211-106678824	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:106678116-106678836	HepG2	liver:	n/a	n/a
7	TCF12	chr12:106678380-106678714	HepG2	liver:	n/a	n/a
8	REST	chr12:106678323-106678728	HepG2	liver:	n/a	n/a
9	EP300	chr12:106678282-106678769	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:106678158-106678733	HepG2	liver:	n/a	n/a
11	MAX	chr12:106678205-106679037	HepG2	liver:	n/a	n/a
12	MAFK	chr12:106678033-106678583	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:106678109-106678703	H1-neurons	neurons:	n/a	n/a
14	FOXA2	chr12:106677916-106679001	HepG2	liver:	n/a	n/a
15	HDAC2	chr12:106678326-106678682	HepG2	liver:	n/a	n/a
16	SMC3	chr12:106678420-106678840	HepG2	liver:	n/a	n/a
17	BHLHE40	chr12:106678301-106678842	HepG2	liver:	n/a	n/a
18	EP300	chr12:106678194-106678841	HepG2	liver:	n/a	n/a
19	MAZ	chr12:106678385-106678767	HepG2	liver:	n/a	n/a
20	MYBL2	chr12:106678115-106678824	HepG2	liver:	n/a	n/a
21	FOXA1	chr12:106678183-106678812	HepG2	liver:	n/a	n/a
22	HNF4A	chr12:106678297-106678685	HepG2	liver:	n/a	n/a
23	HNF4A	chr12:106678358-106678659	HepG2	liver:	n/a	n/a
24	CHD2	chr12:106678427-106678712	HepG2	liver:	n/a	n/a
25	NFIC	chr12:106678309-106678694	HepG2	liver:	n/a	n/a
26	SP1	chr12:106678203-106678883	HepG2	liver:	n/a	n/a
27	REST	chr12:106677944-106679025	H1-neurons	neurons:	n/a	n/a
28	MXI1	chr12:106678165-106678889	HepG2	liver:	n/a	n/a
29	FOXA2	chr12:106678287-106678706	HepG2	liver:	n/a	n/a
30	RFX5	chr12:106678241-106678778	HepG2	liver:	n/a	n/a
31	FOSL2	chr12:106678263-106678790	HepG2	liver:	n/a	n/a
32	RCOR1	chr12:106678405-106678763	HepG2	liver:	n/a	n/a
33	RXRA	chr12:106678293-106678700	HepG2	liver:	n/a	n/a
34	MAX	chr12:106678375-106678732	HepG2	liver:	n/a	n/a
35	JUND	chr12:106678298-106678729	HepG2	liver:	n/a	n/a
36	FOXA1	chr12:106678186-106678773	HepG2	liver:	n/a	n/a
37	EP300	chr12:106678343-106678738	HepG2	liver:	n/a	n/a
38	TCF7L2	chr12:106678267-106678789	HepG2	liver:	n/a	n/a
39	ARID3A	chr12:106678171-106679157	HepG2	liver:	n/a	n/a
40	NFIC	chr12:106678218-106678833	HepG2	liver:	n/a	n/a
41	JUND	chr12:106678359-106678660	HepG2	liver:	n/a	n/a
42	JUND	chr12:106678325-106678688	HepG2	liver:	n/a	n/a
43	MYBL2	chr12:106678247-106678738	HepG2	liver:	n/a	n/a
44	FOXA1	chr12:106678235-106678728	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-94P	TF binding region
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10507210	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746057	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778460	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10861567	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11112926	0.87[ASN][1000 genomes]
rs11112927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11112928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1148408	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1148409	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1148410	0.96[ASN][1000 genomes]
rs1148411	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1148412	0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1148442	0.91[ASN][1000 genomes]
rs1148443	0.95[ASN][1000 genomes]
rs1215808	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12230190	0.96[ASN][1000 genomes]
rs12823006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2047545	0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2279760	0.81[JPT][hapmap]
rs7304941	0.81[JPT][hapmap]
rs7308143	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311121	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311133	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315560	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106666200-106680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106676200-106679200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:106676600-106681000	Weak transcription	Stomach Mucosa	stomach
4	chr12:106677000-106681400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:106677200-106678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:106677200-106682200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:106677200-106683600	Enhancers	HepG2	liver
8	chr12:106677600-106679000	Enhancers	Fetal Heart	heart
9	chr12:106677600-106679800	Enhancers	Fetal Brain Male	brain
10	chr12:106678000-106678600	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:106678000-106678800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:106678000-106679000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:106678200-106678600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:106678200-106678600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:106678200-106678800	Enhancers	Fetal Brain Female	brain
16	chr12:106678200-106678800	Enhancers	NHEK	skin
17	chr12:106678200-106679000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:106678200-106679000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:106678200-106679000	Enhancers	Spleen	Spleen
20	chr12:106678200-106679000	Enhancers	HUVEC	blood vessel
21	chr12:106678200-106679200	Enhancers	Psoas Muscle	Psoas
22	chr12:106678200-106679600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:106678400-106678600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:106678400-106678600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr12:106678400-106678600	Enhancers	Lung	lung
26	chr12:106678400-106678800	Enhancers	Brain Angular Gyrus	brain
27	chr12:106678400-106678800	Enhancers	HSMMtube	muscle
28	chr12:106678400-106679000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr12:106678400-106680000	Enhancers	Left Ventricle	heart
30	chr12:106678400-106680000	Enhancers	Right Atrium	heart

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