Variant report

Variant	rs12712500
Chromosome Location	chr2:36604680-36604681
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:36604669-36604739	HUVEC	blood vessel:	n/a	n/a
2	MYC	chr2:36604313-36604731	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr2:36603176-36604765	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr2:36603062-36604732	A549	lung:	n/a	chr2:36604301-36604308
5	TEAD4	chr2:36603942-36604805	SK-N-SH	brain:	n/a	n/a
6	MAX	chr2:36603237-36604715	A549	lung:	n/a	n/a
7	GATA3	chr2:36603958-36604729	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr2:36603180-36604812	SK-N-SH	brain:	n/a	n/a
9	SP1	chr2:36603244-36604745	A549	lung:	n/a	chr2:36603618-36603632
10	PBX3	chr2:36603352-36604830	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr2:36602922-36605915	HUVEC	blood vessel:	n/a	n/a
12	REST	chr2:36603296-36604708	A549	lung:	n/a	chr2:36604290-36604299 chr2:36604330-36604350 chr2:36604293-36604306
13	FOSL2	chr2:36603988-36604768	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:36603953-36604983	ProgFib	skin:	n/a	n/a
15	EP300	chr2:36603286-36604848	SK-N-SH	brain:	n/a	chr2:36603893-36603907
16	JUND	chr2:36604026-36604836	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr2:36602829-36605623	HepG2	liver:	n/a	n/a
18	TCF12	chr2:36603292-36604857	SK-N-SH	brain:	n/a	chr2:36604301-36604308
19	RXRA	chr2:36603990-36604703	SK-N-SH	brain:	n/a	chr2:36604052-36604065
20	JUND	chr2:36604017-36604763	HCT-116	colon:	n/a	n/a
21	GATA3	chr2:36603110-36604846	A549	lung:	n/a	n/a
22	POLR2A	chr2:36602824-36605829	A549	lung:	n/a	n/a
23	FOSL1	chr2:36604052-36604703	HCT-116	colon:	n/a	n/a
24	POLR2A	chr2:36603263-36605324	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr2:36602709-36605505	HUVEC	blood vessel:	n/a	n/a
26	FOSL2	chr2:36603143-36604919	A549	lung:	n/a	n/a
27	TCF12	chr2:36603239-36604863	SK-N-SH	brain:	n/a	chr2:36604301-36604308
28	POLR2A	chr2:36602908-36605846	HUVEC	blood vessel:	n/a	n/a
29	CBX3	chr2:36604004-36604715	HCT-116	colon:	n/a	n/a
30	EP300	chr2:36603235-36604725	A549	lung:	n/a	chr2:36603893-36603907
31	JUND	chr2:36604017-36604758	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36586071..36588141-chr2:36602497..36605299,2	MCF-7	breast:
2	chr2:36596157..36599052-chr2:36601566..36604769,3	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10167894	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178804	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192912	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198159	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11885395	1.00[ASN][1000 genomes]
rs11898050	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480064	1.00[ASN][1000 genomes]
rs4670144	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4670545	1.00[ASN][1000 genomes]
rs4670547	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653640	1.00[ASN][1000 genomes]
rs9308991	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308992	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997602	1.00[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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:36598600-36607000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:36599400-36609600	Enhancers	HMEC	breast
7	chr2:36599800-36605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:36600000-36607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:36600000-36609000	Genic enhancers	HSMM	muscle
10	chr2:36600400-36612000	Genic enhancers	Osteobl	bone
11	chr2:36600600-36608800	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr2:36600800-36607200	Weak transcription	Pancreas	Pancrea
13	chr2:36601000-36605400	Weak transcription	Aorta	Aorta
14	chr2:36601200-36605600	Enhancers	NHDF-Ad	bronchial
15	chr2:36601400-36604800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:36602200-36604800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:36602400-36605000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:36602600-36605400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:36602800-36604800	Enhancers	Fetal Intestine Large	intestine
20	chr2:36602800-36604800	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:36602800-36605000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:36603000-36605200	Enhancers	Stomach Mucosa	stomach
23	chr2:36603200-36604800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:36603200-36605400	Enhancers	Small Intestine	intestine
25	chr2:36603200-36605400	Transcr. at gene 5' and 3'	A549	lung
26	chr2:36603200-36607400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:36603400-36604800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:36603400-36604800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:36603400-36604800	Enhancers	Colonic Mucosa	Colon
30	chr2:36603400-36605800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:36603400-36606200	Enhancers	Psoas Muscle	Psoas
32	chr2:36603600-36604800	Enhancers	Lung	lung
33	chr2:36603800-36605000	Enhancers	Brain Anterior Caudate	brain
34	chr2:36603800-36607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:36603800-36607600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:36603800-36612600	Weak transcription	Fetal Brain Female	brain
37	chr2:36604000-36604800	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:36604000-36605600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:36604000-36605600	Genic enhancers	NHLF	lung
40	chr2:36604000-36606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:36604000-36606600	Enhancers	Fetal Heart	heart
44	chr2:36604000-36614400	Genic enhancers	HUVEC	blood vessel
45	chr2:36604000-36617000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:36604200-36605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:36604200-36605000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:36604200-36605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:36604200-36605600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:36604200-36605600	Enhancers	HUES6 Cell Line	embryonic stem cell

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