Variant report

Variant	rs7132180
Chromosome Location	chr12:49159610-49159611
allele	A/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	RUNX3	chr12:49159605-49160120	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:49159583-49160091	GM12878	blood:	n/a	n/a
3	CTCF	chr12:49159600-49159750	GM12873	blood:	n/a	n/a
4	CTCF	chr12:49159500-49159650	HBMEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:49159589-49159851	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257653	TF binding region
ENSG00000174233	Chromatin interaction
ENSG00000257660	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11168732	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11168733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes]
rs11168740	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11168742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap]
rs12303625	0.80[CEU][hapmap]
rs12306165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes]
rs12307769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317021	0.80[CEU][hapmap]
rs28433152	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454807	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28889716	0.83[ASN][1000 genomes]
rs34863395	0.86[ASN][1000 genomes]
rs35765758	0.86[ASN][1000 genomes]
rs3729969	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3729980	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3730069	1.00[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs3730070	1.00[CHB][hapmap]
rs3730072	1.00[CHB][hapmap]
rs3730074	1.00[CHB][hapmap]
rs7300155	1.00[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7961282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975385	1.00[CHD][hapmap]
rs9668292	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9804777	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49134600-49161800	Weak transcription	A549	lung
2	chr12:49150600-49160200	Weak transcription	Right Atrium	heart
3	chr12:49152800-49161600	Weak transcription	Aorta	Aorta
4	chr12:49153000-49160200	Weak transcription	Fetal Lung	lung
5	chr12:49156800-49164400	Weak transcription	Fetal Kidney	kidney
6	chr12:49157000-49160400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:49157000-49161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:49157000-49161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:49157000-49164400	Weak transcription	HUVEC	blood vessel
10	chr12:49157200-49160600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:49157400-49160800	Weak transcription	HepG2	liver
12	chr12:49157600-49161600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:49157800-49161800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:49158000-49160200	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:49158200-49159800	Strong transcription	Adipose Nuclei	Adipose
16	chr12:49158200-49160000	Strong transcription	Right Ventricle	heart
17	chr12:49158200-49160800	Enhancers	GM12878-XiMat	blood
18	chr12:49158200-49162000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:49158400-49159800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:49158400-49160600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:49158400-49160600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:49158400-49161000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:49158400-49161200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:49158400-49161400	Enhancers	Ovary	ovary
25	chr12:49158400-49161400	Genic enhancers	NHLF	lung
26	chr12:49158400-49162200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:49158400-49162200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:49158400-49162400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:49158400-49163400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:49158400-49172400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:49158400-49173200	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:49158400-49173200	Strong transcription	Fetal Stomach	stomach
33	chr12:49158400-49173400	Strong transcription	Fetal Intestine Small	intestine
34	chr12:49158400-49173600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:49158400-49177800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:49158600-49160000	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:49158600-49160000	Strong transcription	Left Ventricle	heart
38	chr12:49158600-49161200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:49158600-49161400	Enhancers	NHDF-Ad	bronchial
40	chr12:49158600-49161600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:49158600-49163000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:49158600-49163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:49158600-49164600	Weak transcription	NHEK	skin
44	chr12:49158600-49172400	Strong transcription	Fetal Intestine Large	intestine
45	chr12:49158800-49159800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:49158800-49160400	Weak transcription	Brain Substantia Nigra	brain
47	chr12:49158800-49161000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:49158800-49161000	Weak transcription	Hela-S3	cervix
49	chr12:49158800-49161600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:49158800-49161600	Weak transcription	Esophagus	oesophagus

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