Variant report

Variant	rs907485
Chromosome Location	chr12:122765554-122765555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122759362..122761887-chr12:122763951..122766011,2	MCF-7	breast:
2	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000139719	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11057290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11834748	1.00[CHB][hapmap]
rs11836373	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11837919	1.00[CHB][hapmap]
rs12321299	1.00[CHB][hapmap]
rs12580043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	1.00[ASW][hapmap];0.82[GIH][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954369	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954374	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954381	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.93[EUR][1000 genomes]
rs61955588	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955589	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7132789	0.91[EUR][1000 genomes]
rs7303975	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7315448	1.00[CHB][hapmap]
rs7953290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.88[EUR][1000 genomes];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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
4	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:122752200-122766800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122755400-122765800	Strong transcription	Adipose Nuclei	Adipose
10	chr12:122755800-122768200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122756000-122766200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:122756200-122766800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:122756600-122766000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:122757200-122766200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:122759000-122766600	Weak transcription	HMEC	breast
17	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
18	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
19	chr12:122760400-122766000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:122760400-122766200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:122760400-122774800	Strong transcription	Liver	Liver
22	chr12:122760800-122765800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:122760800-122765800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:122760800-122766000	Strong transcription	Primary T cells from cord blood	blood
25	chr12:122760800-122766000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:122761000-122766200	Strong transcription	Brain Germinal Matrix	brain
27	chr12:122761400-122765800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122761600-122766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:122761600-122766800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:122761800-122766400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:122762000-122765800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:122762200-122765600	Strong transcription	A549	lung
33	chr12:122762200-122765800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:122762400-122766000	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr12:122762600-122765600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:122762600-122766200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122762800-122765600	Strong transcription	NHEK	skin
38	chr12:122762800-122766600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:122762800-122766800	Strong transcription	Lung	lung
40	chr12:122763600-122765800	Weak transcription	Fetal Stomach	stomach
41	chr12:122763600-122765800	Weak transcription	Left Ventricle	heart
42	chr12:122763600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:122763600-122766600	Weak transcription	Fetal Intestine Large	intestine
44	chr12:122763600-122770200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:122763600-122770200	Weak transcription	Fetal Thymus	thymus
46	chr12:122763600-122770200	Weak transcription	Ovary	ovary
47	chr12:122763600-122770400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122763600-122770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:122763600-122770400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:122763600-122770600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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