Variant report

Variant	rs12530721
Chromosome Location	chr7:117370332-117370333
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	chr7:117370170..117372103-chr7:117379526..117381745,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10233110	0.82[EUR][1000 genomes]
rs10244810	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs10246649	1.00[CEU][hapmap]
rs10257581	0.91[EUR][1000 genomes]
rs10269788	1.00[MEX][hapmap]
rs1800130	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs28414508	0.82[EUR][1000 genomes]
rs28441380	0.82[EUR][1000 genomes]
rs28622152	0.82[EUR][1000 genomes]
rs34151592	0.90[EUR][1000 genomes]
rs34511745	0.90[EUR][1000 genomes]
rs34605897	0.88[EUR][1000 genomes]
rs34643488	0.88[EUR][1000 genomes]
rs34787450	0.88[EUR][1000 genomes]
rs34830562	0.90[EUR][1000 genomes]
rs35018341	0.82[EUR][1000 genomes]
rs35683365	0.88[EUR][1000 genomes]
rs36073009	0.88[EUR][1000 genomes]
rs36117041	0.90[EUR][1000 genomes]
rs6968747	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117327000-117376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:117346600-117373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:117349600-117385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:117350200-117373800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:117353200-117384600	Weak transcription	Ovary	ovary
6	chr7:117354600-117373800	Weak transcription	Esophagus	oesophagus
7	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:117355000-117382800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:117356800-117376000	Weak transcription	NH-A	brain
11	chr7:117357200-117374800	Weak transcription	Pancreas	Pancrea
12	chr7:117357600-117375400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:117357800-117370800	Weak transcription	Fetal Intestine Large	intestine
14	chr7:117358400-117371400	Weak transcription	Fetal Intestine Small	intestine
15	chr7:117358400-117398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:117359200-117402600	Weak transcription	Spleen	Spleen
17	chr7:117360200-117374000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:117360600-117374800	Weak transcription	Left Ventricle	heart
19	chr7:117362600-117394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:117362800-117371000	Strong transcription	Fetal Lung	lung
21	chr7:117363200-117401000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:117364000-117375400	Strong transcription	Fetal Brain Female	brain
23	chr7:117364200-117376600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:117365000-117371600	Weak transcription	Right Atrium	heart
25	chr7:117365400-117371400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:117365400-117371600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:117365400-117373400	Weak transcription	NHLF	lung
28	chr7:117365400-117380800	Weak transcription	Fetal Brain Male	brain
29	chr7:117365600-117407000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:117367000-117374000	Weak transcription	Brain Germinal Matrix	brain
31	chr7:117367000-117374000	Weak transcription	Lung	lung
32	chr7:117367000-117376200	Weak transcription	Gastric	stomach
33	chr7:117367200-117370800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:117367800-117370600	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:117367800-117371600	Enhancers	Brain Substantia Nigra	brain
36	chr7:117367800-117371800	Enhancers	Brain Hippocampus Middle	brain
37	chr7:117368000-117370600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:117368200-117371200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:117368200-117373600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:117368400-117371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:117368400-117373200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:117368400-117373800	Weak transcription	Aorta	Aorta
43	chr7:117368400-117373800	Weak transcription	Fetal Stomach	stomach
44	chr7:117368800-117372200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:117369000-117370400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:117369000-117371400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:117369000-117372000	Enhancers	Adipose Nuclei	Adipose
48	chr7:117369200-117371600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:117369400-117371200	Weak transcription	GM12878-XiMat	blood
50	chr7:117369400-117373800	Weak transcription	H9 Cell Line	embryonic stem cell

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