Variant report

Variant	rs6466624
Chromosome Location	chr7:117448230-117448231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117445818..117448330-chr7:117452040..117454903,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10226236	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10226907	1.00[JPT][hapmap]
rs10230544	1.00[JPT][hapmap]
rs10231905	1.00[JPT][hapmap]
rs10234869	1.00[JPT][hapmap]
rs10242695	1.00[JPT][hapmap]
rs10247163	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10249419	1.00[JPT][hapmap]
rs10254610	1.00[JPT][hapmap]
rs10258815	1.00[JPT][hapmap]
rs10274022	1.00[JPT][hapmap]
rs10278481	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11768272	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1468262	1.00[JPT][hapmap]
rs16870136	0.84[ASN][1000 genomes]
rs17140352	1.00[JPT][hapmap]
rs17550204	1.00[JPT][hapmap]
rs17550567	1.00[JPT][hapmap]
rs2079178	1.00[JPT][hapmap]
rs2111204	0.85[ASN][1000 genomes]
rs2189388	1.00[JPT][hapmap]
rs2193258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2402264	0.86[ASN][1000 genomes]
rs4730797	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4730798	1.00[JPT][hapmap]
rs4730799	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4730801	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs4730802	1.00[JPT][hapmap]
rs6967118	1.00[JPT][hapmap]
rs6973257	0.85[CHD][hapmap]
rs6977789	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6978213	1.00[JPT][hapmap]
rs739797	1.00[JPT][hapmap]
rs739798	1.00[JPT][hapmap]
rs7779353	1.00[JPT][hapmap]
rs7796168	1.00[JPT][hapmap]
rs7796211	1.00[JPT][hapmap]
rs7804816	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7806235	0.93[ASN][1000 genomes]
rs929668	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
3	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
4	chr7:117432600-117448800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
6	chr7:117437400-117456200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:117444000-117448400	Weak transcription	NHLF	lung
8	chr7:117444400-117451600	Enhancers	Fetal Heart	heart
9	chr7:117445000-117450800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:117445400-117448400	Enhancers	Brain Anterior Caudate	brain
11	chr7:117445600-117450200	Weak transcription	Pancreas	Pancrea
12	chr7:117446200-117451000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:117446400-117448400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:117447400-117449000	Enhancers	Fetal Brain Female	brain
15	chr7:117447400-117449200	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:117447400-117449800	Enhancers	Brain Substantia Nigra	brain
17	chr7:117447400-117450000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:117447600-117448400	Weak transcription	HMEC	breast
19	chr7:117447600-117448600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:117447600-117448600	Enhancers	Liver	Liver
21	chr7:117447600-117448600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:117447600-117448600	Enhancers	Left Ventricle	heart
23	chr7:117447600-117449600	Enhancers	Adipose Nuclei	Adipose
24	chr7:117447600-117450200	Enhancers	Fetal Brain Male	brain
25	chr7:117447600-117450800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:117447600-117453400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:117447800-117448600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:117447800-117448600	Enhancers	Right Ventricle	heart
29	chr7:117447800-117448600	Enhancers	Small Intestine	intestine
30	chr7:117447800-117448800	Enhancers	Colon Smooth Muscle	Colon
31	chr7:117447800-117448800	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:117447800-117449000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:117447800-117449000	Enhancers	Stomach Mucosa	stomach
34	chr7:117447800-117449600	Enhancers	Brain Germinal Matrix	brain
35	chr7:117447800-117450000	Enhancers	Fetal Lung	lung
36	chr7:117447800-117450200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:117447800-117450400	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:117447800-117451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:117448000-117448400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:117448000-117448400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:117448000-117448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:117448000-117448400	Weak transcription	Esophagus	oesophagus
43	chr7:117448000-117449200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:117448000-117449600	Enhancers	Brain Angular Gyrus	brain
45	chr7:117448000-117450400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:117448000-117450400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:117448000-117453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:117448200-117448400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr7:117448200-117448600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr7:117448200-117448600	Enhancers	Rectal Smooth Muscle	rectum

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