Variant report

Variant	rs6462988
Chromosome Location	chr7:40757018-40757019
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
2	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10251707	1.00[CHB][hapmap]
rs11760535	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11761250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11761336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11763592	1.00[CHB][hapmap]
rs11768774	1.00[CHB][hapmap]
rs11772576	1.00[CHB][hapmap]
rs12155334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17171734	1.00[CHB][hapmap]
rs17437429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17438052	1.00[CHB][hapmap]
rs17528214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17528582	1.00[CHB][hapmap]
rs2329818	1.00[CHB][hapmap]
rs34523428	1.00[CHB][hapmap]
rs3919491	1.00[CHB][hapmap]
rs4119077	1.00[CHB][hapmap]
rs4119078	1.00[CHB][hapmap]
rs4720370	1.00[CHB][hapmap]
rs67777497	0.84[ASN][1000 genomes]
rs6956181	1.00[CHB][hapmap]
rs6977432	0.84[ASN][1000 genomes]
rs6977963	1.00[CHB][hapmap]
rs73124030	0.84[ASN][1000 genomes]
rs7779570	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7800409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7812176	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40753800-40758200	Enhancers	Osteobl	bone
2	chr7:40754000-40757800	Enhancers	HSMM	muscle
3	chr7:40754000-40758200	Enhancers	NHDF-Ad	bronchial
4	chr7:40754200-40757400	Enhancers	HMEC	breast
5	chr7:40754600-40757200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:40755000-40757400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:40755400-40757400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:40755400-40757400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:40755400-40757400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:40755400-40757400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:40755400-40757400	Enhancers	Hela-S3	cervix
12	chr7:40755400-40757600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:40755400-40757800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:40755400-40758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:40755400-40758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:40755800-40757400	Enhancers	HUVEC	blood vessel
17	chr7:40755800-40758600	Weak transcription	Aorta	Aorta
18	chr7:40755800-40759800	Weak transcription	NH-A	brain
19	chr7:40755800-40760200	Weak transcription	Fetal Heart	heart
20	chr7:40756000-40759600	Weak transcription	Liver	Liver
21	chr7:40756400-40758200	Enhancers	Dnd41	blood
22	chr7:40756600-40757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:40756600-40757200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:40756600-40757200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr7:40756600-40757200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:40756600-40757200	Enhancers	Stomach Mucosa	stomach
27	chr7:40756600-40757200	Enhancers	HepG2	liver
28	chr7:40756600-40757400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:40756600-40757400	Enhancers	Ovary	ovary
30	chr7:40756600-40757400	Enhancers	HSMMtube	muscle
31	chr7:40756800-40757200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:40756800-40757200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:40756800-40757200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:40756800-40757200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:40756800-40757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:40756800-40757200	Enhancers	Placenta	Placenta
37	chr7:40756800-40757200	Enhancers	Right Atrium	heart
38	chr7:40756800-40757400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:40756800-40757400	Flanking Active TSS	A549	lung
40	chr7:40757000-40757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:40757000-40757200	Enhancers	Psoas Muscle	Psoas
42	chr7:40757000-40757200	Enhancers	Right Ventricle	heart
43	chr7:40757000-40757400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:40757000-40757400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:40757000-40757400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:40757000-40757400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:40757000-40757400	Enhancers	NHEK	skin
48	chr7:40757000-40757400	Enhancers	NHLF	lung
49	chr7:40757000-40758200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:40757000-40758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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