Variant report

Variant	rs35307919
Chromosome Location	chr7:127461428-127461429
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	chr7:127457487..127459483-chr7:127460285..127462225,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10487496	1.00[AMR][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes]
rs17660187	0.89[ASN][1000 genomes]
rs17662800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17663644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17730185	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17733783	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272374	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34188289	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34250605	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34980225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120956	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521470	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35602492	0.89[ASN][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35872516	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3757762	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757785	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3779525	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808062	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3808111	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3808115	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58341788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58451280	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62481380	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62481393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62481453	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6948752	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746238	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
3	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127449600-127472600	Weak transcription	Lung	lung
5	chr7:127449800-127469200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:127450800-127471200	Weak transcription	Dnd41	blood
7	chr7:127452800-127462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:127453800-127463000	Weak transcription	Spleen	Spleen
9	chr7:127454600-127463000	Weak transcription	Ovary	ovary
10	chr7:127456400-127469000	Weak transcription	Left Ventricle	heart
11	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
12	chr7:127456600-127469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:127457000-127463000	Weak transcription	Pancreas	Pancrea
14	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:127457000-127497800	Weak transcription	Gastric	stomach
16	chr7:127458400-127461600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:127458600-127461800	Enhancers	HepG2	liver
18	chr7:127459200-127461600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:127459600-127461600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr7:127459600-127463400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:127459600-127463400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:127459800-127461600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:127459800-127461600	Enhancers	NHDF-Ad	bronchial
24	chr7:127460000-127461600	Genic enhancers	K562	blood
25	chr7:127460000-127463000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:127460200-127461600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:127460200-127461600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:127460200-127463600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:127460400-127461600	Enhancers	HUVEC	blood vessel
30	chr7:127460600-127461600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:127460600-127462800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:127460600-127463000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:127460600-127464600	Weak transcription	A549	lung
34	chr7:127460800-127461600	Enhancers	Liver	Liver
35	chr7:127460800-127462400	Weak transcription	Primary B cells from cord blood	blood
36	chr7:127460800-127462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:127460800-127472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:127461000-127461600	Genic enhancers	GM12878-XiMat	blood
40	chr7:127461000-127462600	Weak transcription	HMEC	breast
41	chr7:127461000-127462800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:127461000-127463000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:127461000-127463000	Weak transcription	Fetal Intestine Large	intestine
44	chr7:127461000-127469200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
48	chr7:127461200-127461600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:127461200-127462200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:127461200-127462400	Weak transcription	Adipose Nuclei	Adipose

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