Variant report

Variant	rs3808090
Chromosome Location	chr7:127516546-127516547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127515197..127517190-chr7:127518655..127520220,2	K562	blood:
2	chr7:127514885..127517245-chr7:127526178..127528384,2	MCF-7	breast:
3	chr7:127512043..127515150-chr7:127515300..127517593,3	MCF-7	breast:
4	chr7:127514549..127522691-chr7:127524662..127530854,11	K562	blood:
5	chr7:127516327..127519323-chr7:127525102..127528935,4	K562	blood:
6	chr7:127439262..127442227-chr7:127516477..127518829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10487496	0.94[AMR][1000 genomes]
rs13235596	0.94[AMR][1000 genomes]
rs13240628	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs17660187	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17662800	0.94[AMR][1000 genomes]
rs17663644	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17718364	0.94[AMR][1000 genomes]
rs17730185	0.94[AMR][1000 genomes]
rs17730294	0.94[AMR][1000 genomes]
rs17733783	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2272374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs34188289	0.84[AMR][1000 genomes]
rs34209480	0.82[EUR][1000 genomes]
rs34250605	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34844752	0.94[AMR][1000 genomes]
rs34874680	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34980225	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35120956	0.84[AMR][1000 genomes]
rs35246122	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35307919	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35421080	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35521470	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35585856	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35602492	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs35640048	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35872516	0.84[AMR][1000 genomes]
rs36043097	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36046498	0.94[AMR][1000 genomes]
rs3757762	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3757785	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs3808096	0.84[AMR][1000 genomes]
rs3808111	0.84[AMR][1000 genomes]
rs3808115	0.84[AMR][1000 genomes]
rs58341788	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58451280	0.84[AMR][1000 genomes]
rs62481380	0.84[AMR][1000 genomes]
rs62481384	0.94[AMR][1000 genomes]
rs62481393	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481453	0.82[EUR][1000 genomes]
rs6948752	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs737242	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7788592	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7808161	0.94[AMR][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	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
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
3	chr7:127491400-127527800	Weak transcription	Liver	Liver
4	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:127498800-127524600	Weak transcription	Gastric	stomach
9	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
10	chr7:127500200-127521800	Weak transcription	Pancreas	Pancrea
11	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:127500400-127527800	Weak transcription	Dnd41	blood
14	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:127500600-127517400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
18	chr7:127503000-127524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:127503400-127517600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:127504600-127522000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:127505600-127525200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:127505600-127528400	Weak transcription	Hela-S3	cervix
24	chr7:127505800-127518200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
26	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:127507000-127525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:127507200-127517400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:127507400-127524600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:127509000-127516800	Weak transcription	Primary B cells from cord blood	blood
31	chr7:127509400-127521800	Weak transcription	Left Ventricle	heart
32	chr7:127509400-127521800	Weak transcription	Right Atrium	heart
33	chr7:127512000-127517200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:127512200-127525000	Weak transcription	Fetal Heart	heart
35	chr7:127512600-127528000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:127513200-127519800	Enhancers	NHDF-Ad	bronchial
37	chr7:127513800-127517000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:127514000-127517800	Enhancers	Osteobl	bone
39	chr7:127514000-127519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:127514200-127521800	Weak transcription	Brain Angular Gyrus	brain
41	chr7:127514200-127521800	Weak transcription	Psoas Muscle	Psoas
42	chr7:127514200-127522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:127514400-127518200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127514400-127519200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:127514400-127524600	Weak transcription	HepG2	liver
46	chr7:127514600-127519200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:127514800-127517600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:127515000-127517000	Enhancers	HSMMtube	muscle
50	chr7:127515200-127516600	Enhancers	Sigmoid Colon	Sigmoid Colon

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