Variant report

Variant	rs3808062
Chromosome Location	chr7:127646289-127646290
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127645172..127647796-chr7:127651535..127653473,2	MCF-7	breast:
2	chr7:127645347..127648256-chr7:127660834..127662429,2	MCF-7	breast:
3	chr7:127641392..127644240-chr7:127644779..127647605,2	MCF-7	breast:
4	chr7:127646218..127648423-chr7:127655785..127658353,2	K562	blood:
5	chr7:127645845..127647597-chr7:127674557..127676865,2	K562	blood:
6	chr7:127643116..127647921-chr7:127647967..127652468,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12706824	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13223326	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13232846	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13238717	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13240628	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17662800	0.86[ASN][1000 genomes]
rs17663644	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730185	0.86[ASN][1000 genomes]
rs17730294	0.86[ASN][1000 genomes]
rs17733783	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34209480	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34250605	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34393727	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34844752	0.86[ASN][1000 genomes]
rs34874680	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34980225	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35013916	0.82[EUR][1000 genomes]
rs35246122	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35584770	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35585856	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35602492	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35640048	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36043097	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	0.86[ASN][1000 genomes]
rs3757762	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779525	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808090	1.00[CEU][hapmap]
rs58341788	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	0.86[ASN][1000 genomes]
rs62481393	0.80[EUR][1000 genomes]
rs62481453	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483978	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6948752	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737242	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:127631200-127655600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:127632600-127657600	Weak transcription	HUVEC	blood vessel
5	chr7:127634200-127657800	Weak transcription	NH-A	brain
6	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
9	chr7:127636600-127650400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:127636600-127650600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127636800-127652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:127637400-127650200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:127637600-127650600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:127637600-127651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:127637600-127652400	Weak transcription	A549	lung
17	chr7:127637800-127646400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:127637800-127650400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:127637800-127650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:127637800-127650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:127637800-127652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:127638000-127653000	Weak transcription	NHLF	lung
23	chr7:127638200-127652000	Weak transcription	HMEC	breast
24	chr7:127640800-127647400	Enhancers	Brain Substantia Nigra	brain
25	chr7:127641200-127648600	Weak transcription	Psoas Muscle	Psoas
26	chr7:127641200-127652400	Weak transcription	Esophagus	oesophagus
27	chr7:127641200-127657000	Weak transcription	Stomach Mucosa	stomach
28	chr7:127641400-127647400	Enhancers	Liver	Liver
29	chr7:127641400-127653800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:127641400-127657800	Weak transcription	Osteobl	bone
31	chr7:127641600-127647800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:127641600-127648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:127641600-127649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:127641600-127650000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:127641600-127652400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:127641600-127652600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:127641600-127652600	Weak transcription	HSMM	muscle
38	chr7:127641600-127654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:127641600-127657800	Weak transcription	HSMMtube	muscle
40	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
41	chr7:127642200-127647600	Enhancers	Pancreas	Pancrea
42	chr7:127642800-127646600	Weak transcription	NHEK	skin
43	chr7:127642800-127648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:127643000-127646600	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:127643000-127647600	Enhancers	Right Atrium	heart
46	chr7:127643000-127657200	Weak transcription	Hela-S3	cervix
47	chr7:127643400-127651800	Enhancers	Fetal Heart	heart
48	chr7:127643400-127652400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:127643800-127647200	Enhancers	Right Ventricle	heart
50	chr7:127643800-127647600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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