Variant report

Variant	rs62481385
Chromosome Location	chr7:127410711-127410712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127390841..127392796-chr7:127409472..127412228,2	K562	blood:
2	chr7:127410218..127412934-chr7:127422329..127425135,2	MCF-7	breast:
3	chr7:127402917..127404639-chr7:127409550..127411362,2	K562	blood:
4	chr7:127297314..127299232-chr7:127410523..127413406,2	K562	blood:
5	chr7:127401749..127405329-chr7:127409862..127412962,3	K562	blood:
6	chr7:127405359..127407780-chr7:127410087..127411975,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10954164	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11768841	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11772303	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12539411	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12540484	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667197	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668077	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12672945	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12673293	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419967	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16871926	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17151229	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17151377	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17151470	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2058457	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402871	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757778	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757780	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808078	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3808086	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808088	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3824003	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4728079	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4731377	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185520	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58106688	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59140894	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481416	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481419	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481443	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481447	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62481450	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67338333	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698408	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs712707	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs712715	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712718	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712719	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765971	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs806166	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806169	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806172	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806174	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806188	0.80[ASN][1000 genomes]
rs882694	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9791922	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	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	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1793220	chr7:127400473-127413555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
4	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
5	chr7:127392200-127411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
7	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:127401000-127411000	Weak transcription	Gastric	stomach
11	chr7:127401000-127411000	Weak transcription	Pancreas	Pancrea
12	chr7:127401000-127422000	Weak transcription	Small Intestine	intestine
13	chr7:127401000-127422400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:127401000-127427000	Weak transcription	HepG2	liver
15	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
16	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
17	chr7:127402800-127422200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:127405400-127412400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:127407000-127411200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:127407000-127411600	Enhancers	HSMM	muscle
22	chr7:127407000-127411600	Enhancers	Osteobl	bone
23	chr7:127407400-127411000	Weak transcription	K562	blood
24	chr7:127407400-127411600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:127407400-127419800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:127407400-127420200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
28	chr7:127407400-127447600	Weak transcription	Dnd41	blood
29	chr7:127407600-127411000	Weak transcription	GM12878-XiMat	blood
30	chr7:127407600-127411200	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:127407600-127412200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:127407600-127415600	Weak transcription	NHEK	skin
33	chr7:127407600-127422000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:127408000-127411400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:127408000-127411400	Enhancers	NH-A	brain
37	chr7:127408000-127418600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:127408000-127421800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:127408200-127419600	Weak transcription	Esophagus	oesophagus
42	chr7:127408200-127422200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:127408400-127411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:127408600-127418000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:127408600-127418600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:127408600-127418600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:127408600-127419000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:127408600-127422200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:127408800-127411400	Enhancers	Cortex derived primary cultured neurospheres	brain

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