Variant report

Variant	rs1419967
Chromosome Location	chr7:127474435-127474436
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127473878..127476646-chr7:127477198..127480540,3	K562	blood:
2	chr7:127472811..127474462-chr7:127480282..127483012,2	MCF-7	breast:
3	chr7:127473878..127476756-chr7:127477234..127480540,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1024910	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10954164	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11768841	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11772303	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1193333	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1193335	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12539411	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540484	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12667197	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12668077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672945	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673293	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1345509	0.87[JPT][hapmap]
rs1419968	0.81[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs16871926	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17151229	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151377	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17151470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058457	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241291	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2402871	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2543477	0.81[EUR][1000 genomes]
rs2582717	1.00[CHB][hapmap]
rs3757760	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3757763	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3757771	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3757778	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757780	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779526	0.87[JPT][hapmap]
rs3779527	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3808077	0.94[JPT][hapmap]
rs3808078	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808086	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823995	0.87[JPT][hapmap]
rs3824003	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728079	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731377	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56185520	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58106688	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59140894	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481385	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481416	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481419	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481443	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481447	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481450	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6467155	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6467156	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67338333	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6944446	0.81[JPT][hapmap]
rs6973092	0.87[JPT][hapmap]
rs698408	0.82[ASN][1000 genomes]
rs712707	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs712715	0.83[ASN][1000 genomes]
rs712718	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs712719	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765971	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7789322	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs806166	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs806169	0.81[ASN][1000 genomes]
rs806172	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs806174	0.85[AMR][1000 genomes]
rs806175	0.95[CHB][hapmap]
rs806180	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs882694	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791922	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
2	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
4	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:127457000-127497800	Weak transcription	Gastric	stomach
6	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
10	chr7:127461400-127474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:127461400-127476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:127461400-127476800	Weak transcription	HSMM	muscle
13	chr7:127461400-127477000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:127461400-127477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:127461400-127477200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:127461400-127477400	Weak transcription	NH-A	brain
17	chr7:127461400-127477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
19	chr7:127463200-127477200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:127463400-127476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:127463400-127477600	Weak transcription	Fetal Intestine Small	intestine
22	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
23	chr7:127463600-127477600	Weak transcription	HMEC	breast
24	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
25	chr7:127463800-127474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:127463800-127475600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:127463800-127477200	Weak transcription	NHEK	skin
28	chr7:127464000-127474600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:127465000-127483200	Weak transcription	HepG2	liver
30	chr7:127469400-127476000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:127469400-127488800	Weak transcription	Thymus	Thymus
32	chr7:127469800-127477200	Weak transcription	Primary B cells from cord blood	blood
33	chr7:127470000-127475800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:127470200-127484400	Weak transcription	Fetal Heart	heart
35	chr7:127471000-127474600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr7:127471400-127475600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:127471800-127474800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:127471800-127477200	Weak transcription	Fetal Kidney	kidney
39	chr7:127471800-127478000	Weak transcription	Right Ventricle	heart
40	chr7:127471800-127484200	Weak transcription	Left Ventricle	heart
41	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:127472200-127484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:127472600-127476600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:127472600-127477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:127472800-127476000	Weak transcription	Dnd41	blood
46	chr7:127472800-127477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:127472800-127483800	Weak transcription	Brain Substantia Nigra	brain
48	chr7:127473000-127475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:127473000-127476000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:127473200-127474800	Enhancers	HUVEC	blood vessel

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