Variant report

Variant	rs712718
Chromosome Location	chr7:127346950-127346951
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127346393..127350430-chr7:127351346..127355414,4	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10954164	0.83[ASN][1000 genomes]
rs11768841	0.80[AMR][1000 genomes]
rs11772303	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539411	0.86[AMR][1000 genomes]
rs12540484	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12667197	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12668077	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12673293	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1419967	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1419968	0.83[JPT][hapmap]
rs16871926	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17151229	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151377	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17151470	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2058457	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2402871	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582717	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs327510	0.85[CHB][hapmap]
rs327512	0.81[CHB][hapmap]
rs327516	0.81[CHB][hapmap]
rs3757778	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3757780	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808078	0.81[AMR][1000 genomes]
rs3808086	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3808088	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3824003	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4728079	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4731377	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56185520	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58106688	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59140894	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481385	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481416	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62481419	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62481443	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62481447	0.84[AMR][1000 genomes]
rs62481450	0.81[AMR][1000 genomes]
rs67338333	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs698406	0.86[CHB][hapmap]
rs698408	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712697	0.85[CHB][hapmap]
rs712700	0.90[CHB][hapmap]
rs712701	0.90[CHB][hapmap]
rs712703	0.90[CHB][hapmap]
rs712704	0.90[CHB][hapmap]
rs712707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712715	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs712719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs765971	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs806166	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806169	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806174	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs806175	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs806180	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs806188	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs806193	0.87[CHB][hapmap]
rs882694	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9791922	0.81[AMR][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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127324400-127349000	Strong transcription	K562	blood
2	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
3	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
4	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
5	chr7:127325600-127347200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:127325800-127350200	Strong transcription	HepG2	liver
8	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:127326200-127350600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127326400-127347000	Strong transcription	Osteobl	bone
13	chr7:127326400-127347200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:127326400-127349200	Strong transcription	Dnd41	blood
15	chr7:127326400-127350200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:127326400-127350800	Strong transcription	Primary B cells from cord blood	blood
17	chr7:127326400-127350800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:127326400-127351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:127326400-127351800	Strong transcription	Placenta	Placenta
20	chr7:127326400-127352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:127326400-127356600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:127326600-127347200	Strong transcription	NH-A	brain
23	chr7:127326600-127351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:127326600-127355200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:127327000-127355200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:127330000-127347000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:127330000-127355600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:127331000-127350600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
32	chr7:127332600-127351000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:127333200-127351000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:127333400-127351800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:127333600-127350800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:127333800-127347400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:127333800-127351800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:127333800-127354200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:127334200-127350800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:127334200-127351000	Strong transcription	Liver	Liver
41	chr7:127334200-127351600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
43	chr7:127334600-127348800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:127334600-127350800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:127334600-127350800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:127334600-127351000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:127334600-127354400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:127335000-127347400	Strong transcription	Adipose Nuclei	Adipose
49	chr7:127335000-127351200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr7:127335000-127359400	Strong transcription	Hela-S3	cervix

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