Variant report

Variant	rs6464127
Chromosome Location	chr7:150789556-150789557
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	chr7:150788678..150791620-chr7:150838692..150841148,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10227172	0.81[EUR][1000 genomes]
rs10270107	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10271154	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1050734	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11765015	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11765200	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239507	0.95[CEU][hapmap]
rs2069443	0.81[CEU][hapmap]
rs2303929	0.81[CEU][hapmap]
rs28667841	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4725388	0.95[CEU][hapmap]
rs4725990	0.84[EUR][1000 genomes]
rs57564091	0.82[AMR][1000 genomes]
rs6464124	0.81[EUR][1000 genomes]
rs6464126	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs6464128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945151	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749319	0.82[EUR][1000 genomes]
rs7798453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150785800-150789600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:150786600-150792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:150786800-150789600	Genic enhancers	Fetal Muscle Trunk	muscle
6	chr7:150786800-150789800	Enhancers	Brain Angular Gyrus	brain
7	chr7:150786800-150789800	Enhancers	Fetal Brain Male	brain
8	chr7:150786800-150799000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:150787000-150791400	Strong transcription	Hela-S3	cervix
10	chr7:150787000-150791600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:150787000-150796600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:150787000-150799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:150787200-150789600	Genic enhancers	Fetal Muscle Leg	muscle
14	chr7:150787200-150790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:150787200-150790000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:150787200-150790200	Enhancers	Colon Smooth Muscle	Colon
17	chr7:150787200-150790400	Weak transcription	NHEK	skin
18	chr7:150787200-150791000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:150787200-150791000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:150787200-150791200	Weak transcription	NHDF-Ad	bronchial
21	chr7:150787200-150791800	Weak transcription	Esophagus	oesophagus
22	chr7:150787200-150792600	Enhancers	Adipose Nuclei	Adipose
23	chr7:150787200-150793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:150787200-150793000	Weak transcription	HSMMtube	muscle
25	chr7:150787200-150793200	Weak transcription	Psoas Muscle	Psoas
26	chr7:150787200-150800600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:150787200-150801400	Weak transcription	NH-A	brain
28	chr7:150787400-150789600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:150787400-150789600	Enhancers	Brain Hippocampus Middle	brain
30	chr7:150787400-150792200	Weak transcription	HMEC	breast
31	chr7:150787400-150800000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:150787400-150807800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:150787600-150789800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:150787600-150791200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:150787800-150792200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:150787800-150792400	Weak transcription	Ovary	ovary
37	chr7:150787800-150800000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:150787800-150801800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:150787800-150801800	Weak transcription	NHLF	lung
40	chr7:150788200-150790000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:150788200-150790400	Genic enhancers	Brain Germinal Matrix	brain
42	chr7:150788400-150789800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:150788400-150790000	Strong transcription	Osteobl	bone
44	chr7:150788400-150790200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:150788400-150790400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:150788400-150800600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:150788600-150789600	Genic enhancers	Brain Cingulate Gyrus	brain
48	chr7:150788600-150789800	Enhancers	Left Ventricle	heart
49	chr7:150788600-150791000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:150788600-150791400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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