Variant report

Variant	rs7514937
Chromosome Location	chr1:77981099-77981100
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77970720..77974460-chr1:77976825..77981208,5	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10782651	0.85[CHB][hapmap]
rs10873944	0.96[ASN][1000 genomes]
rs10873945	0.96[ASN][1000 genomes]
rs10873947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11162356	0.96[ASN][1000 genomes]
rs11162357	0.96[ASN][1000 genomes]
rs12093263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12133202	0.96[ASN][1000 genomes]
rs2133203	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2133204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647503	0.85[CHB][hapmap]
rs2803152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2803155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs34140909	0.93[ASN][1000 genomes]
rs34855794	0.96[ASN][1000 genomes]
rs6603950	0.86[CHB][hapmap]
rs6603951	0.90[ASN][1000 genomes]
rs6697255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7514041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7542588	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77969600-77981600	Enhancers	HUVEC	blood vessel
2	chr1:77973600-77983400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:77974600-77982200	Enhancers	NHDF-Ad	bronchial
4	chr1:77978600-77981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:77978800-77981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:77978800-77981600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77978800-77981800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:77978800-77982000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:77978800-77982400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:77978800-77983000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:77979000-77981400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:77979000-77981800	Enhancers	Osteobl	bone
13	chr1:77979200-77983000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:77979200-77984000	Weak transcription	Primary T cells from cord blood	blood
15	chr1:77979400-77981200	Enhancers	NHEK	skin
16	chr1:77979400-77981400	Enhancers	HMEC	breast
17	chr1:77979400-77981600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:77979400-77981600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:77979400-77981600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:77979400-77981600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:77979400-77981600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:77979400-77981600	Enhancers	Placenta	Placenta
23	chr1:77979400-77982000	Enhancers	Brain Angular Gyrus	brain
24	chr1:77979400-77982400	Enhancers	Fetal Muscle Leg	muscle
25	chr1:77979600-77981200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:77979600-77981200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:77979600-77981200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:77979600-77981200	Enhancers	Hela-S3	cervix
29	chr1:77979600-77981400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:77979600-77981400	Enhancers	Fetal Lung	lung
31	chr1:77979600-77981600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:77979600-77981800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:77979600-77981800	Enhancers	Adipose Nuclei	Adipose
34	chr1:77979600-77981800	Enhancers	Fetal Stomach	stomach
35	chr1:77979800-77981400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:77979800-77981400	Enhancers	Fetal Kidney	kidney
37	chr1:77979800-77981400	Enhancers	A549	lung
38	chr1:77979800-77982000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:77980000-77981400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:77980200-77981800	Enhancers	Fetal Heart	heart
41	chr1:77980400-77981200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:77980400-77981200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr1:77980400-77981400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr1:77980400-77981600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:77980400-77981600	Enhancers	Ovary	ovary
46	chr1:77980400-77981800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:77980400-77981800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:77980400-77981800	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:77980600-77981400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr1:77980600-77981400	Bivalent Enhancer	Fetal Intestine Large	intestine

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