Variant report

Variant	rs7516500
Chromosome Location	chr1:95663472-95663473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10458507	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10747465	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10783000	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12098237	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1336438	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1998967	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs259358	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs4301674	0.80[AFR][1000 genomes]
rs59828565	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs613351	1.00[AMR][1000 genomes]
rs6593614	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593615	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593619	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659370	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7366061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532269	1.00[YRI][hapmap]
rs7540042	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95634400-95673200	Weak transcription	Gastric	stomach
2	chr1:95634800-95663800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:95638200-95665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:95650200-95665400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:95651200-95663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:95658000-95664000	Enhancers	Fetal Heart	heart
7	chr1:95661200-95663800	Enhancers	HSMMtube	muscle
8	chr1:95661600-95664000	Weak transcription	Right Ventricle	heart
9	chr1:95661600-95669600	Weak transcription	K562	blood
10	chr1:95662000-95663600	Weak transcription	Psoas Muscle	Psoas
11	chr1:95662400-95665000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:95662800-95663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:95662800-95664200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:95662800-95664200	Enhancers	HSMM	muscle
15	chr1:95663000-95663600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:95663000-95663600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:95663000-95664200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:95663000-95664400	Enhancers	HMEC	breast
19	chr1:95663200-95663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:95663200-95663800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:95663200-95663800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:95663200-95663800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:95663200-95664000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:95663200-95664000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:95663200-95664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:95663200-95664200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:95663200-95664200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:95663200-95664200	Enhancers	Fetal Muscle Leg	muscle
29	chr1:95663200-95664200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:95663200-95664200	Enhancers	NHEK	skin
31	chr1:95663400-95663600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:95663400-95663600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:95663400-95663600	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:95663400-95663600	Enhancers	Colon Smooth Muscle	Colon
35	chr1:95663400-95663600	Enhancers	Left Ventricle	heart
36	chr1:95663400-95663600	Active TSS	Right Atrium	heart
37	chr1:95663400-95663800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:95663400-95663800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:95663400-95663800	Enhancers	Fetal Lung	lung
40	chr1:95663400-95663800	Enhancers	Pancreas	Pancrea
41	chr1:95663400-95663800	Enhancers	A549	lung
42	chr1:95663400-95664000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:95663400-95664000	Strong transcription	Liver	Liver
44	chr1:95663400-95664000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:95663400-95664000	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:95663400-95664200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:95663400-95664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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