Variant report

Variant	rs6869762
Chromosome Location	chr5:37661388-37661389
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	chr5:37658934..37661849-chr5:37667178..37669216,3	MCF-7	breast:
2	chr5:37659630..37663695-chr5:37665450..37669812,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16903667	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs16903675	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs2222181	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4394151	1.00[AMR][1000 genomes]
rs57700562	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59565213	0.82[AFR][1000 genomes]
rs61580594	1.00[AMR][1000 genomes]
rs61748201	0.81[AFR][1000 genomes]
rs6451319	1.00[AMR][1000 genomes]
rs6451340	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863124	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs6872613	1.00[AMR][1000 genomes]
rs6897323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719190	0.81[AFR][1000 genomes]
rs7722722	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729195	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs7736605	0.88[YRI][hapmap];0.89[AFR][1000 genomes]
rs7737210	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs7737986	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs9764529	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37647000-37665400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:37648000-37666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:37654600-37671800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:37655800-37663800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:37656000-37662200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:37656600-37671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:37657200-37661600	Weak transcription	Fetal Intestine Small	intestine
8	chr5:37658600-37666000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:37658800-37661600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:37658800-37661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:37658800-37662600	Weak transcription	Osteobl	bone
12	chr5:37658800-37663000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:37658800-37665400	Weak transcription	Right Ventricle	heart
14	chr5:37658800-37665600	Weak transcription	Left Ventricle	heart
15	chr5:37658800-37667400	Weak transcription	Hela-S3	cervix
16	chr5:37659000-37661400	Weak transcription	Fetal Intestine Large	intestine
17	chr5:37659000-37662200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:37659000-37668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:37659000-37668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:37659000-37668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:37659200-37661800	Weak transcription	A549	lung
22	chr5:37659400-37665400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:37659800-37662200	Weak transcription	HepG2	liver
24	chr5:37659800-37665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:37660600-37661400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:37661200-37661600	Enhancers	Brain Substantia Nigra	brain
27	chr5:37661200-37662000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:37661200-37662000	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:37661200-37662200	Enhancers	Brain Hippocampus Middle	brain
30	chr5:37661200-37662400	Enhancers	Fetal Stomach	stomach
31	chr5:37661200-37662400	Enhancers	Ovary	ovary
32	chr5:37661200-37662600	Enhancers	Placenta Amnion	Placenta Amnion

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