Variant report

Variant	rs7539292
Chromosome Location	chr1:197697688-197697689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58353103	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518607	1.00[AMR][1000 genomes]
rs7530366	1.00[AMR][1000 genomes]
rs7531184	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197688000-197707400	Weak transcription	Left Ventricle	heart
2	chr1:197692800-197702600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:197693800-197701600	Weak transcription	Fetal Thymus	thymus
4	chr1:197694400-197705600	Weak transcription	Osteobl	bone
5	chr1:197694800-197698000	ZNF genes & repeats	Dnd41	blood
6	chr1:197694800-197707400	Weak transcription	Psoas Muscle	Psoas
7	chr1:197695400-197701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:197695800-197700800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:197695800-197701400	Weak transcription	Fetal Heart	heart
10	chr1:197695800-197701800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:197695800-197702600	Weak transcription	Liver	Liver
12	chr1:197695800-197704600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:197695800-197704600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:197695800-197704800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:197695800-197705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:197695800-197705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:197695800-197706200	Weak transcription	NHDF-Ad	bronchial
18	chr1:197695800-197708000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:197695800-197722000	Weak transcription	Fetal Lung	lung
20	chr1:197695800-197732800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:197696000-197702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:197696000-197702800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:197696000-197705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:197696000-197705800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:197696000-197706000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:197696000-197709200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:197696000-197716000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:197696200-197700000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:197697000-197709000	Weak transcription	Primary T cells from cord blood	blood
31	chr1:197697600-197697800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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