Variant report

Variant	rs2347990
Chromosome Location	chr7:47690398-47690399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:47690133-47691804	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:47679338..47681929-chr7:47689941..47692555,2	MCF-7	breast:
2	chr7:47620975..47623376-chr7:47688566..47690749,2	MCF-7	breast:
3	chr7:47672920..47677913-chr7:47686931..47690412,5	MCF-7	breast:

Variant related genes	Relation type
C7orf65	TF binding region
ENSG00000136205	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11761007	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13242997	0.82[CHB][hapmap]
rs34658417	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720604	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724605	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724609	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6968969	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969715	0.80[JPT][hapmap]
rs921576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965924	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47686200-47690600	Enhancers	A549	lung
2	chr7:47687000-47691800	Enhancers	HSMMtube	muscle
3	chr7:47687200-47693200	Weak transcription	Left Ventricle	heart
4	chr7:47687200-47693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:47687200-47695000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:47687400-47690600	Weak transcription	Ovary	ovary
7	chr7:47687400-47690800	Weak transcription	Lung	lung
8	chr7:47687400-47692600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:47687400-47693600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:47687600-47693200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:47687800-47690600	Weak transcription	Placenta	Placenta
12	chr7:47688000-47690600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:47688000-47690800	Weak transcription	Adipose Nuclei	Adipose
14	chr7:47688000-47693200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:47688000-47693200	Weak transcription	Right Atrium	heart
16	chr7:47688000-47693200	Weak transcription	Spleen	Spleen
17	chr7:47688200-47691000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:47688200-47691000	Weak transcription	HepG2	liver
19	chr7:47688200-47693400	Weak transcription	Fetal Kidney	kidney
20	chr7:47688600-47690400	Weak transcription	NHLF	lung
21	chr7:47688800-47691000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:47688800-47692200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:47688800-47693400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:47688800-47694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:47689000-47690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:47689000-47693200	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:47689000-47694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:47689200-47690600	Weak transcription	Osteobl	bone
29	chr7:47689200-47690800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:47689400-47690600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:47689600-47691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:47689600-47692000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:47689800-47691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:47689800-47694800	Enhancers	NH-A	brain
35	chr7:47690000-47695000	Enhancers	NHDF-Ad	bronchial
36	chr7:47690200-47690400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:47690200-47690600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:47690200-47690800	Enhancers	Fetal Muscle Trunk	muscle
39	chr7:47690200-47693000	Enhancers	HSMM	muscle

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