Variant report

Variant	rs17171738
Chromosome Location	chr7:40612468-40612469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16880239	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171724	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171729	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17171732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171733	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171751	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171752	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40609800-40612600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:40609800-40613800	Enhancers	HSMM	muscle
3	chr7:40610800-40613800	Enhancers	HSMMtube	muscle
4	chr7:40611000-40613400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:40611000-40613600	Enhancers	Fetal Heart	heart
6	chr7:40611200-40612600	Enhancers	NHDF-Ad	bronchial
7	chr7:40611200-40612800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:40611200-40613200	Enhancers	NH-A	brain
9	chr7:40611400-40612600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:40611400-40612800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:40611400-40612800	Enhancers	HMEC	breast
12	chr7:40611400-40612800	Enhancers	NHLF	lung
13	chr7:40611400-40613000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:40611400-40613000	Enhancers	Fetal Muscle Leg	muscle
15	chr7:40611600-40612800	Enhancers	Ovary	ovary
16	chr7:40611800-40613000	Enhancers	Osteobl	bone
17	chr7:40611800-40615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:40611800-40615800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:40611800-40617600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:40611800-40618600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:40611800-40623400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:40611800-40626000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:40612000-40612600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:40612000-40615600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:40612000-40619000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:40612200-40613400	Enhancers	Fetal Stomach	stomach
27	chr7:40612400-40612600	Enhancers	Aorta	Aorta
28	chr7:40612400-40612800	Enhancers	Fetal Lung	lung

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