Variant report

Variant	rs6717478
Chromosome Location	chr2:63657053-63657054
allele	A/T
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:7)

rs_ID	r²[population]
rs17028099	1.00[ASN][1000 genomes]
rs1878506	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57184962	1.00[ASN][1000 genomes]
rs57329063	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57413391	1.00[ASN][1000 genomes]
rs73937260	1.00[ASN][1000 genomes]
rs7601187	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3382119	chr2:63634350-63660437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
2	chr2:63631800-63661600	Weak transcription	Ovary	ovary
3	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
7	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
8	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
10	chr2:63643000-63673200	Weak transcription	Left Ventricle	heart
11	chr2:63652600-63666600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:63652600-63673800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:63653200-63673800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:63653800-63660200	Weak transcription	Liver	Liver
15	chr2:63654000-63668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:63654600-63670600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:63654600-63678200	Weak transcription	Psoas Muscle	Psoas
18	chr2:63655000-63679000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:63655600-63657400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:63656000-63662000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:63656200-63661800	Weak transcription	Fetal Lung	lung
22	chr2:63656200-63675600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:63656800-63658400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:63657000-63657200	Weak transcription	Adipose Nuclei	Adipose

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