Variant report

Variant	rs17331626
Chromosome Location	chr2:186290480-186290481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs17331432	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17403617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862993	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767037	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584009	chr2:186203397-186345148	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv459982	chr2:186213755-186475590	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv584012	chr2:186213755-186475590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875525	chr2:186223503-186434458	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv470502	chr2:186245653-186309738	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv459983	chr2:186245653-186377253	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv584013	chr2:186245653-186377253	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv524452	chr2:186258409-186297074	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv518379	chr2:186259653-186297074	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv875526	chr2:186272059-186434458	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv875527	chr2:186272059-186475590	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17331626	AC007966.1	cis	Skin Sun Exposed Lower leg	GTEx
rs17331626	AC007966.1	cis	Nerve Tibial	GTEx
rs17331626	AC007966.1	cis	Thyroid	GTEx
rs17331626	AC007966.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186289600-186290600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:186289600-186291200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:186289600-186291600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:186289600-186291800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:186289600-186291800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:186289600-186291800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:186289600-186291800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:186289600-186291800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:186289600-186291800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:186289600-186292000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:186289600-186292000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:186289600-186292000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:186289600-186292200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:186289800-186290600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:186289800-186291000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:186289800-186291400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:186289800-186292400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:186290000-186290600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:186290000-186291200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:186290200-186290600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:186290200-186290600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:186290200-186290600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:186290200-186290800	Active TSS	HUVEC	blood vessel
24	chr2:186290200-186291000	Active TSS	Primary T cells from cord blood	blood
25	chr2:186290200-186291400	Active TSS	GM12878-XiMat	blood
26	chr2:186290200-186292000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr2:186290400-186290600	Enhancers	Primary B cells from cord blood	blood
28	chr2:186290400-186290800	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:186290400-186291000	Active TSS	Fetal Intestine Large	intestine

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