Variant report

Variant	rs2528913
Chromosome Location	chr7:22309509-22309510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10227259	0.85[JPT][hapmap]
rs10242605	0.88[JPT][hapmap]
rs10242851	0.85[JPT][hapmap]
rs10268485	0.88[JPT][hapmap]
rs10276593	0.80[JPT][hapmap]
rs10499545	0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs10499555	0.81[AMR][1000 genomes]
rs11975330	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs11980801	0.87[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap]
rs12333620	0.81[JPT][hapmap]
rs12534599	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs13239365	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs1345252	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1543886	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1568571	0.80[JPT][hapmap]
rs1568572	0.80[JPT][hapmap]
rs1636895	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17146447	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs17146449	0.81[AMR][1000 genomes]
rs17146497	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1798803	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2158877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2528644	0.84[ASN][1000 genomes]
rs2528914	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2528916	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2528917	0.88[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2528918	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2686469	0.83[ASN][1000 genomes]
rs2686499	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2686528	0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs34078437	0.81[ASN][1000 genomes]
rs62447068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7779510	0.86[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7796489	0.88[JPT][hapmap]
rs7798671	0.88[JPT][hapmap]
rs7799625	0.80[JPT][hapmap]
rs7805084	0.81[CEU][hapmap];0.93[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]

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	esv1815409	chr7:22296017-22315855	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2528913	HNRNPA2B1	cis	parietal	SCAN
rs2528913	CCDC126	cis	parietal	SCAN
rs2528913	DNAH11	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22262200-22329000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:22278600-22325800	Weak transcription	Liver	Liver
3	chr7:22278800-22310800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:22282200-22364400	Weak transcription	Esophagus	oesophagus
5	chr7:22297400-22309800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:22297400-22309800	Weak transcription	NHEK	skin
7	chr7:22306200-22309600	Weak transcription	HepG2	liver
8	chr7:22307200-22309600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:22307400-22309600	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:22307400-22309800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:22307400-22310200	Enhancers	Fetal Thymus	thymus
12	chr7:22307400-22310400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:22307600-22309600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:22307600-22309800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:22307600-22310200	Enhancers	Brain Substantia Nigra	brain
16	chr7:22307800-22309600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:22308200-22309600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:22308600-22310000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:22308600-22310200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr7:22308800-22310000	Enhancers	Brain Angular Gyrus	brain
21	chr7:22308800-22310400	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:22309000-22309600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:22309000-22309600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:22309000-22310000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:22309000-22310200	Enhancers	Fetal Intestine Large	intestine
26	chr7:22309000-22310200	Enhancers	Fetal Intestine Small	intestine
27	chr7:22309000-22310200	Enhancers	Small Intestine	intestine
28	chr7:22309000-22311000	Enhancers	Thymus	Thymus
29	chr7:22309200-22322400	Weak transcription	Primary T cells from cord blood	blood
30	chr7:22309400-22309600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:22309400-22310000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:22309400-22310000	Enhancers	Pancreas	Pancrea
33	chr7:22309400-22310000	Enhancers	Spleen	Spleen
34	chr7:22309400-22310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:22309400-22310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:22309400-22310400	Enhancers	Stomach Mucosa	stomach
37	chr7:22309400-22311800	Genic enhancers	Dnd41	blood

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