Variant report

Variant	rs2711898
Chromosome Location	chr4:104063071-104063072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104055572..104059211-chr4:104061309..104066023,4	K562	blood:
2	chr4:104061194..104063375-chr4:104118049..104119633,2	K562	blood:
3	chr4:104061384..104063659-chr4:104069701..104071201,2	K562	blood:
4	chr4:104057711..104060720-chr4:104061309..104064889,4	K562	blood:
5	chr4:104060790..104063140-chr4:104075370..104077104,2	K562	blood:

Variant related genes	Relation type
ENSG00000138778	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1031804	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727498	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12501621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17217473	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2045746	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2069274	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2126470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169508	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2251322	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2251634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2615539	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2623060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623064	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623070	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711897	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711899	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2720448	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2720458	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2720460	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2720461	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2720462	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2720464	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2720468	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2720469	0.83[ASW][hapmap];0.82[GIH][hapmap];0.85[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2720471	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2866635	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699050	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4699051	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533056	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6810571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6813563	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6815783	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6841136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6850461	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2711898	KRT8P46	cis	lung	GTEx
rs2711898	PPP3CA	cis	parietal	SCAN
rs2711898	BDH2	cis	Artery Tibial	GTEx
rs2711898	BDH2	cis	cerebellum	SCAN
rs2711898	BDH2	cis	Skin Sun Exposed Lower leg	GTEx
rs2711898	BDH2	Cis_1M	lymphoblastoid	RTeQTL
rs2711898	BDH2	cis	Esophagus Muscularis	GTEx
rs2711898	BDH2	cis	Thyroid	GTEx
rs2711898	MANBA	cis	multi-tissue	Pritchard
rs2711898	MANBA	Cis_1M	lymphoblastoid	RTeQTL
rs2711898	BDH2	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104021000-104063800	Weak transcription	Fetal Stomach	stomach
2	chr4:104021000-104068400	Weak transcription	Fetal Brain Male	brain
3	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
4	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
5	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:104021400-104074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:104029000-104089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:104029800-104089000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:104030200-104063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:104030200-104089600	Weak transcription	Hela-S3	cervix
12	chr4:104031200-104069000	Weak transcription	Primary B cells from cord blood	blood
13	chr4:104038200-104095800	Strong transcription	Fetal Thymus	thymus
14	chr4:104039200-104077400	Strong transcription	Dnd41	blood
15	chr4:104044600-104070600	Weak transcription	HepG2	liver
16	chr4:104048600-104071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:104049000-104073800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:104049000-104075200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:104049400-104065600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:104049600-104078200	Weak transcription	Brain Germinal Matrix	brain
21	chr4:104049800-104074400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:104050600-104085400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:104050800-104071600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:104051000-104089200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:104051000-104092600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:104051400-104089400	Weak transcription	Placenta	Placenta
27	chr4:104051600-104088800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:104051800-104076800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:104052000-104089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:104052600-104088800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:104053200-104077400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:104053400-104063400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:104054800-104069800	Weak transcription	Fetal Intestine Large	intestine
34	chr4:104055000-104073400	Weak transcription	Fetal Kidney	kidney
35	chr4:104055200-104067200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr4:104055600-104089200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:104056800-104080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:104057000-104068800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:104057000-104069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:104057600-104071200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:104058200-104067000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:104058200-104118400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:104058800-104079400	Weak transcription	Primary T cells from cord blood	blood
44	chr4:104059000-104064600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:104059200-104071800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:104059400-104063200	Weak transcription	Fetal Lung	lung
47	chr4:104059400-104063400	Weak transcription	NHDF-Ad	bronchial
48	chr4:104059400-104063600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:104059400-104063600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:104059400-104063800	Weak transcription	Thymus	Thymus

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