Variant report

Variant	rs2026811
Chromosome Location	chr9:101879263-101879264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101877984..101880524-chr9:101882685..101887051,4	K562	blood:
2	chr9:101878794..101881758-chr9:101887608..101891012,3	K562	blood:

Variant related genes	Relation type
ENSG00000106799	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1013186	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs10283455	0.94[CEU][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs10733708	0.97[ASN][1000 genomes]
rs10733709	0.94[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10739778	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs10739779	0.94[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs10760667	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10760668	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10760669	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10760670	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10760671	0.94[CEU][hapmap];0.87[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10760672	0.94[CEU][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10760673	0.81[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10760674	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10819634	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10819635	1.00[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10819636	0.82[ASN][1000 genomes]
rs10819637	0.89[EUR][1000 genomes]
rs10819638	0.94[CEU][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10819639	0.89[CEU][hapmap]
rs10819640	0.81[ASN][1000 genomes]
rs10988703	0.87[EUR][1000 genomes]
rs10988706	0.94[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10988709	0.82[ASN][1000 genomes]
rs10988713	1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs10988714	0.89[EUR][1000 genomes]
rs10988715	0.82[ASN][1000 genomes]
rs10988716	0.94[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10988717	0.81[ASN][1000 genomes]
rs10988723	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11568752	0.82[ASN][1000 genomes]
rs12346650	1.00[ASW][hapmap];0.90[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12685571	0.82[ASN][1000 genomes]
rs12686783	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1571589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571590	0.94[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs1590	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1626340	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1699413	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1888223	0.83[ASN][1000 genomes]
rs1888225	0.81[ASN][1000 genomes]
rs1973518	0.80[ASN][1000 genomes]
rs334348	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs334349	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs334351	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334353	0.87[ASW][hapmap];0.89[CEU][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334354	0.81[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334356	0.94[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs334357	0.94[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs334358	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs334362	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334363	0.81[ASN][1000 genomes]
rs334364	0.81[ASN][1000 genomes]
rs334365	0.95[ASN][1000 genomes]
rs334366	0.81[ASN][1000 genomes]
rs334367	0.81[ASN][1000 genomes]
rs334371	0.94[ASN][1000 genomes]
rs367568	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3739798	0.81[ASN][1000 genomes]
rs383496	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs401186	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs420549	0.94[CEU][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs44466	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs597457	0.94[CEU][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6478972	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6478973	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7022989	0.85[CHB][hapmap]
rs7031302	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7031309	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042852	0.89[CEU][hapmap];0.90[CHD][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7043624	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874221	0.94[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs789675	0.80[EUR][1000 genomes]
rs868	0.94[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][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	nsv893618	chr9:101800106-101886071	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2026811	TGFBR1	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101868400-101881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:101868400-101896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:101868600-101889800	Weak transcription	Ovary	ovary
4	chr9:101868600-101894400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:101869200-101881600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:101869200-101884800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:101869600-101879400	Weak transcription	Placenta	Placenta
8	chr9:101869800-101884800	Weak transcription	A549	lung
9	chr9:101870000-101879800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:101870000-101908600	Weak transcription	Brain Germinal Matrix	brain
11	chr9:101870400-101881400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:101870600-101881200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr9:101870600-101889800	Weak transcription	NHLF	lung
14	chr9:101872600-101881200	Weak transcription	HSMM	muscle
15	chr9:101872600-101887800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:101874000-101880000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr9:101874600-101880800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr9:101874600-101881000	Weak transcription	Left Ventricle	heart
19	chr9:101874600-101881600	Weak transcription	Right Atrium	heart
20	chr9:101874600-101889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:101875000-101879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:101875400-101881000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:101875600-101879800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:101875600-101894600	Weak transcription	Spleen	Spleen
25	chr9:101875800-101880800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr9:101875800-101881000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:101875800-101881200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:101875800-101881200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr9:101875800-101881400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr9:101876000-101880600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:101876200-101881200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr9:101876400-101881000	Enhancers	Primary T cells from cord blood	blood
33	chr9:101876400-101881200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr9:101876400-101881200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:101876400-101889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:101876600-101879800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr9:101876600-101880600	Weak transcription	GM12878-XiMat	blood
38	chr9:101876600-101904200	Weak transcription	Liver	Liver
39	chr9:101876800-101879400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:101877000-101879800	Weak transcription	Primary B cells from cord blood	blood
41	chr9:101877000-101881000	Weak transcription	Fetal Thymus	thymus
42	chr9:101877000-101884000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:101877000-101888200	Weak transcription	Osteobl	bone
44	chr9:101877000-101889400	Weak transcription	HSMMtube	muscle
45	chr9:101877200-101879400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:101877200-101879400	Enhancers	HMEC	breast
47	chr9:101877200-101884400	Weak transcription	Aorta	Aorta
48	chr9:101877400-101880800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr9:101877400-101881200	Weak transcription	Stomach Mucosa	stomach
50	chr9:101877400-101881400	Weak transcription	Small Intestine	intestine

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