Variant report

Variant	rs10760673
Chromosome Location	chr9:101878622-101878623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101877984..101880524-chr9:101882685..101887051,4	K562	blood:
2	chr9:101834831..101839915-chr9:101875600..101879100,5	K562	blood:
3	chr9:101803071..101805545-chr9:101877080..101878888,2	K562	blood:
4	chr9:101877300..101879132-chr9:101895213..101897266,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1013186	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10283455	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10733708	0.87[ASN][1000 genomes]
rs10733709	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10739778	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs10739779	1.00[CEU][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs10760667	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10760668	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10760669	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760670	0.81[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10760671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10760674	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10819634	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10819635	0.81[ASW][hapmap];0.83[CEU][hapmap];0.87[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10819636	0.96[ASN][1000 genomes]
rs10819637	0.95[EUR][1000 genomes]
rs10819638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819639	0.94[CEU][hapmap]
rs10819640	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[ASN][1000 genomes]
rs10988703	0.94[EUR][1000 genomes]
rs10988706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988709	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs10988713	0.81[ASN][1000 genomes]
rs10988714	0.83[CEU][hapmap];0.95[EUR][1000 genomes]
rs10988715	1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs10988716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988717	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs10988723	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11568752	1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs11568753	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs11568770	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs11568778	0.91[CHB][hapmap];0.97[CHD][hapmap];0.90[ASN][1000 genomes]
rs12346650	0.81[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12685571	1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs13286149	0.85[EUR][1000 genomes]
rs1571589	0.94[CEU][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1571590	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1590	0.89[CEU][hapmap];0.87[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1626340	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1699413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1888225	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.95[ASN][1000 genomes]
rs1973518	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2026811	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]
rs334348	0.89[CEU][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334349	0.89[CEU][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334350	0.85[EUR][1000 genomes]
rs334351	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs334353	0.93[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs334354	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];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334355	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]
rs334356	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs334357	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs334358	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs334362	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334363	0.95[ASN][1000 genomes]
rs334364	0.95[ASN][1000 genomes]
rs334365	0.81[ASN][1000 genomes]
rs334366	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs334367	0.95[ASN][1000 genomes]
rs334370	0.93[ASN][1000 genomes]
rs334371	0.80[ASN][1000 genomes]
rs367568	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3739798	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.95[ASN][1000 genomes]
rs383496	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs385057	0.85[EUR][1000 genomes]
rs401186	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs420549	1.00[CEU][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs44466	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs597457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6478972	0.81[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6478973	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031302	0.88[CEU][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7031309	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7041311	0.91[CHB][hapmap]
rs7042852	0.94[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7043624	0.83[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7874221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs789675	0.86[EUR][1000 genomes]
rs868	1.00[CEU][hapmap];0.96[TSI][hapmap];0.88[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
rs10760673	TGFBR1	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

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	chr9:101870200-101879200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:101870400-101881400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:101870600-101881200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:101870600-101889800	Weak transcription	NHLF	lung
15	chr9:101872600-101881200	Weak transcription	HSMM	muscle
16	chr9:101872600-101887800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:101873800-101879200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:101874000-101878800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:101874000-101879200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr9:101874000-101880000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr9:101874200-101879000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:101874400-101879000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:101874400-101879000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:101874400-101879200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:101874600-101880800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr9:101874600-101881000	Weak transcription	Left Ventricle	heart
27	chr9:101874600-101881600	Weak transcription	Right Atrium	heart
28	chr9:101874600-101889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:101875000-101879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr9:101875200-101878800	Enhancers	Brain Substantia Nigra	brain
31	chr9:101875400-101878800	Enhancers	Fetal Heart	heart
32	chr9:101875400-101879200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr9:101875400-101881000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:101875600-101879800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr9:101875600-101894600	Weak transcription	Spleen	Spleen
36	chr9:101875800-101880800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr9:101875800-101881000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr9:101875800-101881200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:101875800-101881200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr9:101875800-101881400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr9:101876000-101880600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr9:101876200-101878800	Enhancers	Brain Hippocampus Middle	brain
43	chr9:101876200-101881200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr9:101876400-101879000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr9:101876400-101879200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:101876400-101881000	Enhancers	Primary T cells from cord blood	blood
47	chr9:101876400-101881200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr9:101876400-101881200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:101876400-101889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:101876600-101878800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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