Variant report

Variant	rs10760670
Chromosome Location	chr9:101872163-101872164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101550931..101552651-chr9:101871439..101873531,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1013186	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs10283455	0.94[CEU][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs10733708	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10733709	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10739778	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs10739779	0.94[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs10760667	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10760668	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10760669	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10760671	0.94[CEU][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10760672	0.94[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10760673	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]
rs10760674	0.82[ASN][1000 genomes]
rs10819634	0.94[AFR][1000 genomes];0.90[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];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10819636	0.84[ASN][1000 genomes]
rs10819637	0.88[EUR][1000 genomes]
rs10819638	0.94[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10819639	0.89[CEU][hapmap]
rs10819640	0.82[ASN][1000 genomes]
rs10988703	0.87[EUR][1000 genomes]
rs10988706	0.94[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10988709	0.84[ASN][1000 genomes]
rs10988713	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10988714	0.88[EUR][1000 genomes]
rs10988715	0.84[ASN][1000 genomes]
rs10988716	0.94[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10988717	0.82[ASN][1000 genomes]
rs10988723	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11568752	0.84[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];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12685571	0.84[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];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1571590	0.94[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs1590	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1626340	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1699413	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1888223	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1888225	0.83[ASN][1000 genomes]
rs1973518	0.82[ASN][1000 genomes]
rs2026811	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]
rs334348	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs334349	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs334351	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs334353	0.87[ASW][hapmap];0.89[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs334354	0.81[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs334355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334356	0.94[CEU][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs334357	0.94[CEU][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs334358	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs334362	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs334363	0.83[ASN][1000 genomes]
rs334364	0.83[ASN][1000 genomes]
rs334365	0.92[ASN][1000 genomes]
rs334366	0.83[ASN][1000 genomes]
rs334367	0.83[ASN][1000 genomes]
rs334370	0.81[ASN][1000 genomes]
rs334371	0.91[ASN][1000 genomes]
rs367568	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3739798	0.83[ASN][1000 genomes]
rs383496	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs401186	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs420549	0.94[CEU][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs44466	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs597457	0.94[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6478972	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478973	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7022989	0.85[CHB][hapmap]
rs7031302	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7043624	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7874221	0.94[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs868	0.94[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10760670	TGFBR1	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101868400-101872200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:101868400-101872600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:101868400-101881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:101868400-101896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:101868600-101889800	Weak transcription	Ovary	ovary
6	chr9:101868600-101894400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:101868800-101873600	Enhancers	Primary B cells from peripheral blood	blood
8	chr9:101868800-101875800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:101869000-101872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:101869200-101872600	Enhancers	HSMM	muscle
11	chr9:101869200-101881600	Weak transcription	Fetal Intestine Small	intestine
12	chr9:101869200-101884800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:101869400-101872200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:101869400-101873200	Enhancers	Colon Smooth Muscle	Colon
15	chr9:101869400-101874400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:101869400-101876000	Weak transcription	Stomach Mucosa	stomach
17	chr9:101869400-101876800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:101869400-101876800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:101869600-101874200	Weak transcription	Gastric	stomach
20	chr9:101869600-101879400	Weak transcription	Placenta	Placenta
21	chr9:101869800-101872800	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:101869800-101874200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:101869800-101874200	Enhancers	Dnd41	blood
24	chr9:101869800-101884800	Weak transcription	A549	lung
25	chr9:101870000-101874000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr9:101870000-101874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:101870000-101874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:101870000-101874600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:101870000-101874800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr9:101870000-101876200	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:101870000-101876400	Weak transcription	Liver	Liver
32	chr9:101870000-101879800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:101870000-101908600	Weak transcription	Brain Germinal Matrix	brain
34	chr9:101870200-101872200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr9:101870200-101872200	Enhancers	Rectal Smooth Muscle	rectum
36	chr9:101870200-101872400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:101870200-101872400	Enhancers	Adipose Nuclei	Adipose
38	chr9:101870200-101874000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:101870200-101874200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:101870200-101874400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:101870200-101874600	Weak transcription	Brain Angular Gyrus	brain
42	chr9:101870200-101874800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:101870200-101875000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr9:101870200-101875200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr9:101870200-101875200	Weak transcription	Right Ventricle	heart
46	chr9:101870200-101875400	Weak transcription	Hela-S3	cervix
47	chr9:101870200-101876000	Weak transcription	NH-A	brain
48	chr9:101870200-101878200	Weak transcription	Fetal Lung	lung
49	chr9:101870200-101879200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:101870400-101872400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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