Variant report

Variant	rs914991
Chromosome Location	chr9:101834340-101834341
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101828711..101831870-chr9:101834317..101838046,3	MCF-7	breast:
2	chr9:101625807..101630456-chr9:101833733..101838551,4	K562	blood:
3	chr9:101551519..101553128-chr9:101832657..101834738,2	K562	blood:
4	chr9:101793999..101795720-chr9:101833951..101836839,3	K562	blood:
5	chr9:101793999..101795600-chr9:101833951..101836839,3	K562	blood:

Variant related genes	Relation type
ENSG00000165138	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1051105	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10988700	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11788920	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12683114	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12685226	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13296447	0.95[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1537504	0.95[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16918198	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34111295	0.80[AMR][1000 genomes]
rs34863444	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35312758	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4742756	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4742758	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4742759	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4742760	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4742761	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743321	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743322	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4743323	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4743324	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4743325	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57992539	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7022000	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7025264	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7030799	0.80[AMR][1000 genomes]
rs7031364	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7031588	0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs7046702	0.82[CEU][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7047475	0.80[AMR][1000 genomes]
rs71494009	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7874183	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs885154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885155	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs914992	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs914991	TSTD2	cis	parietal	SCAN
rs914991	COL15A1	cis	lymphoblastoid	seeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101793800-101837600	Weak transcription	Psoas Muscle	Psoas
2	chr9:101816200-101844200	Weak transcription	Gastric	stomach
3	chr9:101818000-101834800	Weak transcription	Pancreas	Pancrea
4	chr9:101821800-101834800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr9:101822400-101837600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:101822400-101838600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:101825200-101836200	Weak transcription	Fetal Brain Female	brain
8	chr9:101826600-101848200	Weak transcription	Aorta	Aorta
9	chr9:101828600-101837000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:101829000-101834600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:101829600-101834800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:101830000-101837600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:101831000-101834600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:101831200-101839000	Weak transcription	Colonic Mucosa	Colon
15	chr9:101831600-101834600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:101831600-101834600	Enhancers	NHLF	lung
17	chr9:101831800-101837000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:101831800-101837000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:101831800-101838400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:101832000-101834600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:101832000-101837200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:101832200-101835200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:101832200-101836600	Weak transcription	Thymus	Thymus
24	chr9:101832200-101836600	Weak transcription	Dnd41	blood
25	chr9:101832200-101837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:101832200-101837600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:101832200-101837800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:101832200-101839200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:101832400-101834800	Enhancers	HSMM	muscle
30	chr9:101832400-101836600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:101832600-101837200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr9:101832600-101837600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:101832800-101835000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr9:101832800-101837400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr9:101833000-101835000	Enhancers	Lung	lung
36	chr9:101833000-101835800	Enhancers	NH-A	brain
37	chr9:101833200-101834400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr9:101833200-101834600	Enhancers	Right Ventricle	heart
39	chr9:101833200-101834800	Enhancers	Left Ventricle	heart
40	chr9:101833200-101834800	Enhancers	HSMMtube	muscle
41	chr9:101833200-101835200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:101833400-101834600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:101833400-101835000	Enhancers	Fetal Heart	heart
44	chr9:101833400-101837200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr9:101833400-101837200	Weak transcription	NHDF-Ad	bronchial
46	chr9:101833400-101837600	Weak transcription	Primary T cells from cord blood	blood
47	chr9:101833800-101835200	Enhancers	Right Atrium	heart
48	chr9:101833800-101835800	Enhancers	Adipose Nuclei	Adipose
49	chr9:101833800-101835800	Genic enhancers	Fetal Muscle Leg	muscle
50	chr9:101833800-101835800	Enhancers	Spleen	Spleen

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