Variant report

Variant	rs11466457
Chromosome Location	chr9:101886426-101886427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr9:101886364-101886560	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:101877984..101880524-chr9:101882685..101887051,4	K562	blood:
2	chr9:101881851..101884905-chr9:101885246..101888669,5	K562	blood:
3	chr9:101766336..101770748-chr9:101884242..101889062,4	K562	blood:
4	chr9:101835981..101841797-chr9:101884108..101889285,8	K562	blood:

Variant related genes	Relation type
TGFBR1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10988712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10988724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10988731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918338	1.00[AMR][1000 genomes]
rs1888225	0.82[YRI][hapmap]
rs7041311	0.83[YRI][hapmap]
rs9282874	1.00[AFR][1000 genomes];1.00[AMR][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	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
2	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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101868400-101896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:101868600-101889800	Weak transcription	Ovary	ovary
3	chr9:101868600-101894400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:101870000-101908600	Weak transcription	Brain Germinal Matrix	brain
5	chr9:101870600-101889800	Weak transcription	NHLF	lung
6	chr9:101872600-101887800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:101874600-101889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:101875600-101894600	Weak transcription	Spleen	Spleen
9	chr9:101876400-101889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:101876600-101904200	Weak transcription	Liver	Liver
11	chr9:101877000-101888200	Weak transcription	Osteobl	bone
12	chr9:101877000-101889400	Weak transcription	HSMMtube	muscle
13	chr9:101877400-101887800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:101877400-101888200	Weak transcription	Right Ventricle	heart
15	chr9:101878000-101897400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:101878800-101891800	Weak transcription	Fetal Stomach	stomach
17	chr9:101878800-101892400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:101878800-101903200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:101879000-101887400	Weak transcription	Fetal Brain Female	brain
20	chr9:101879800-101888400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:101881800-101887800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:101881800-101887800	Weak transcription	NHDF-Ad	bronchial
23	chr9:101882000-101888200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:101882000-101888200	Enhancers	Primary T cells from cord blood	blood
25	chr9:101882000-101892600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr9:101882000-101893400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:101882000-101893400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr9:101882000-101895000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr9:101882200-101888200	Weak transcription	HSMM	muscle
30	chr9:101882200-101889200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:101882200-101889400	Weak transcription	Fetal Intestine Small	intestine
32	chr9:101882200-101901400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr9:101882200-101903000	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:101882400-101886800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr9:101882400-101893200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:101882400-101894600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr9:101882800-101886600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr9:101882800-101889200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr9:101883000-101887400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:101883000-101889800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr9:101883000-101900000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:101883200-101887400	Weak transcription	Fetal Heart	heart
43	chr9:101884000-101886800	Enhancers	Psoas Muscle	Psoas
44	chr9:101884000-101889000	Weak transcription	Primary B cells from cord blood	blood
45	chr9:101884200-101887800	Weak transcription	Left Ventricle	heart
46	chr9:101884400-101887400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:101884400-101891200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr9:101884400-101892800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:101884600-101897200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr9:101884800-101888000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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