Variant report

Variant	rs1529194
Chromosome Location	chr9:102848593-102848594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102848064..102853071-chr9:102854113..102861263,11	K562	blood:
2	chr9:102847485..102849962-chr9:102859943..102862151,3	MCF-7	breast:
3	chr9:102847010..102849181-chr9:102850800..102853345,2	MCF-7	breast:
4	chr9:102845337..102851064-chr9:102859939..102862983,5	MCF-7	breast:
5	chr9:102848437..102852539-chr9:102852964..102856114,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000023318	Chromatin interaction
ENSG00000119509	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1338122	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16918894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55773628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55813162	1.00[AMR][1000 genomes]
rs56265710	1.00[AMR][1000 genomes]
rs57518655	1.00[AMR][1000 genomes]
rs59679784	1.00[AMR][1000 genomes]
rs59700543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60045005	1.00[AMR][1000 genomes]
rs61521457	1.00[AMR][1000 genomes]
rs61636243	1.00[AMR][1000 genomes]
rs73655135	1.00[AMR][1000 genomes]
rs73656926	1.00[AMR][1000 genomes]
rs73656927	1.00[AMR][1000 genomes]
rs73656929	1.00[AMR][1000 genomes]
rs73656930	1.00[AMR][1000 genomes]
rs73656932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656935	1.00[AMR][1000 genomes]
rs73656937	1.00[AMR][1000 genomes]
rs73656938	1.00[AMR][1000 genomes]
rs73656939	1.00[AMR][1000 genomes]
rs73656949	1.00[AMR][1000 genomes]
rs73656950	1.00[AMR][1000 genomes]
rs73656951	1.00[AMR][1000 genomes]
rs73656954	1.00[AMR][1000 genomes]
rs73656955	1.00[AMR][1000 genomes]
rs73656957	1.00[AMR][1000 genomes]
rs7847283	1.00[AMR][1000 genomes]
rs7848856	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7867381	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
2	chr9:102822000-102849000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:102825800-102858200	Weak transcription	Fetal Intestine Small	intestine
4	chr9:102829200-102850600	Weak transcription	Aorta	Aorta
5	chr9:102829400-102848800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:102829400-102849200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr9:102829400-102849600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr9:102829400-102849800	Weak transcription	Stomach Mucosa	stomach
9	chr9:102836000-102859000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:102836800-102849000	Weak transcription	Fetal Lung	lung
11	chr9:102837000-102849800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:102837000-102859600	Weak transcription	Brain Anterior Caudate	brain
13	chr9:102837200-102860200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr9:102838800-102852200	Weak transcription	Adipose Nuclei	Adipose
15	chr9:102839600-102860000	Weak transcription	Fetal Stomach	stomach
16	chr9:102839800-102860200	Weak transcription	Right Atrium	heart
17	chr9:102840600-102855600	Weak transcription	Lung	lung
18	chr9:102842000-102850200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr9:102842200-102850600	Weak transcription	Left Ventricle	heart
20	chr9:102842200-102855600	Weak transcription	Gastric	stomach
21	chr9:102842400-102851600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:102842600-102851400	Weak transcription	Psoas Muscle	Psoas
23	chr9:102843200-102850200	Weak transcription	Spleen	Spleen
24	chr9:102843200-102851800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:102844000-102851200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr9:102844000-102851400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr9:102844800-102850000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:102844800-102851600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr9:102845000-102850600	Weak transcription	Pancreas	Pancrea
30	chr9:102845200-102848600	Weak transcription	Hela-S3	cervix
31	chr9:102845600-102848600	Weak transcription	HUVEC	blood vessel
32	chr9:102846000-102848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:102846000-102849600	Weak transcription	NHEK	skin
34	chr9:102846000-102858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:102846000-102860000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:102846200-102849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:102846200-102849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:102846200-102852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:102846200-102855600	Weak transcription	Right Ventricle	heart
40	chr9:102846400-102849600	Weak transcription	Liver	Liver
41	chr9:102846400-102850400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:102846400-102856000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr9:102846400-102859600	Weak transcription	NHLF	lung
44	chr9:102846400-102860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:102846600-102848600	Weak transcription	Brain Substantia Nigra	brain
46	chr9:102846600-102860000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr9:102846600-102860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:102846800-102848800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:102846800-102849800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:102846800-102850400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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