Variant report

Variant	rs356131
Chromosome Location	chr9:97567327-97567328
allele	A/G
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	FOS	chr9:97567203-97568382	MCF10A-Er-Src	breast:	n/a	chr9:97567376-97567386 chr9:97567513-97567522 chr9:97567380-97567392 chr9:97567376-97567386 chr9:97567376-97567386
2	RCOR1	chr9:97567251-97568376	Hela-S3	cervix:	n/a	n/a
3	FOSL2	chr9:97567098-97569122	A549	lung:	n/a	chr9:97567376-97567386 chr9:97567513-97567522 chr9:97567380-97567392 chr9:97567376-97567386 chr9:97567376-97567386
4	FOS	chr9:97567235-97567461	MCF10A-Er-Src	breast:	n/a	chr9:97567376-97567386 chr9:97567380-97567392 chr9:97567376-97567386 chr9:97567376-97567386
5	EP300	chr9:97567029-97569433	A549	lung:	n/a	chr9:97567931-97567945 chr9:97567451-97567465 chr9:97569185-97569194
6	STAT3	chr9:97567246-97568346	MCF10A-Er-Src	breast:	n/a	chr9:97567905-97567913 chr9:97567433-97567441 chr9:97567936-97567944 chr9:97567418-97567441
7	POLR2A	chr9:97567202-97569111	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr9:97567249-97567529	MCF10A-Er-Src	breast:	n/a	chr9:97567376-97567386 chr9:97567513-97567522 chr9:97567380-97567392 chr9:97567376-97567386 chr9:97567376-97567386
9	TCF12	chr9:97566983-97569593	A549	lung:	n/a	chr9:97567573-97567580
10	STAT3	chr9:97567282-97568353	MCF10A-Er-Src	breast:	n/a	chr9:97567905-97567913 chr9:97567433-97567441 chr9:97567936-97567944 chr9:97567418-97567441
11	USF2	chr9:97567223-97568170	Hela-S3	cervix:	n/a	n/a
12	JUND	chr9:97567254-97568329	Hela-S3	cervix:	n/a	chr9:97567376-97567386 chr9:97567513-97567522 chr9:97567380-97567392 chr9:97567376-97567386 chr9:97567376-97567386
13	SP1	chr9:97567028-97569073	A549	lung:	n/a	n/a
14	SMC3	chr9:97567239-97568864	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr9:97567268-97568310	Hela-S3	cervix:	n/a	n/a
16	TBP	chr9:97567216-97568397	Hela-S3	cervix:	n/a	n/a
17	SP1	chr9:97567143-97569062	A549	lung:	n/a	n/a
18	MAX	chr9:97567024-97569123	A549	lung:	n/a	n/a
19	STAT3	chr9:97567284-97568884	MCF10A-Er-Src	breast:	n/a	chr9:97567905-97567913 chr9:97567433-97567441 chr9:97567936-97567944 chr9:97567418-97567441
20	FOS	chr9:97567201-97568357	MCF10A-Er-Src	breast:	n/a	chr9:97567376-97567386 chr9:97567513-97567522 chr9:97567380-97567392 chr9:97567376-97567386 chr9:97567376-97567386
21	STAT3	chr9:97567283-97568352	MCF10A-Er-Src	breast:	n/a	chr9:97567905-97567913 chr9:97567433-97567441 chr9:97567936-97567944 chr9:97567418-97567441

No.	Distal block	Cell Line	Cell type
1	chr9:97563933..97571351-chr9:97576672..97582632,18	MCF-7	breast:
2	chr9:97561090..97565349-chr9:97565674..97569027,3	MCF-7	breast:
3	chr9:97565914..97571490-chr9:97674207..97687450,22	MCF-7	breast:
4	chr9:97566500..97569295-chr9:97687773..97689488,3	MCF-7	breast:
5	chr9:97544027..97547289-chr9:97566089..97570297,6	MCF-7	breast:
6	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
7	chr9:97566294..97568352-chr9:97767960..97769924,2	MCF-7	breast:
8	chr9:97567267..97570161-chr9:97772794..97775728,2	MCF-7	breast:
9	chr9:97563515..97567876-chr9:97764725..97767741,5	MCF-7	breast:
10	chr9:97545480..97547938-chr9:97567296..97570948,4	MCF-7	breast:

Variant related genes	Relation type
MIR2278	TF binding region
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1016013	0.85[EUR][1000 genomes]
rs10821401	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10821415	0.96[CEU][hapmap];0.84[CHB][hapmap]
rs10993365	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10993370	0.82[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs10993372	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10993377	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10993398	0.96[CEU][hapmap]
rs12235316	0.96[CEU][hapmap];0.84[CHB][hapmap];0.92[YRI][hapmap]
rs1751434	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs183066	0.96[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2183958	0.80[EUR][1000 genomes]
rs2584806	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28540393	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35487382	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs356141	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368138	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs391784	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs406654	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs414253	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4385527	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs446540	0.96[CEU][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4744369	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs4744378	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4744403	1.00[CEU][hapmap]
rs4744411	0.96[CEU][hapmap]
rs7019720	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7026071	0.83[EUR][1000 genomes]
rs7851726	0.91[ASW][hapmap];0.96[CEU][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7853195	0.96[CEU][hapmap];0.84[CHB][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap]
rs7865239	0.96[CEU][hapmap]
rs7866848	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs356131	P2RX5	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97548600-97570400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:97549200-97567800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:97550200-97571200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:97556800-97575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:97557400-97567400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:97560400-97570000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:97561000-97568200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:97561200-97568200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:97562000-97567600	Strong transcription	Primary T cells from cord blood	blood
10	chr9:97562000-97572800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:97562200-97571200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:97563400-97584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:97563600-97568000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:97563600-97569200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:97563600-97569600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr9:97563600-97594400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:97563800-97567400	Weak transcription	Colonic Mucosa	Colon
18	chr9:97563800-97568000	Weak transcription	Liver	Liver
19	chr9:97563800-97568000	Weak transcription	Ovary	ovary
20	chr9:97563800-97568800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:97563800-97569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:97563800-97569400	Weak transcription	Right Ventricle	heart
23	chr9:97563800-97569600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:97563800-97569800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr9:97563800-97569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:97563800-97569800	Weak transcription	Fetal Stomach	stomach
27	chr9:97563800-97570200	Weak transcription	Lung	lung
28	chr9:97563800-97570400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:97563800-97570800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:97563800-97573400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:97563800-97573800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:97563800-97574600	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:97563800-97579600	Weak transcription	Gastric	stomach
34	chr9:97563800-97584200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:97564000-97567400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:97564000-97567800	Weak transcription	Adipose Nuclei	Adipose
37	chr9:97564000-97568000	Enhancers	Brain Hippocampus Middle	brain
38	chr9:97564000-97568000	Weak transcription	Fetal Heart	heart
39	chr9:97564000-97569600	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:97564000-97574400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:97564000-97574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:97564000-97574600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:97564000-97580000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr9:97564000-97589200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr9:97564200-97567400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:97564200-97567400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:97564200-97568000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:97564200-97569200	Weak transcription	Dnd41	blood
49	chr9:97564200-97580400	Weak transcription	K562	blood
50	chr9:97564400-97567600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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