Variant report

Variant	rs4743184
Chromosome Location	chr9:100955714-100955715
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	HCFC1	chr9:100954985-100955742	K562	blood:	n/a	n/a
2	CBX3	chr9:100955016-100955978	K562	blood:	n/a	n/a
3	RAD21	chr9:100955267-100955734	H1-hESC	embryonic stem cell:	n/a	chr9:100955485-100955504
4	POLR2A	chr9:100954256-100955874	HepG2	liver:	n/a	n/a
5	MYC	chr9:100954479-100955722	K562	blood:	n/a	chr9:100955100-100955110
6	E2F4	chr9:100955325-100955813	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr9:100954511-100955757	K562	blood:	n/a	chr9:100955100-100955110
8	SMARCB1	chr9:100953772-100955837	Hela-S3	cervix:	n/a	n/a
9	REST	chr9:100954779-100956064	H1-neurons	neurons:	n/a	chr9:100955067-100955080 chr9:100955422-100955435
10	MAX	chr9:100953892-100955749	K562	blood:	n/a	chr9:100955100-100955110
11	MAX	chr9:100953607-100955775	HepG2	liver:	n/a	chr9:100955100-100955110
12	NR2F2	chr9:100954723-100955790	MCF-7	breast:	n/a	n/a
13	BCLAF1	chr9:100955196-100955714	GM12878	blood:	n/a	n/a
14	TCF12	chr9:100955168-100955725	A549	lung:	n/a	n/a
15	MXI1	chr9:100953878-100956313	IMR90	lung:	n/a	n/a
16	RAD21	chr9:100955200-100955781	ECC-1	luminal epithelium:	n/a	chr9:100955485-100955504
17	ZNF143	chr9:100955240-100955962	K562	blood:	n/a	chr9:100955493-100955503
18	GTF2F1	chr9:100955221-100955905	Hela-S3	cervix:	n/a	n/a
19	RUNX3	chr9:100954947-100955769	GM12878	blood:	n/a	n/a
20	TBL1XR1	chr9:100955115-100955738	K562	blood:	n/a	n/a
21	NR2F2	chr9:100954955-100955850	K562	blood:	n/a	n/a
22	POLR2A	chr9:100955000-100955864	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr9:100954832-100955850	H1-neurons	neurons:	n/a	n/a
24	FOS	chr9:100955579-100955806	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr9:100954323-100955865	K562	blood:	n/a	n/a
26	MAX	chr9:100954794-100956011	A549	lung:	n/a	chr9:100955100-100955110
27	POLR2A	chr9:100954904-100955757	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr9:100955192-100955774	GM12878	blood:	n/a	n/a
29	CTCF	chr9:100954974-100955781	MCF-7	breast:	n/a	chr9:100955156-100955165 chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
30	CTCF	chr9:100954901-100955850	A549	lung:	n/a	chr9:100955156-100955165 chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
31	CHD2	chr9:100954908-100955776	Hela-S3	cervix:	n/a	n/a
32	MAX	chr9:100954363-100955880	MCF-7	breast:	n/a	chr9:100955100-100955110
33	POLR2A	chr9:100954721-100955873	Hela-S3	cervix:	n/a	n/a
34	MAX	chr9:100954915-100955778	ECC-1	luminal epithelium:	n/a	chr9:100955100-100955110
35	KAP1	chr9:100955366-100955750	U2OS	brain:	n/a	n/a
36	SIN3A	chr9:100954157-100955759	H1-hESC	embryonic stem cell:	n/a	chr9:100954750-100954759
37	RCOR1	chr9:100955067-100955827	GM12878	blood:	n/a	n/a
38	MAFK	chr9:100955425-100955778	HepG2	liver:	n/a	n/a
39	FOS	chr9:100955521-100955909	MCF10A-Er-Src	breast:	n/a	n/a
40	ZC3H11A	chr9:100955198-100955804	K562	blood:	n/a	n/a
41	POLR2A	chr9:100954360-100955840	Hela-S3	cervix:	n/a	n/a
42	TEAD4	chr9:100954928-100955841	K562	blood:	n/a	n/a
43	MTA3	chr9:100955013-100955854	GM12878	blood:	n/a	n/a
44	EP300	chr9:100955028-100955777	K562	blood:	n/a	n/a
45	POLR2A	chr9:100954743-100955888	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr9:100954669-100955843	K562	blood:	n/a	n/a
47	TBP	chr9:100955153-100955765	HepG2	liver:	n/a	n/a
48	ZBTB7A	chr9:100954900-100955785	ECC-1	luminal epithelium:	n/a	n/a
49	ARID3A	chr9:100955397-100955799	HepG2	liver:	n/a	n/a
50	MAZ	chr9:100953930-100955847	IMR90	lung:	n/a	chr9:100955100-100955110

No.	Distal block	Cell Line	Cell type
1	chr9:100883473..100884060-chr9:100955051..100955908,2	MCF-7	breast:
2	chr9:100954775..100957184-chr9:101014893..101018488,3	K562	blood:
3	chr9:100817834..100821135-chr9:100954026..100958556,6	MCF-7	breast:
4	chr9:100933577..100935693-chr9:100955515..100957092,2	MCF-7	breast:
5	chr9:100952914..100958060-chr9:101016344..101019894,9	MCF-7	breast:
6	chr9:100881017..100881835-chr9:100955114..100955851,2	MCF-7	breast:
7	chr9:100955094..100957753-chr9:101010315..101013161,2	MCF-7	breast:
8	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
9	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:
10	chr9:100955088..100957656-chr9:100968748..100970804,2	K562	blood:
11	chr9:100907427..100908179-chr9:100955147..100955878,2	MCF-7	breast:
12	chr9:100919441..100922231-chr9:100955358..100957777,2	MCF-7	breast:
13	chr1:6844513..6845109-chr9:100955150..100955785,2	Hela-S3	cervix:
14	chr9:100880288..100886270-chr9:100953608..100957100,8	MCF-7	breast:
15	chr9:100955096..100955755-chr9:101025700..101026542,2	MCF-7	breast:
16	chr9:100835251..100838541-chr9:100953348..100956508,6	MCF-7	breast:
17	chr9:100877974..100882322-chr9:100953652..100957621,5	K562	blood:

Variant related genes	Relation type
CORO2A	TF binding region
ENSG00000095383	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000095380	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10760184	0.97[ASN][1000 genomes]
rs10818575	0.84[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs10818584	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10818607	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10985340	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10985358	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985359	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985360	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985508	0.91[CHD][hapmap]
rs11791308	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11791479	0.96[ASN][1000 genomes]
rs12238262	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12353091	1.00[ASN][1000 genomes]
rs16913615	0.84[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs16913616	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16913619	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16913640	0.84[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs16913644	0.92[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2282432	0.86[CHD][hapmap];0.93[JPT][hapmap]
rs3758258	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3780454	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3824452	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4743183	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752813	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55754658	0.94[EUR][1000 genomes]
rs56358945	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57124873	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59025844	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59604725	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3415002	chr9:100953931-100956079	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100953600-100955800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:100953600-100955800	Active TSS	Rectal Smooth Muscle	rectum
3	chr9:100953800-100955800	Flanking Active TSS	HMEC	breast
4	chr9:100953800-100956000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr9:100954000-100955800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr9:100954000-100955800	Active TSS	Right Ventricle	heart
7	chr9:100954000-100956000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:100954000-100956000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:100954000-100956000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr9:100954200-100955800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:100954200-100955800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:100954200-100955800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr9:100954200-100955800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:100954200-100955800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:100954200-100955800	Active TSS	Small Intestine	intestine
16	chr9:100954200-100956000	Active TSS	Primary T cells from cord blood	blood
17	chr9:100954400-100955800	Active TSS	Brain Substantia Nigra	brain
18	chr9:100954400-100956000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:100954400-100956000	Active TSS	Brain Cingulate Gyrus	brain
20	chr9:100954400-100956200	Active TSS	Brain Angular Gyrus	brain
21	chr9:100954600-100955800	Active TSS	Aorta	Aorta
22	chr9:100954600-100955800	Active TSS	Right Atrium	heart
23	chr9:100954600-100955800	Active TSS	NHDF-Ad	bronchial
24	chr9:100954600-100956000	Active TSS	NHLF	lung
25	chr9:100954800-100955800	Active TSS	Brain Germinal Matrix	brain
26	chr9:100954800-100955800	Active TSS	Fetal Brain Female	brain
27	chr9:100954800-100955800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
28	chr9:100955000-100955800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr9:100955200-100955800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:100955200-100955800	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr9:100955200-100955800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:100955200-100955800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:100955200-100955800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr9:100955200-100955800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:100955200-100955800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:100955200-100955800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr9:100955200-100955800	Flanking Active TSS	Placenta	Placenta
38	chr9:100955200-100955800	Flanking Active TSS	Fetal Thymus	thymus
39	chr9:100955200-100955800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr9:100955200-100955800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr9:100955200-100956000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr9:100955200-100956000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:100955200-100956000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:100955200-100956000	Flanking Active TSS	Dnd41	blood
45	chr9:100955200-100956000	Flanking Active TSS	GM12878-XiMat	blood
46	chr9:100955400-100955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:100955400-100955800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:100955400-100955800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:100955400-100955800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:100955400-100955800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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