Variant report

Variant	rs9888218
Chromosome Location	chr11:73104145-73104146
allele	A/C
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	POLR2A	chr11:73102033-73111863	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:73104080-73104339	GM12878	blood:	n/a	n/a
3	SMC3	chr11:73103935-73105691	SK-N-SH	brain:	n/a	chr11:73105412-73105422 chr11:73105509-73105519
4	FOS	chr11:73104134-73104525	HUVEC	blood vessel:	n/a	chr11:73104274-73104282 chr11:73104273-73104283 chr11:73104272-73104283 chr11:73104273-73104283
5	CTCF	chr11:73104120-73104270	HCM	heart:	n/a	n/a
6	POLR2A	chr11:73102688-73107221	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr11:73103795-73104269	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:73104078-73104264	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:73103458-73105097	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:73103307-73110889	A549	lung:	n/a	n/a
12	POLR2A	chr11:73104141-73104218	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:73104036-73104446	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:73103694-73104182	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:73103462-73108498	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:73103211-73111119	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:73102758-73107984	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:73103338-73104454	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:73104009-73104450	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:73103383-73111849	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:73103947-73107934	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:73103987-73105170	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:73104034-73104333	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73086883..73089044-chr11:73102784..73104513,3	MCF-7	breast:
2	chr11:73065745..73068475-chr11:73103301..73106275,2	MCF-7	breast:

Variant related genes	Relation type
RELT	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000266866	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10898919	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs11235738	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235740	1.00[ASN][1000 genomes]
rs11235745	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235746	1.00[JPT][hapmap]
rs11235759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235778	0.89[ASN][1000 genomes]
rs11235779	0.89[ASN][1000 genomes]
rs11235809	1.00[JPT][hapmap]
rs11820929	1.00[JPT][hapmap]
rs11821094	1.00[JPT][hapmap]
rs11823913	1.00[JPT][hapmap]
rs11823923	1.00[JPT][hapmap]
rs11824614	1.00[JPT][hapmap]
rs11825028	0.89[ASN][1000 genomes]
rs11826896	1.00[JPT][hapmap]
rs11826909	1.00[JPT][hapmap]
rs11828904	1.00[JPT][hapmap]
rs12269884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12274589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12275766	1.00[JPT][hapmap]
rs12276892	1.00[JPT][hapmap]
rs12282282	1.00[JPT][hapmap]
rs12282790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12282871	0.89[ASN][1000 genomes]
rs12285885	1.00[JPT][hapmap]
rs12288753	1.00[JPT][hapmap]
rs12288934	0.89[ASN][1000 genomes]
rs12290367	1.00[ASN][1000 genomes]
rs12290623	1.00[JPT][hapmap]
rs12290835	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12293596	1.00[ASN][1000 genomes]
rs13328886	1.00[ASN][1000 genomes]
rs1894076	1.00[JPT][hapmap]
rs1938777	1.00[JPT][hapmap]
rs2027761	1.00[JPT][hapmap]
rs2027763	1.00[JPT][hapmap]
rs2298469	1.00[JPT][hapmap]
rs2298807	1.00[JPT][hapmap]
rs3741149	1.00[JPT][hapmap]
rs3825005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3933402	1.00[JPT][hapmap]
rs56721062	0.89[ASN][1000 genomes]
rs57181830	0.89[ASN][1000 genomes]
rs57536508	0.89[ASN][1000 genomes]
rs57727431	0.81[ASN][1000 genomes]
rs59955477	1.00[ASN][1000 genomes]
rs59991976	0.89[ASN][1000 genomes]
rs60038108	0.81[ASN][1000 genomes]
rs60349984	1.00[ASN][1000 genomes]
rs61613696	0.89[ASN][1000 genomes]
rs6592521	1.00[JPT][hapmap]
rs7101831	1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap]
rs7108368	1.00[CEU][hapmap]
rs7113420	1.00[JPT][hapmap]
rs7114009	1.00[JPT][hapmap]
rs7114376	1.00[JPT][hapmap]
rs7118451	1.00[CEU][hapmap]
rs7118982	1.00[JPT][hapmap]
rs7123298	1.00[JPT][hapmap]
rs7123985	1.00[JPT][hapmap]
rs7125598	1.00[JPT][hapmap]
rs7125978	1.00[JPT][hapmap]
rs7131383	1.00[JPT][hapmap]
rs7131397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs725103	1.00[JPT][hapmap]
rs7342205	1.00[JPT][hapmap]
rs7930880	1.00[JPT][hapmap]
rs7934218	1.00[JPT][hapmap]
rs7935948	1.00[JPT][hapmap]
rs7941359	1.00[JPT][hapmap]
rs7944099	1.00[JPT][hapmap]
rs7944346	1.00[JPT][hapmap]
rs7952686	1.00[JPT][hapmap]
rs876480	1.00[JPT][hapmap]
rs880317	1.00[JPT][hapmap]
rs947837	1.00[JPT][hapmap]
rs9888198	0.89[ASN][1000 genomes]
rs9971494	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv3375921	chr11:73101854-73104652	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:73095200-73116200	Weak transcription	Liver	Liver
3	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:73096600-73104400	Weak transcription	Fetal Brain Male	brain
5	chr11:73097000-73106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:73097400-73106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:73097600-73104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
12	chr11:73098000-73104200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:73098600-73104600	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:73098800-73104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:73098800-73105200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
19	chr11:73099000-73104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:73099200-73106600	Strong transcription	Fetal Intestine Small	intestine
21	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:73099400-73104800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:73099400-73109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73099600-73104200	Weak transcription	K562	blood
29	chr11:73099600-73105400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
31	chr11:73099800-73104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:73100000-73104800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
34	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:73100200-73104400	Weak transcription	Fetal Heart	heart
36	chr11:73100200-73106400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:73100400-73104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:73100400-73104800	Weak transcription	Colonic Mucosa	Colon
40	chr11:73100400-73109600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:73100400-73109800	Weak transcription	Right Atrium	heart
42	chr11:73100600-73104400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:73100600-73104600	Genic enhancers	NHEK	skin
44	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:73100800-73104200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:73100800-73109800	Weak transcription	HSMM	muscle
47	chr11:73100800-73115800	Weak transcription	HMEC	breast
48	chr11:73101000-73104200	Strong transcription	Primary T cells from cord blood	blood
49	chr11:73101000-73105600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain

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