Variant report

Variant	rs2512503
Chromosome Location	chr11:86747785-86747786
allele	A/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	ARID3A	chr11:86747784-86749121	HepG2	liver:	n/a	n/a
2	GATA3	chr11:86747622-86748360	T-47D	breast:	n/a	n/a
3	SREBP1	chr11:86747590-86750481	GM12878	blood:	n/a	chr11:86748528-86748542
4	NFIC	chr11:86747785-86748227	HepG2	liver:	n/a	n/a
5	UBTF	chr11:86747686-86747869	K562	blood:	n/a	n/a
6	FOXA1	chr11:86747731-86748273	HepG2	liver:	n/a	n/a
7	GATA3	chr11:86747619-86748453	MCF-7	breast:	n/a	n/a
8	EP300	chr11:86746768-86749151	K562	blood:	n/a	chr11:86748800-86748816 chr11:86748799-86748815
9	TEAD4	chr11:86747741-86748233	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:86747736-86748178	T-47D	breast:	n/a	n/a
11	GATA3	chr11:86747544-86749304	T-47D	breast:	n/a	n/a
12	POLR2A	chr11:86747031-86749276	K562	blood:	n/a	n/a
13	GATA1	chr11:86747656-86749271	PBDE	blood:	n/a	n/a
14	ZNF384	chr11:86746711-86749224	K562	blood:	n/a	n/a
15	IRF1	chr11:86747750-86749237	K562	blood:	n/a	chr11:86748863-86748877 chr11:86748157-86748166 chr11:86748883-86748897
16	POLR2A	chr11:86747405-86747928	HepG2	liver:	n/a	n/a
17	MYBL2	chr11:86747732-86749233	HepG2	liver:	n/a	n/a
18	EP300	chr11:86747644-86748276	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86700649..86702474-chr11:86746917..86748831,2	K562	blood:
2	chr11:86745920..86747956-chr11:88147015..88149207,2	K562	blood:
3	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
4	chr11:86711685..86713729-chr11:86746154..86748581,2	K562	blood:

Variant related genes	Relation type
TMEM135	TF binding region
ENSG00000246523	Chromatin interaction
ENSG00000174804	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1031584	0.91[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234939	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234951	0.86[ASN][1000 genomes]
rs1378878	0.83[AMR][1000 genomes]
rs1531145	0.90[ASN][1000 genomes]
rs1545600	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2445534	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445536	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445571	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2445572	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445574	0.87[AMR][1000 genomes]
rs2512360	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512374	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512375	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512376	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512377	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512378	0.87[AMR][1000 genomes]
rs2512398	0.90[ASN][1000 genomes]
rs2513211	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513232	0.83[AMR][1000 genomes]
rs2513235	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2513237	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2513238	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs3100849	0.90[ASN][1000 genomes]
rs3100851	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3133315	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4514445	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944661	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs564877	0.83[CHB][hapmap]
rs717722	0.90[ASN][1000 genomes]
rs717723	0.96[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs921872	0.87[EUR][1000 genomes];0.84[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:86735800-86748200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:86741000-86748000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:86742000-86748000	Weak transcription	HMEC	breast
5	chr11:86742000-86748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:86742000-86748200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:86742000-86748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:86742200-86748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:86742200-86748000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:86742400-86747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:86743000-86748200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:86743200-86748200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:86745000-86747800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:86745800-86748000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:86746000-86748000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:86746400-86748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:86746600-86748000	Enhancers	Adipose Nuclei	Adipose
18	chr11:86746600-86748200	Enhancers	NHDF-Ad	bronchial
19	chr11:86746800-86748000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:86746800-86748000	Enhancers	Hela-S3	cervix
21	chr11:86746800-86748200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:86746800-86748200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:86746800-86748200	Enhancers	Brain Substantia Nigra	brain
24	chr11:86747000-86747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:86747000-86748000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:86747000-86748000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:86747000-86748000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:86747000-86748000	Enhancers	Brain Angular Gyrus	brain
29	chr11:86747000-86748000	Enhancers	Brain Hippocampus Middle	brain
30	chr11:86747000-86748200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:86747000-86748200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:86747000-86748200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:86747000-86748200	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:86747000-86748200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:86747000-86748400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:86747200-86748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:86747200-86748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:86747200-86748200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:86747200-86748200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:86747200-86748200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:86747400-86748000	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:86747400-86748000	Weak transcription	Thymus	Thymus
43	chr11:86747400-86748200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:86747400-86748200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:86747400-86748200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:86747400-86748200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:86747400-86748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:86747400-86748200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:86747400-86748200	Enhancers	Liver	Liver
50	chr11:86747400-86748200	Enhancers	Fetal Brain Male	brain

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