Variant report

Variant	rs7106180
Chromosome Location	chr11:18610365-18610366
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	chr11:18609976-18610539	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:18609987-18610629	K562	blood:	n/a	n/a
3	SMARCC1	chr11:18609697-18611092	Hela-S3	cervix:	n/a	n/a
4	JUND	chr11:18609959-18610492	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr11:18610102-18610401	HepG2	liver:	n/a	n/a
6	MYC	chr11:18610081-18610555	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:18609469-18610783	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:18609935-18610622	K562	blood:	n/a	n/a
9	EBF1	chr11:18610271-18610525	GM12878	blood:	n/a	n/a
10	FOSL2	chr11:18610021-18610750	A549	lung:	n/a	n/a
11	GATA3	chr11:18610120-18610539	T-47D	breast:	n/a	n/a
12	FOXP2	chr11:18609991-18610529	PFSK-1	brain:	n/a	n/a
13	ATF3	chr11:18610068-18610657	A549	lung:	n/a	n/a
14	YY1	chr11:18609900-18610573	HepG2	liver:	n/a	n/a
15	NR2C2	chr11:18610192-18610646	Hela-S3	cervix:	n/a	chr11:18610402-18610409
16	TEAD4	chr11:18610164-18610458	HepG2	liver:	n/a	n/a
17	GABPA	chr11:18609976-18610634	A549	lung:	n/a	n/a
18	SIN3AK20	chr11:18609976-18610641	A549	lung:	n/a	n/a
19	REST	chr11:18609989-18610482	PFSK-1	brain:	n/a	chr11:18610351-18610364
20	TAF1	chr11:18609812-18610690	A549	lung:	n/a	n/a
21	EP300	chr11:18609929-18610697	A549	lung:	n/a	chr11:18610363-18610379 chr11:18610354-18610370
22	POLR2A	chr11:18609828-18610787	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:18609897-18610695	PANC-1	pancreas:	n/a	n/a
24	MAZ	chr11:18610006-18610542	HepG2	liver:	n/a	n/a
25	TAF1	chr11:18609849-18610548	GM12878	blood:	n/a	n/a
26	HEY1	chr11:18609975-18610559	K562	blood:	n/a	n/a
27	POLR2A	chr11:18609860-18610806	Hela-S3	cervix:	n/a	n/a
28	REST	chr11:18610096-18610514	SK-N-SH	brain:	n/a	chr11:18610351-18610364
29	GABPA	chr11:18610077-18610504	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr11:18610117-18610510	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr11:18609424-18610643	GM18505	blood:	n/a	n/a
32	TAF7	chr11:18609923-18610556	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:18610079-18610527	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:18609883-18610636	MCF-7	breast:	n/a	n/a
35	SP1	chr11:18609663-18610677	A549	lung:	n/a	chr11:18610308-18610320 chr11:18610309-18610319 chr11:18610309-18610318 chr11:18610308-18610319 chr11:18610309-18610318 chr11:18610309-18610323 chr11:18610308-18610320 chr11:18610309-18610319 chr11:18610310-18610319
36	BACH1	chr11:18610312-18610506	K562	blood:	n/a	n/a
37	MAX	chr11:18609764-18610853	H1-hESC	embryonic stem cell:	n/a	chr11:18610553-18610560
38	STAT1	chr11:18610048-18610545	GM12878	blood:	n/a	chr11:18610470-18610479 chr11:18610471-18610480
39	ELF1	chr11:18609639-18610765	MCF-7	breast:	n/a	chr11:18610352-18610364 chr11:18610248-18610261
40	POLR2A	chr11:18609616-18610774	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:18609952-18610694	IMR90	lung:	n/a	n/a
42	ZBTB33	chr11:18610047-18610514	HCT-116	colon:	n/a	n/a
43	TAF1	chr11:18610021-18610515	K562	blood:	n/a	n/a
44	POLR2A	chr11:18609943-18610582	HepG2	liver:	n/a	n/a
45	MYC	chr11:18610188-18610491	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:18609667-18610972	HepG2	liver:	n/a	n/a
47	REST	chr11:18610143-18610482	K562	blood:	n/a	chr11:18610351-18610364
48	RFX5	chr11:18610262-18610743	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF3	chr11:18609921-18610632	A549	lung:	n/a	chr11:18610008-18610017
50	CBX3	chr11:18609904-18610654	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18609996..18610733-chr13:28195557..28196494,2	NB4	blood:
2	chr11:18599363..18605712-chr11:18606522..18612149,6	MCF-7	breast:
3	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
4	chr11:18032918..18034516-chr11:18609753..18611706,2	MCF-7	breast:
5	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
6	chr11:18610193..18610780-chr14:20811242..20811842,2	Hela-S3	cervix:
7	chr11:18597269..18603847-chr11:18605648..18613112,11	MCF-7	breast:
8	chr11:18546303..18549278-chr11:18609985..18612598,2	K562	blood:
9	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
10	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:
11	chr11:18548142..18548670-chr11:18609940..18610633,2	MCF-7	breast:
12	chr1:171454647..171455196-chr11:18610341..18611032,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM86A-2	chr11:18610329-18610542	NONHSAT018298

Variant related genes	Relation type
UEVLD	TF binding region
ENSG00000129158	Chromatin interaction
ENSG00000186184	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000117523	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000256282	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000179119	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12790143	1.00[ASN][1000 genomes]
rs12792107	1.00[MEX][hapmap]
rs16935609	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs2121385	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658558	1.00[ASN][1000 genomes]
rs34242612	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56811637	1.00[ASN][1000 genomes]
rs58804032	0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424905	0.83[ASN][1000 genomes]
rs61752314	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110470	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs73422545	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422599	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422601	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424410	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424436	0.83[ASN][1000 genomes]
rs73424437	0.83[ASN][1000 genomes]
rs73424439	0.83[ASN][1000 genomes]
rs73424445	0.83[ASN][1000 genomes]
rs73424447	0.83[ASN][1000 genomes]
rs73424452	0.83[ASN][1000 genomes]
rs73424463	0.83[ASN][1000 genomes]
rs73424468	0.83[ASN][1000 genomes]
rs73424475	0.83[ASN][1000 genomes]
rs7926511	1.00[ASN][1000 genomes]
rs7936497	0.83[ASN][1000 genomes]
rs7936774	1.00[MEX][hapmap]
rs7938645	0.83[ASN][1000 genomes]
rs7942526	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs7951729	0.83[ASN][1000 genomes]
rs8018	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs872872	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs872873	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18608800-18610800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18608800-18610800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:18608800-18610800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr11:18608800-18611000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:18608800-18611000	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:18608800-18611000	Active TSS	HSMMtube	muscle
7	chr11:18608800-18611400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:18608800-18612200	Active TSS	A549	lung
9	chr11:18609000-18610600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:18609000-18611000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:18609000-18611000	Active TSS	Fetal Kidney	kidney
12	chr11:18609000-18611200	Active TSS	NHLF	lung
13	chr11:18609000-18611400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:18609000-18611400	Active TSS	Right Atrium	heart
15	chr11:18609000-18611400	Active TSS	NHDF-Ad	bronchial
16	chr11:18609000-18611800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:18609000-18611800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:18609000-18611800	Active TSS	Fetal Brain Female	brain
19	chr11:18609000-18612000	Active TSS	Colonic Mucosa	Colon
20	chr11:18609200-18610400	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:18609200-18610600	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr11:18609200-18610600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:18609200-18610600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:18609200-18610800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:18609200-18610800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:18609200-18610800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:18609200-18610800	Active TSS	HSMM	muscle
28	chr11:18609200-18610800	Active TSS	NH-A	brain
29	chr11:18609200-18611000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:18609200-18611000	Active TSS	Fetal Intestine Large	intestine
31	chr11:18609200-18611000	Active TSS	HMEC	breast
32	chr11:18609200-18611000	Active TSS	K562	blood
33	chr11:18609200-18611200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:18609200-18611200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:18609200-18611200	Active TSS	Thymus	Thymus
36	chr11:18609200-18611400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:18609200-18611400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:18609200-18611400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:18609200-18611400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr11:18609200-18611400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:18609200-18611400	Active TSS	GM12878-XiMat	blood
42	chr11:18609200-18612000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:18609200-18612000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:18609200-18612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:18609400-18610400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18609400-18610600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:18609400-18610600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:18609400-18610800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:18609400-18610800	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:18609400-18610800	Active TSS	Colon Smooth Muscle	Colon

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