Variant report

Variant	rs187704608
Chromosome Location	chr11:66036435-66036436
allele	C/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	SIN3AK20	chr11:66036321-66036613	A549	lung:	n/a	n/a
2	ELF1	chr11:66035677-66036535	HepG2	liver:	n/a	chr11:66036302-66036313 chr11:66036137-66036149 chr11:66036302-66036313 chr11:66035933-66035945 chr11:66036141-66036150 chr11:66035932-66035941 chr11:66036138-66036147
3	BCLAF1	chr11:66036316-66036662	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:66036302-66036552	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:66036305-66036584	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:66036324-66036502	HepG2	liver:	n/a	n/a
7	YY1	chr11:66035678-66036603	GM12892	blood:	n/a	chr11:66036138-66036149 chr11:66036081-66036093 chr11:66036082-66036104 chr11:66036133-66036147 chr11:66036135-66036144 chr11:66036081-66036097 chr11:66036136-66036150 chr11:66036138-66036147 chr11:66036080-66036097 chr11:66036135-66036149 chr11:66036141-66036150 chr11:66036080-66036099
8	POLR2A	chr11:66035220-66036806	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:66034874-66036791	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:66035613-66036607	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:66034829-66037009	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:66034740-66036563	SK-N-MC	brain:	n/a	n/a
13	TBP	chr11:66035694-66036667	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:66034696-66036576	PFSK-1	brain:	n/a	n/a
15	ZNF143	chr11:66035151-66036557	K562	blood:	n/a	chr11:66036316-66036334 chr11:66035891-66035910 chr11:66035887-66035905
16	CTCF	chr11:66036360-66036510	GM12871	blood:	n/a	chr11:66036390-66036399
17	NR2F2	chr11:66036298-66036883	K562	blood:	n/a	n/a
18	POLR2A	chr11:66035492-66037014	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:66035752-66036486	MCF-7	breast:	n/a	n/a
20	MXI1	chr11:66034915-66036527	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:66036315-66036861	GM12891	blood:	n/a	n/a
22	SIN3AK20	chr11:66036326-66036615	HepG2	liver:	n/a	n/a
23	ETS1	chr11:66035122-66036533	A549	lung:	n/a	chr11:66036174-66036185 chr11:66036138-66036149 chr11:66035886-66035899
24	POLR2A	chr11:66034779-66036918	K562	blood:	n/a	n/a
25	ZNF143	chr11:66034867-66036663	GM12878	blood:	n/a	chr11:66036316-66036334 chr11:66035891-66035910 chr11:66035887-66035905
26	POLR2A	chr11:66034783-66036668	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:66034867-66036724	GM19193	blood:	n/a	n/a
28	HEY1	chr11:66035436-66036592	HepG2	liver:	n/a	chr11:66036134-66036149
29	YY1	chr11:66035713-66036499	GM12891	blood:	n/a	chr11:66036138-66036149 chr11:66036081-66036093 chr11:66036082-66036104 chr11:66036133-66036147 chr11:66036135-66036144 chr11:66036081-66036097 chr11:66036136-66036150 chr11:66036138-66036147 chr11:66036080-66036097 chr11:66036135-66036149 chr11:66036141-66036150 chr11:66036080-66036099
30	MAZ	chr11:66035643-66036472	Hela-S3	cervix:	n/a	chr11:66036294-66036304
31	POLR2A	chr11:66035051-66036559	HepG2	liver:	n/a	n/a
32	ETS1	chr11:66035589-66036453	K562	blood:	n/a	chr11:66036174-66036185 chr11:66036138-66036149 chr11:66035886-66035899
33	SIX5	chr11:66035302-66036471	A549	lung:	n/a	chr11:66035885-66035899 chr11:66035682-66035696
34	POLR2A	chr11:66034798-66036881	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr11:66033899-66037453	IMR90	lung:	n/a	chr11:66036317-66036327
36	POLR2A	chr11:66034636-66037174	U87	brain:	n/a	n/a
37	ELK1	chr11:66035761-66036498	GM12878	blood:	n/a	n/a
38	YY1	chr11:66035728-66036475	SK-N-SH	brain:	n/a	chr11:66036138-66036149 chr11:66036081-66036093 chr11:66036082-66036104 chr11:66036133-66036147 chr11:66036135-66036144 chr11:66036081-66036097 chr11:66036136-66036150 chr11:66036138-66036147 chr11:66036080-66036097 chr11:66036135-66036149 chr11:66036141-66036150 chr11:66036080-66036099
39	HEY1	chr11:66036292-66036531	K562	blood:	n/a	n/a
40	YY1	chr11:66035590-66036490	HCT-116	colon:	n/a	chr11:66036138-66036149 chr11:66036081-66036093 chr11:66036082-66036104 chr11:66036133-66036147 chr11:66036135-66036144 chr11:66036081-66036097 chr11:66036136-66036150 chr11:66036138-66036147 chr11:66036080-66036097 chr11:66036135-66036149 chr11:66036141-66036150 chr11:66036080-66036099
41	MAZ	chr11:66035754-66036497	HepG2	liver:	n/a	chr11:66036294-66036304
42	ELF1	chr11:66034707-66036901	GM12878	blood:	n/a	chr11:66036302-66036313 chr11:66036137-66036149 chr11:66036302-66036313 chr11:66035933-66035945 chr11:66036141-66036150 chr11:66035932-66035941 chr11:66036138-66036147
43	POLR2A	chr11:66034530-66037226	HUVEC	blood vessel:	n/a	n/a
44	MYC	chr11:66034780-66036529	K562	blood:	n/a	chr11:66036294-66036304
45	MAZ	chr11:66034791-66037094	GM12878	blood:	n/a	chr11:66036294-66036304
46	TAF1	chr11:66036305-66036563	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr11:66035661-66036486	ECC-1	luminal epithelium:	n/a	n/a
48	STAT5A	chr11:66034710-66036667	GM12878	blood:	n/a	chr11:66036312-66036324 chr11:66036001-66036010 chr11:66035996-66036016 chr11:66036002-66036010 chr11:66035999-66036013 chr11:66036002-66036011
49	ZBTB7A	chr11:66034918-66036660	ECC-1	luminal epithelium:	n/a	chr11:66035358-66035366 chr11:66035359-66035367
50	BHLHE40	chr11:66036399-66036593	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65624882..65627968-chr11:66034504..66038316,6	K562	blood:
2	chr11:66036063..66037921-chr11:66134364..66136433,2	K562	blood:
3	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
4	chr11:65625132..65628506-chr11:66035169..66036764,3	K562	blood:
5	chr11:65728121..65730647-chr11:66035766..66038196,2	MCF-7	breast:
6	chr11:66035942..66036615-chr19:8578822..8579342,2	HCT-116	colon:
7	chr11:65666389..65668880-chr11:66033377..66036542,3	K562	blood:
8	chr11:66025383..66026303-chr11:66034980..66036455,5	K562	blood:
9	chr11:65657107..65659864-chr11:66036057..66038289,3	MCF-7	breast:
10	chr11:65655875..65658695-chr11:66035091..66037770,2	MCF-7	breast:
11	chr11:66035942..66036494-chr15:41576128..41576906,2	Hela-S3	cervix:
12	chr11:65998798..66000841-chr11:66035751..66037263,2	K562	blood:
13	chr1:65885913..65886852-chr11:66036167..66036667,2	Hela-S3	cervix:
14	chr11:66036265..66039186-chr11:66074799..66077052,2	MCF-7	breast:
15	chr11:65624298..65626384-chr11:66036037..66037653,2	MCF-7	breast:
16	chr11:66035212..66038142-chr11:66136666..66139462,2	MCF-7	breast:
17	chr11:66034904..66037277-chr17:57914562..57916871,2	MCF-7	breast:
18	chr11:66035609..66037495-chr11:66113505..66115336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254762	TF binding region
ENSG00000254855	TF binding region
ENSG00000116678	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000247556	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000133250	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000213625	Chromatin interaction
ENSG00000179292	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175592	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv825955	chr11:66035970-66036506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 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	chr11:66034400-66036800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:66034400-66037000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:66034400-66037000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:66034400-66037000	Active TSS	Fetal Kidney	kidney
5	chr11:66034400-66037200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:66034600-66036600	Active TSS	Placenta Amnion	Placenta Amnion
7	chr11:66034600-66036800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:66034600-66037000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:66034600-66037000	Active TSS	Brain Anterior Caudate	brain
10	chr11:66034600-66037000	Active TSS	Colon Smooth Muscle	Colon
11	chr11:66034600-66037000	Active TSS	Fetal Lung	lung
12	chr11:66034600-66037000	Active TSS	Left Ventricle	heart
13	chr11:66034600-66037200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:66034600-66037200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:66034600-66037200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:66034600-66037200	Active TSS	Aorta	Aorta
17	chr11:66034600-66037200	Active TSS	Ovary	ovary
18	chr11:66034600-66037400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:66034800-66036600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:66034800-66036600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:66034800-66036600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:66034800-66036600	Active TSS	Brain Germinal Matrix	brain
23	chr11:66034800-66036600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:66034800-66036600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr11:66034800-66036600	Active TSS	Fetal Brain Male	brain
26	chr11:66034800-66036600	Active TSS	Fetal Intestine Small	intestine
27	chr11:66034800-66036800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:66034800-66036800	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:66034800-66036800	Active TSS	Brain Angular Gyrus	brain
30	chr11:66034800-66036800	Active TSS	Brain Hippocampus Middle	brain
31	chr11:66034800-66036800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:66034800-66036800	Active TSS	Brain Substantia Nigra	brain
33	chr11:66034800-66036800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:66034800-66036800	Active TSS	Fetal Brain Female	brain
35	chr11:66034800-66036800	Active TSS	Fetal Stomach	stomach
36	chr11:66034800-66036800	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:66034800-66036800	Active TSS	Spleen	Spleen
38	chr11:66034800-66037000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:66034800-66037000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:66034800-66037000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:66034800-66037000	Active TSS	Gastric	stomach
42	chr11:66034800-66037000	Active TSS	Right Ventricle	heart
43	chr11:66034800-66037000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr11:66034800-66037000	Active TSS	HSMM	muscle
45	chr11:66034800-66037000	Active TSS	HSMMtube	muscle
46	chr11:66034800-66037000	Active TSS	K562	blood
47	chr11:66034800-66037000	Active TSS	NHDF-Ad	bronchial
48	chr11:66034800-66037200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:66034800-66037200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:66034800-66037200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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