Variant report

Variant	rs376910494
Chromosome Location	chr11:66112171-66112172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66112129-66112958	GM12892	blood:	n/a	n/a
2	CREB1	chr11:66112137-66112943	HepG2	liver:	n/a	n/a
3	CTCF	chr11:66112060-66112210	GM12869	blood:	n/a	n/a
4	CTCF	chr11:66112060-66112210	K562	blood:	n/a	n/a
5	STAT5A	chr11:66112147-66112979	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:66112149-66113014	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:66112077-66112942	K562	blood:	n/a	n/a
8	SIN3AK20	chr11:66111800-66113096	MCF-7	breast:	n/a	n/a
9	MAX	chr11:66112117-66112987	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:66112117-66112956	MCF-7	breast:	n/a	n/a
11	NR2F2	chr11:66111907-66112864	K562	blood:	n/a	n/a
12	POLR2A	chr11:66112101-66112960	MCF-7	breast:	n/a	n/a
13	TCF12	chr11:66111978-66113081	A549	lung:	n/a	chr11:66112837-66112844 chr11:66112242-66112252
14	ATF1	chr11:66112091-66112831	K562	blood:	n/a	n/a
15	POLR2A	chr11:66112086-66113073	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:66111924-66113004	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr11:66112160-66112904	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr11:66112000-66113023	H1-hESC	embryonic stem cell:	n/a	chr11:66112010-66112024
19	CREB1	chr11:66112007-66112966	K562	blood:	n/a	n/a
20	REST	chr11:66111868-66113143	H1-neurons	neurons:	n/a	chr11:66112807-66112820 chr11:66112005-66112025 chr11:66112006-66112024
21	MAZ	chr11:66112108-66112896	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:66112102-66113081	U87	brain:	n/a	n/a
23	POLR2A	chr11:66112141-66112939	MCF10A-Er-Src	breast:	n/a	n/a
24	SRF	chr11:66112091-66113109	HCT-116	colon:	n/a	n/a
25	ELF1	chr11:66112049-66112989	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:66112160-66112924	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:66112133-66112859	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:66112164-66112944	HUVEC	blood vessel:	n/a	n/a
29	MXI1	chr11:66111872-66113233	IMR90	lung:	n/a	chr11:66112666-66112681
30	MAX	chr11:66112083-66112877	A549	lung:	n/a	n/a
31	ELF1	chr11:66112130-66112847	K562	blood:	n/a	n/a
32	ELF1	chr11:66111978-66112967	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:66112084-66113094	SK-N-MC	brain:	n/a	n/a
34	SIN3AK20	chr11:66112063-66112995	PANC-1	pancreas:	n/a	n/a
35	MAFK	chr11:66111970-66112179	K562	blood:	n/a	n/a
36	MXI1	chr11:66111999-66112946	GM12878	blood:	n/a	chr11:66112666-66112681
37	PML	chr11:66111993-66113055	GM12878	blood:	n/a	n/a
38	YY1	chr11:66112073-66112913	GM12892	blood:	n/a	chr11:66112249-66112260 chr11:66112762-66112770
39	MAX	chr11:66112072-66112868	GM12878	blood:	n/a	n/a
40	MXI1	chr11:66111866-66113207	SK-N-SH	brain:	n/a	chr11:66112666-66112681
41	ETS1	chr11:66112169-66112993	A549	lung:	n/a	chr11:66112266-66112279
42	TAF1	chr11:66112112-66112984	A549	lung:	n/a	n/a
43	CREB1	chr11:66112145-66113004	A549	lung:	n/a	n/a
44	ELF1	chr11:66112153-66113083	GM12878	blood:	n/a	n/a
45	MAX	chr11:66112111-66112872	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr11:66112029-66113116	A549	lung:	n/a	n/a
47	POLR2A	chr11:66112004-66112915	GM12891	blood:	n/a	n/a
48	MAFK	chr11:66112044-66112179	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr11:66111980-66112863	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr11:66112170-66113057	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66112147-66112197	HCT-116	colon:	n/a
2	chr11:66112147-66112197	HRE	kidney:	n/a
3	chr11:66112147-66112197	AG09309	skin:	n/a
4	chr11:66112147-66112197	SAEC	small airway:	n/a
5	chr11:66112147-66112197	MCF10A-Er-Src	breast:	n/a
6	chr11:66112147-66112197	MCF-7	breast:	n/a
7	chr11:66112147-66112197	PANC-1	pancreas:	n/a
8	chr11:66112147-66112197	GM12878	blood:	n/a
9	chr11:66112147-66112197	HRPEpiC	eye:	n/a
10	chr11:66112147-66112197	PrEC	prostate:	n/a
11	chr11:66112147-66112197	NHDF-neo	bronchial:	n/a
12	chr11:66112147-66112197	HUVEC	blood vessel:	n/a
13	chr11:66112147-66112197	BJ	skin:	n/a
14	chr11:66112147-66112197	HCF	heart:	n/a
15	chr11:66112147-66112197	PFSK-1	brain:	n/a
16	chr11:66112147-66112197	HCM	heart:	n/a
17	chr11:66112147-66112197	A549	lung:	n/a
18	chr11:66112147-66112197	LNCaP	prostate:	n/a
19	chr11:66112147-66112197	HRCEpiC	kidney:	n/a
20	chr11:66112147-66112197	IMR90	lung:	fetal
21	chr11:66112147-66112197	ECC-1	luminal epithelium:	n/a
22	chr11:66112147-66112197	GM06990	blood:	n/a
23	chr11:66112147-66112197	Hela-S3	cervix:	n/a
24	chr11:66112147-66112197	K562	blood:	n/a
25	chr11:66112147-66112197	NT2-D1	testis:	n/a
26	chr11:66112147-66112197	NH-A	brain:	n/a
27	chr11:66112147-66112197	HNPCEpiC	eye:	n/a
28	chr11:66112147-66112197	HCPEpiC	choroid plexus:	n/a
29	chr11:66112147-66112197	AG09319	gingival:	n/a
30	chr11:66112147-66112197	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:66112147-66112197	H1-hESC	embryonic stem cell:	embryo
32	chr11:66112147-66112197	T-47D	breast:	n/a
33	chr11:66112147-66112197	AG04450	lung:	fetal
34	chr11:66112147-66112197	NHBE	bronchial:	n/a
35	chr11:66112147-66112197	Caco-2	colon:	n/a
36	chr11:66112147-66112197	SK-N-SH_RA	brain:	n/a
37	chr11:66112147-66112197	HepG2	liver:	n/a
38	chr11:66112147-66112197	RPTEC	kidney:	n/a
39	chr11:66112147-66112197	SK-N-MC	brain:	n/a
40	chr11:66112147-66112197	ProgFib	skin:	n/a
41	chr11:66112147-66112197	HEEpiC	esophagus:	n/a
42	chr11:66112147-66112197	HMEC	breast:	n/a
43	chr11:66112147-66112197	HAEpiC	amniotic membrane:	n/a
44	chr11:66112147-66112197	U87	brain:	n/a
45	chr11:66112147-66112197	CMK	blood:	n/a
46	chr11:66112147-66112197	AG04449	skin:	fetal
47	chr11:66112147-66112197	HL-60	blood:	n/a
48	chr11:66112147-66112197	SK-N-SH	brain:	n/a
49	chr11:66112147-66112197	SKMC	muscle:	n/a
50	chr11:66112147-66112197	GM12892	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66108839..66110813-chr11:66110934..66112585,3	K562	blood:
2	chr11:66084372..66086380-chr11:66109864..66112582,2	MCF-7	breast:
3	chr11:66043530..66045792-chr11:66110035..66112602,2	MCF-7	breast:
4	chr11:65625352..65628744-chr11:66111177..66113723,3	K562	blood:
5	chr11:65850193..65852902-chr11:66111593..66113196,2	MCF-7	breast:
6	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
7	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
8	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
9	chr11:66111080..66113877-chr17:56707692..56710441,2	MCF-7	breast:
10	chr11:66077296..66081246-chr11:66109722..66112526,4	K562	blood:
11	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
12	chr11:66079011..66083261-chr11:66109999..66114385,7	MCF-7	breast:
13	chr11:66111992..66114342-chr11:66382242..66384308,3	MCF-7	breast:

No data

Variant related genes	Relation type
BRMS1	TF binding region
ENSG00000255468	TF binding region
BRMS1	CpG island
ENSG00000255468	CpG island
ENSG00000174669	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000179292	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr11:66111200-66112200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:66111200-66112200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:66111200-66112200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:66111200-66112200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr11:66111200-66112200	Flanking Active TSS	Hela-S3	cervix
6	chr11:66111200-66112400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:66111200-66112400	Flanking Active TSS	Colonic Mucosa	Colon
8	chr11:66111200-66113000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:66111200-66115000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:66111400-66112200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr11:66111400-66112200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:66111400-66112200	Flanking Active TSS	Dnd41	blood
13	chr11:66111400-66112400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:66111400-66112400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:66111400-66112600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:66111400-66113000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:66111400-66113000	Active TSS	A549	lung
18	chr11:66111400-66113000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:66111400-66113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:66111600-66112200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:66111600-66112200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:66111600-66112200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:66111600-66112200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:66111600-66112200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:66111600-66112200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:66111600-66112200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr11:66111600-66112200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:66111600-66112200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:66111600-66112200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:66111600-66112200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:66111600-66112200	Flanking Active TSS	Fetal Brain Male	brain
32	chr11:66111600-66112200	Flanking Active TSS	Fetal Brain Female	brain
33	chr11:66111600-66112200	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr11:66111600-66112200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:66111600-66112200	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr11:66111600-66112200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:66111600-66112200	Flanking Active TSS	HSMM	muscle
38	chr11:66111600-66112200	Flanking Active TSS	HUVEC	blood vessel
39	chr11:66111600-66112200	Flanking Active TSS	NH-A	brain
40	chr11:66111600-66112200	Flanking Active TSS	Osteobl	bone
41	chr11:66111600-66112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:66111600-66112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:66111600-66113000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:66111600-66113000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:66111600-66113000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr11:66111600-66113000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr11:66111600-66113000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:66111600-66113200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:66111600-66113200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr11:66111600-66114600	Active TSS	HUES48 Cell Line	embryonic stem cell

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