Variant report

Variant	rs377083468
Chromosome Location	chr11:67168760-67168761
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67168104-67169411	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr11:67168389-67169149	GM12878	blood:	n/a	chr11:67169002-67169012
3	HCFC1	chr11:67168035-67169985	Hela-S3	cervix:	n/a	n/a
4	RUNX3	chr11:67167938-67169330	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67168533-67169793	IMR90	lung:	n/a	n/a
6	POLR2A	chr11:67168689-67169761	HUVEC	blood vessel:	n/a	n/a
7	CREB1	chr11:67168568-67169662	A549	lung:	n/a	n/a
8	CTCF	chr11:67168660-67168810	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:67168740-67168890	NHDF-neo	bronchial:	n/a	n/a
10	POLR2A	chr11:67168663-67169702	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr11:67168499-67169574	PANC-1	pancreas:	n/a	n/a
12	RUNX3	chr11:67167993-67169938	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67167834-67169939	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr11:67168727-67169663	K562	blood:	n/a	chr11:67168982-67168995
15	JUND	chr11:67168667-67169463	MCF-7	breast:	n/a	n/a
16	TCF3	chr11:67168593-67169351	GM12878	blood:	n/a	n/a
17	EBF1	chr11:67168432-67169322	GM12878	blood:	n/a	chr11:67168833-67168842 chr11:67168832-67168843 chr11:67168833-67168843
18	CTCF	chr11:67168720-67168870	GM06990	blood:	n/a	n/a
19	POLR2A	chr11:67167534-67169401	K562	blood:	n/a	n/a
20	HMGN3	chr11:67168629-67169774	K562	blood:	n/a	n/a
21	UBTF	chr11:67168697-67169042	K562	blood:	n/a	n/a
22	GABPA	chr11:67168615-67169583	K562	blood:	n/a	n/a
23	POLR2A	chr11:67167837-67169829	Hela-S3	cervix:	n/a	n/a
24	PML	chr11:67168306-67169942	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67168632-67169449	A549	lung:	n/a	n/a
26	MTA3	chr11:67167786-67169120	GM12878	blood:	n/a	n/a
27	RAD21	chr11:67168740-67169325	MCF-7	breast:	n/a	chr11:67168886-67168896
28	POLR2A	chr11:67167736-67169762	Hela-S3	cervix:	n/a	n/a
29	MAZ	chr11:67168653-67169761	GM12878	blood:	n/a	n/a
30	MXI1	chr11:67168719-67169319	GM12878	blood:	n/a	n/a
31	CTCF	chr11:67168760-67168910	GM12874	blood:	n/a	n/a
32	POLR2A	chr11:67167585-67169449	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:67168532-67169370	GM12892	blood:	n/a	n/a
34	TAF1	chr11:67168713-67169793	ECC-1	luminal epithelium:	n/a	n/a
35	ELF1	chr11:67168526-67169851	MCF-7	breast:	n/a	n/a
36	MXI1	chr11:67168071-67169848	IMR90	lung:	n/a	n/a
37	POLR2A	chr11:67168758-67169754	HCT-116	colon:	n/a	n/a
38	SIN3AK20	chr11:67167643-67169907	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:67167760-67169388	ECC-1	luminal epithelium:	n/a	n/a
40	TCF12	chr11:67168590-67169102	GM12878	blood:	n/a	chr11:67169060-67169070
41	CHD1	chr11:67167968-67169978	IMR90	lung:	n/a	chr11:67169002-67169012
42	BRCA1	chr11:67168453-67168794	Hela-S3	cervix:	n/a	n/a
43	PAX5	chr11:67168629-67169647	GM12892	blood:	n/a	chr11:67169582-67169591
44	MAZ	chr11:67168406-67169924	IMR90	lung:	n/a	n/a
45	ESRRA	chr11:67168054-67170133	GM12878	blood:	n/a	chr11:67168509-67168528 chr11:67168993-67169006
46	POLR2A	chr11:67168506-67169776	ProgFib	skin:	n/a	n/a
47	POLR2A	chr11:67167790-67169126	A549	lung:	n/a	n/a
48	TBL1XR1	chr11:67168325-67169131	GM12878	blood:	n/a	n/a
49	ELF1	chr11:67168570-67169429	GM12878	blood:	n/a	n/a
50	ZBTB7A	chr11:67168471-67169260	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154155826..154156719-chr11:67168555..67169361,2	Hela-S3	cervix:
2	chr11:67168566..67169398-chr15:72523101..72523869,2	Hela-S3	cervix:
3	chr11:67167428..67170410-chr11:67219775..67221650,2	MCF-7	breast:
4	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
5	chr11:67167945..67169780-chr17:81036626..81038830,2	MCF-7	breast:
6	chr11:67167196..67169719-chr11:67288848..67291954,3	K562	blood:
7	chr11:67168411..67169285-chr15:52860702..52861287,2	Hela-S3	cervix:
8	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
9	chr11:67168546..67169541-chr11:67273014..67274216,5	K562	blood:
10	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
11	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
12	chr11:67168541..67170644-chr11:67250058..67251865,2	MCF-7	breast:
13	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
14	chr11:67167808..67170779-chr11:67274850..67277472,4	MCF-7	breast:
15	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
16	chr11:67077536..67079238-chr11:67167960..67169718,2	K562	blood:
17	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
18	chr11:67168661..67169425-chr16:770592..771488,2	Hela-S3	cervix:
19	chr11:67168670..67169414-chr15:49461835..49462824,2	Hela-S3	cervix:
20	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
21	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:
22	chr11:67168723..67169834-chr11:67273315..67274170,3	MCF-7	breast:
23	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1CA	TF binding region
TBC1D10C	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000103254	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000167791	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000175514	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000176845	Chromatin interaction
ENSG00000128989	Chromatin interaction
ENSG00000172725	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	esv3335687	chr11:67168076-67170524	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
23	esv3439784	chr11:67168201-67170749	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 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	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67167600-67168800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:67167600-67168800	Flanking Active TSS	NH-A	brain
4	chr11:67167600-67169000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:67167600-67169000	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr11:67167800-67168800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:67167800-67168800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:67167800-67168800	Flanking Active TSS	Liver	Liver
9	chr11:67167800-67168800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr11:67167800-67169000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
11	chr11:67167800-67169000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr11:67167800-67169000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr11:67167800-67169000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:67167800-67169800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:67168000-67168800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:67168000-67168800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:67168000-67168800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:67168000-67168800	Flanking Active TSS	Fetal Brain Female	brain
19	chr11:67168000-67168800	Flanking Active TSS	Stomach Mucosa	stomach
20	chr11:67168000-67169000	Flanking Active TSS	Psoas Muscle	Psoas
21	chr11:67168000-67169200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:67168000-67169200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr11:67168000-67169600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:67168000-67169600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:67168000-67169600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:67168000-67169600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:67168000-67169600	Active TSS	Fetal Kidney	kidney
28	chr11:67168000-67169800	Active TSS	Aorta	Aorta
29	chr11:67168200-67168800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:67168200-67168800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:67168200-67168800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:67168200-67168800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:67168200-67168800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr11:67168200-67168800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr11:67168200-67168800	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr11:67168200-67168800	Flanking Active TSS	Placenta	Placenta
37	chr11:67168200-67169000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:67168200-67169600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:67168200-67169600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:67168200-67169600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:67168200-67169600	Active TSS	HSMM	muscle
42	chr11:67168400-67168800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:67168400-67168800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:67168400-67168800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr11:67168400-67168800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:67168400-67168800	Flanking Active TSS	Spleen	Spleen
47	chr11:67168400-67169000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:67168400-67169000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr11:67168400-67169000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:67168400-67169000	Active TSS	Fetal Heart	heart

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