Variant report

Variant	rs147337449
Chromosome Location	chr11:63995001-63995002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63992736-63995293	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:63989232-63995299	K562	blood:	n/a	n/a
3	POLR2A	chr11:63989880-63995323	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:63991343-63995010	U87	brain:	n/a	n/a
5	MTA3	chr11:63991287-63995175	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:63994928-63995017	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:63991516-63995277	Raji	blood:	n/a	n/a
8	POLR2A	chr11:63991337-63995010	U87	brain:	n/a	n/a
9	POLR2A	chr11:63990068-63995245	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:63989981-63995376	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:63994977-63995307	U87	brain:	n/a	n/a
12	POLR2A	chr11:63994688-63995146	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:63994802-63995393	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:63989888-63995214	K562	blood:	n/a	n/a
15	NFIC	chr11:63994918-63995422	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:63989222-63995360	K562	blood:	n/a	n/a
17	POLR2A	chr11:63992581-63995191	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:63990003-63995334	GM12878	blood:	n/a	n/a
19	NFIC	chr11:63994897-63995429	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:63991315-63995336	K562	blood:	n/a	n/a
21	POLR2A	chr11:63989877-63995038	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:63992238-63995225	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr11:63994692-63995294	HCT-116	colon:	n/a	n/a
24	POLR2A	chr11:63994886-63995141	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:63990003-63995208	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63932568..63935141-chr11:63993755..63995910,2	MCF-7	breast:
2	chr11:63994977..63999244-chr11:64052371..64054935,4	MCF-7	breast:
3	chr11:63990938..63995618-chr11:64068467..64075569,11	MCF-7	breast:
4	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
5	chr11:63994757..64000133-chr11:64050787..64054663,5	MCF-7	breast:
6	chr11:63951654..63956341-chr11:63991514..63996131,9	MCF-7	breast:

No data

Variant related genes	Relation type
NUDT22	TF binding region
TRPT1	TF binding region
DNAJC4	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000219435	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised 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	155 gene(s)	inside rSNPs	diseases
13	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
14	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
25	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
26	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
27	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
28	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
29	nsv897673	chr11:63991581-64018687	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
30	esv992196	chr11:63992534-64002355	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
31	nsv897674	chr11:63994692-64006292	Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
32	nsv897675	chr11:63994692-64018687	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
33	nsv897676	chr11:63994692-64022459	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
34	nsv897677	chr11:63994692-64023971	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
35	nsv897678	chr11:63994692-64026144	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
36	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 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	chr11:63992400-63995200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:63992600-63995200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:63992600-63995200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:63992600-63995400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:63992800-63995200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:63992800-63995200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:63993000-63995200	Active TSS	Fetal Kidney	kidney
8	chr11:63993000-63995200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:63993000-63995400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:63993200-63995200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:63993200-63995400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:63993600-63995400	Enhancers	Fetal Heart	heart
13	chr11:63993800-63995200	Flanking Active TSS	Fetal Thymus	thymus
14	chr11:63993800-63995400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:63994000-63995200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:63994000-63995200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:63994000-63995200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:63994000-63995200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr11:63994000-63995200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:63994000-63995200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:63994000-63995200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:63994000-63995200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:63994000-63995200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:63994000-63995200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:63994000-63995200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr11:63994000-63995200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:63994000-63995200	Flanking Active TSS	Colonic Mucosa	Colon
28	chr11:63994000-63995200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:63994000-63995200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr11:63994000-63995200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr11:63994000-63995200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr11:63994000-63995200	Flanking Active TSS	NH-A	brain
33	chr11:63994000-63995400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:63994000-63995400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:63994000-63995400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:63994000-63995400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:63994000-63995400	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr11:63994000-63995400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr11:63994000-63995400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:63994000-63995400	Flanking Active TSS	Dnd41	blood
41	chr11:63994000-63995400	Flanking Active TSS	Hela-S3	cervix
42	chr11:63994000-63995400	Flanking Active TSS	HMEC	breast
43	chr11:63994000-63995400	Flanking Active TSS	Osteobl	bone
44	chr11:63994200-63995200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:63994200-63995200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:63994200-63995200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:63994200-63995200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:63994200-63995200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr11:63994200-63995200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr11:63994200-63995200	Flanking Active TSS	Colon Smooth Muscle	Colon

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