Variant report

Variant	rs200249476
Chromosome Location	chr11:64058709-64058710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr11:64058028-64060943	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr11:64057914-64058973	PANC-1	pancreas:	n/a	n/a
3	CTBP2	chr11:64058361-64059911	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr11:64058325-64060172	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr11:64058675-64059033	SH-SY5Y	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64058704-64058754	NH-A	brain:	n/a
2	chr11:64058704-64058754	HIPEpiC	eye:	n/a
3	chr11:64058704-64058754	Jurkat	blood:	n/a
4	chr11:64058704-64058754	U87	brain:	n/a
5	chr11:64058704-64058754	PANC-1	pancreas:	n/a
6	chr11:64058704-64058754	MCF10A-Er-Src	breast:	n/a
7	chr11:64058704-64058754	PFSK-1	brain:	n/a
8	chr11:64058704-64058754	HRPEpiC	eye:	n/a
9	chr11:64058704-64058754	Hela-S3	cervix:	n/a
10	chr11:64058704-64058754	BE2_C	brain:	n/a
11	chr11:64058704-64058754	GM12892	blood:	n/a
12	chr11:64058704-64058754	NHDF-neo	bronchial:	n/a
13	chr11:64058704-64058754	SK-N-SH	brain:	n/a
14	chr11:64058704-64058754	Hepatocyte	liver:	n/a
15	chr11:64058704-64058754	AG09309	skin:	n/a
16	chr11:64058704-64058754	HepG2	liver:	n/a
17	chr11:64058704-64058754	HUVEC	blood vessel:	n/a
18	chr11:64058704-64058754	K562	blood:	n/a
19	chr11:64058704-64058754	SAEC	small airway:	n/a
20	chr11:64058704-64058754	NT2-D1	testis:	n/a
21	chr11:64058704-64058754	ovcar-3	ovarian:	n/a
22	chr11:64058704-64058754	BJ	skin:	n/a
23	chr11:64058704-64058754	HAEpiC	amniotic membrane:	n/a
24	chr11:64058704-64058754	GM19239	blood:	n/a
25	chr11:64058704-64058754	Caco-2	colon:	n/a
26	chr11:64058704-64058754	HL-60	blood:	n/a
27	chr11:64058704-64058754	SK-N-SH_RA	brain:	n/a
28	chr11:64058704-64058754	HRCEpiC	kidney:	n/a
29	chr11:64058704-64058754	LNCaP	prostate:	n/a
30	chr11:64058704-64058754	HCM	heart:	n/a
31	chr11:64058704-64058754	T-47D	breast:	n/a
32	chr11:64058704-64058754	HNPCEpiC	eye:	n/a
33	chr11:64058704-64058754	GM12878	blood:	n/a
34	chr11:64058704-64058754	NHBE	bronchial:	n/a
35	chr11:64058704-64058754	ProgFib	skin:	n/a
36	chr11:64058704-64058754	AoSMC	blood vessel:	n/a
37	chr11:64058704-64058754	HRE	kidney:	n/a
38	chr11:64058704-64058754	RPTEC	kidney:	n/a
39	chr11:64058704-64058754	A549	lung:	n/a
40	chr11:64058704-64058754	HEEpiC	esophagus:	n/a
41	chr11:64058704-64058754	HEK293	kidney:	embryo
42	chr11:64058704-64058754	AG04450	lung:	fetal
43	chr11:64058704-64058754	GM06990	blood:	n/a
44	chr11:64058704-64058754	HCPEpiC	choroid plexus:	n/a
45	chr11:64058704-64058754	AG04449	skin:	fetal
46	chr11:64058704-64058754	HMEC	breast:	n/a
47	chr11:64058704-64058754	IMR90	lung:	fetal
48	chr11:64058704-64058754	HCT-116	colon:	n/a
49	chr11:64058704-64058754	AG09319	gingival:	n/a
50	chr11:64058704-64058754	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:64028329..64041732-chr11:64049023..64058851,39	MCF-7	breast:
2	chr11:64013225..64015116-chr11:64056938..64059333,2	MCF-7	breast:
3	chr11:64035819..64037712-chr11:64056886..64059211,2	MCF-7	breast:
4	chr11:64058435..64061008-chr11:64080225..64081908,2	K562	blood:
5	chr11:63973628..63976272-chr11:64056827..64059574,2	MCF-7	breast:
6	chr11:64012590..64014829-chr11:64057902..64059525,2	MCF-7	breast:

No data

Variant related genes	Relation type
KCNK4	TF binding region
ENSG00000257069	TF binding region
ENSG00000207024	TF binding region
ENSG00000257069	CpG island
KCNK4	CpG island
ENSG00000207024	CpG island
ENSG00000173457	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000256940	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
25	nsv897684	chr11:64047360-64060976	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
27	nsv897686	chr11:64049021-64072244	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv897687	chr11:64049021-64078380	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
29	esv3399639	chr11:64057076-64061574	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
30	esv3395260	chr11:64058601-64061149	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64054200-64058800	Weak transcription	Ovary	ovary
2	chr11:64054200-64059200	Weak transcription	HSMMtube	muscle
3	chr11:64054400-64058800	Weak transcription	A549	lung
4	chr11:64054600-64058800	Weak transcription	Right Ventricle	heart
5	chr11:64056200-64058800	Weak transcription	Pancreas	Pancrea
6	chr11:64057200-64058800	Weak transcription	Spleen	Spleen
7	chr11:64057800-64059200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr11:64058000-64059000	Bivalent Enhancer	Fetal Brain Male	brain
9	chr11:64058200-64058800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:64058200-64058800	Bivalent Enhancer	Placenta	Placenta
11	chr11:64058200-64060200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:64058200-64061600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:64058400-64058800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr11:64058400-64058800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:64058400-64058800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr11:64058400-64058800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:64058400-64058800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr11:64058400-64058800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr11:64058400-64058800	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:64058400-64058800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr11:64058400-64059000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr11:64058400-64059000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:64058400-64059000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:64058400-64059200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:64058400-64060000	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr11:64058400-64060200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:64058400-64060400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr11:64058400-64060600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:64058600-64058800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:64058600-64058800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:64058600-64058800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr11:64058600-64058800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:64058600-64058800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr11:64058600-64058800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:64058600-64058800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:64058600-64058800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr11:64058600-64058800	Enhancers	Gastric	stomach
38	chr11:64058600-64059000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:64058600-64059000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:64058600-64059000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr11:64058600-64059000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr11:64058600-64059000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:64058600-64059000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr11:64058600-64059000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr11:64058600-64059000	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr11:64058600-64059000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:64058600-64059000	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:64058600-64059000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr11:64058600-64059000	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr11:64058600-64059200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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