Variant report

Variant	rs76845349
Chromosome Location	chr11:64059921-64059922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 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	SUZ12	chr11:64058751-64061073	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr11:64058325-64060172	SK-N-SH	brain:	n/a	n/a
4	REST	chr11:64059157-64059995	H1-neurons	neurons:	n/a	chr11:64059816-64059829 chr11:64059881-64059894
5	POLR2A	chr11:64058881-64059938	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:64058882-64060134	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64059916-64059966	MCF10A-Er-Src	breast:	n/a
2	chr11:64059916-64059966	Hela-S3	cervix:	n/a
3	chr11:64059916-64059966	AG09309	skin:	n/a
4	chr11:64059916-64059966	HCM	heart:	n/a
5	chr11:64059916-64059966	GM12878	blood:	n/a
6	chr11:64059916-64059966	GM19239	blood:	n/a
7	chr11:64059916-64059966	NH-A	brain:	n/a
8	chr11:64059916-64059966	NHBE	bronchial:	n/a
9	chr11:64059916-64059966	U87	brain:	n/a
10	chr11:64059916-64059966	SK-N-SH	brain:	n/a
11	chr11:64059916-64059966	HCPEpiC	choroid plexus:	n/a
12	chr11:64059916-64059966	AG04449	skin:	fetal
13	chr11:64059916-64059966	LNCaP	prostate:	n/a
14	chr11:64059916-64059966	ProgFib	skin:	n/a
15	chr11:64059916-64059966	HNPCEpiC	eye:	n/a
16	chr11:64059916-64059966	HMEC	breast:	n/a
17	chr11:64059916-64059966	PrEC	prostate:	n/a
18	chr11:64059916-64059966	PANC-1	pancreas:	n/a
19	chr11:64059916-64059966	HCF	heart:	n/a
20	chr11:64059916-64059966	AoSMC	blood vessel:	n/a
21	chr11:64059916-64059966	K562	blood:	n/a
22	chr11:64059916-64059966	HCT-116	colon:	n/a
23	chr11:64059916-64059966	IMR90	lung:	fetal
24	chr11:64059916-64059966	HepG2	liver:	n/a
25	chr11:64059916-64059966	HEK293	kidney:	embryo
26	chr11:64059916-64059966	SK-N-SH_RA	brain:	n/a
27	chr11:64059916-64059966	PFSK-1	brain:	n/a
28	chr11:64059916-64059966	HL-60	blood:	n/a
29	chr11:64059916-64059966	SAEC	small airway:	n/a
30	chr11:64059916-64059966	SK-N-MC	brain:	n/a
31	chr11:64059916-64059966	Jurkat	blood:	n/a
32	chr11:64059916-64059966	MCF-7	breast:	n/a
33	chr11:64059916-64059966	A549	lung:	n/a
34	chr11:64059916-64059966	HRPEpiC	eye:	n/a
35	chr11:64059916-64059966	RPTEC	kidney:	n/a
36	chr11:64059916-64059966	H1-hESC	embryonic stem cell:	embryo
37	chr11:64059916-64059966	NT2-D1	testis:	n/a
38	chr11:64059916-64059966	BE2_C	brain:	n/a
39	chr11:64059916-64059966	HUVEC	blood vessel:	n/a
40	chr11:64059916-64059966	NB4	blood:	n/a
41	chr11:64059916-64059966	AG09319	gingival:	n/a
42	chr11:64059916-64059966	Hepatocyte	liver:	n/a
43	chr11:64059916-64059966	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:64059916-64059966	ovcar-3	ovarian:	n/a
45	chr11:64059916-64059966	GM12892	blood:	n/a
46	chr11:64059916-64059966	BJ	skin:	n/a
47	chr11:64059916-64059966	HEEpiC	esophagus:	n/a
48	chr11:64059916-64059966	GM12891	blood:	n/a
49	chr11:64059916-64059966	HRCEpiC	kidney:	n/a
50	chr11:64059916-64059966	ECC-1	luminal epithelium:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
2	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
3	chr11:64013373..64015770-chr11:64059905..64062431,2	MCF-7	breast:
4	chr11:64058435..64061008-chr11:64080225..64081908,2	K562	blood:

No data

Variant related genes	Relation type
KCNK4	TF binding region
ENSG00000207024	TF binding region
ENSG00000207024	CpG island
KCNK4	CpG island
ENSG00000173153	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000002330	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64058200-64060200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:64058200-64061600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:64058400-64060000	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr11:64058400-64060200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:64058400-64060400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:64058400-64060600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:64058600-64060200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:64058600-64060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:64058600-64060200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:64058600-64060400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr11:64058600-64063200	Weak transcription	Hela-S3	cervix
12	chr11:64058800-64060000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:64058800-64060000	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr11:64058800-64060000	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:64058800-64060000	Flanking Active TSS	Right Ventricle	heart
16	chr11:64058800-64060000	Enhancers	Spleen	Spleen
17	chr11:64058800-64060200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr11:64058800-64060200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:64058800-64060200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:64058800-64060200	Enhancers	Liver	Liver
21	chr11:64058800-64060200	Enhancers	Pancreas	Pancrea
22	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:64058800-64060400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr11:64058800-64060400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:64058800-64060400	Active TSS	Brain Angular Gyrus	brain
27	chr11:64058800-64060400	Active TSS	Brain Anterior Caudate	brain
28	chr11:64058800-64060400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:64059000-64060000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:64059000-64060000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:64059000-64060200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:64059000-64060200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr11:64059000-64060200	Bivalent/Poised TSS	HepG2	liver
34	chr11:64059000-64060400	Bivalent Enhancer	Placenta	Placenta
35	chr11:64059200-64060000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:64059200-64060000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:64059200-64060000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:64059200-64060000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr11:64059200-64060000	Bivalent/Poised TSS	HSMM	muscle
40	chr11:64059200-64060200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:64059200-64060200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:64059200-64060200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr11:64059200-64060200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr11:64059200-64060200	Enhancers	Fetal Heart	heart
45	chr11:64059200-64060200	Enhancers	Gastric	stomach
46	chr11:64059200-64060200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr11:64059200-64060200	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr11:64059200-64060400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:64059200-64060400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr11:64059200-64060400	Bivalent Enhancer	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links