Variant report

Variant	rs67649252
Chromosome Location	chr11:76340395-76340396
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr11:76340225-76341036	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:76340349-76340908	GM12891	blood:	n/a	n/a
3	MAX	chr11:76340126-76340992	NB4	blood:	n/a	n/a
4	POLR2A	chr11:76340316-76340976	HUVEC	blood vessel:	n/a	n/a
5	ELF1	chr11:76340199-76341601	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:76339446-76342097	HUVEC	blood vessel:	n/a	n/a
7	CHD2	chr11:76340293-76341637	GM12878	blood:	n/a	n/a
8	MAX	chr11:76340260-76340997	HUVEC	blood vessel:	n/a	n/a
9	CREB1	chr11:76340364-76341077	GM12878	blood:	n/a	n/a
10	ZNF143	chr11:76340135-76340440	GM12878	blood:	n/a	chr11:76340249-76340264
11	POLR2A	chr11:76340247-76340946	GM12891	blood:	n/a	n/a
12	MYC	chr11:76340227-76341671	NB4	blood:	n/a	chr11:76341321-76341330
13	POLR2A	chr11:76340041-76341974	HUVEC	blood vessel:	n/a	n/a
14	USF1	chr11:76340148-76340428	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:76340264-76341068	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:76340387-76341005	GM12892	blood:	n/a	n/a
17	PML	chr11:76340231-76341075	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76337563..76340451-chr11:76340690..76342431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255479	TF binding region
ENSG00000255363	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11236816	0.94[ASN][1000 genomes]
rs1939465	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58783758	0.94[ASN][1000 genomes]
rs73497463	0.94[ASN][1000 genomes]
rs73497464	0.94[ASN][1000 genomes]
rs73497467	0.94[ASN][1000 genomes]
rs7949206	0.92[ASN][1000 genomes]
rs947999	0.94[ASN][1000 genomes]
rs948000	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76328600-76340400	Weak transcription	Right Atrium	heart
2	chr11:76332000-76340400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:76334000-76341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:76334200-76340400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:76336600-76340600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:76336600-76341200	Weak transcription	K562	blood
7	chr11:76337200-76342200	Enhancers	Primary B cells from cord blood	blood
8	chr11:76337400-76341800	Enhancers	Spleen	Spleen
9	chr11:76337400-76342000	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:76337600-76340800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:76337600-76341000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:76337600-76341600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:76337600-76342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:76337600-76342600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:76337800-76340400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:76337800-76342000	Enhancers	Fetal Thymus	thymus
17	chr11:76337800-76342200	Enhancers	Placenta	Placenta
18	chr11:76338000-76340400	Enhancers	Adipose Nuclei	Adipose
19	chr11:76338000-76341200	Enhancers	GM12878-XiMat	blood
20	chr11:76338200-76340800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:76338200-76341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:76338200-76341200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:76338400-76340400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:76338400-76340400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:76338400-76340400	Weak transcription	NH-A	brain
26	chr11:76338400-76341000	Weak transcription	Aorta	Aorta
27	chr11:76338600-76340800	Weak transcription	Osteobl	bone
28	chr11:76338600-76341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:76338800-76341200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:76338800-76341200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:76338800-76341600	Enhancers	Lung	lung
32	chr11:76339000-76340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:76339000-76340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:76339000-76340800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:76339400-76342000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr11:76339400-76342600	Enhancers	Left Ventricle	heart
37	chr11:76339600-76342600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:76339800-76341000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr11:76339800-76341200	Enhancers	Colonic Mucosa	Colon
40	chr11:76339800-76341200	Enhancers	Fetal Intestine Small	intestine
41	chr11:76339800-76342000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:76339800-76342600	Enhancers	Fetal Stomach	stomach
43	chr11:76339800-76342800	Enhancers	Fetal Muscle Leg	muscle
44	chr11:76340000-76341600	Enhancers	NHLF	lung
45	chr11:76340000-76342000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:76340000-76343800	Enhancers	HUVEC	blood vessel
47	chr11:76340200-76340600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:76340200-76341200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:76340200-76341200	Enhancers	Brain Hippocampus Middle	brain
50	chr11:76340200-76341400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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