Variant report

Variant	rs116069807
Chromosome Location	chr2:11447186-11447187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:11447005-11447205	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11447160-11447210	AG09309	skin:	n/a
2	chr2:11447160-11447210	HRCEpiC	kidney:	n/a
3	chr2:11447160-11447210	AG10803	skin:	n/a
4	chr2:11447160-11447210	GM19239	blood:	n/a
5	chr2:11447160-11447210	LNCaP	prostate:	n/a
6	chr2:11447160-11447210	GM12892	blood:	n/a
7	chr2:11447160-11447210	SK-N-SH_RA	brain:	n/a
8	chr2:11447160-11447210	AG09319	gingival:	n/a
9	chr2:11447160-11447210	NT2-D1	testis:	n/a
10	chr2:11447160-11447210	ovcar-3	ovarian:	n/a
11	chr2:11447160-11447210	ProgFib	skin:	n/a
12	chr2:11447160-11447210	NB4	blood:	n/a
13	chr2:11447160-11447210	GM06990	blood:	n/a
14	chr2:11447160-11447210	K562	blood:	n/a
15	chr2:11447160-11447210	NHDF-neo	bronchial:	n/a
16	chr2:11447160-11447210	AG04450	lung:	fetal
17	chr2:11447160-11447210	HL-60	blood:	n/a
18	chr2:11447160-11447210	BJ	skin:	n/a
19	chr2:11447160-11447210	ECC-1	luminal epithelium:	n/a
20	chr2:11447160-11447210	SK-N-MC	brain:	n/a
21	chr2:11447160-11447210	CMK	blood:	n/a
22	chr2:11447160-11447210	IMR90	lung:	fetal
23	chr2:11447160-11447210	MCF-7	breast:	n/a
24	chr2:11447160-11447210	AG04449	skin:	fetal
25	chr2:11447160-11447210	HEEpiC	esophagus:	n/a
26	chr2:11447160-11447210	HUVEC	blood vessel:	n/a
27	chr2:11447160-11447210	AoSMC	blood vessel:	n/a
28	chr2:11447160-11447210	U87	brain:	n/a
29	chr2:11447160-11447210	HCT-116	colon:	n/a
30	chr2:11447160-11447210	A549	lung:	n/a
31	chr2:11447160-11447210	SKMC	muscle:	n/a
32	chr2:11447160-11447210	PANC-1	pancreas:	n/a
33	chr2:11447160-11447210	GM12891	blood:	n/a
34	chr2:11447160-11447210	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:11447160-11447210	SAEC	small airway:	n/a
36	chr2:11447160-11447210	HCM	heart:	n/a
37	chr2:11447160-11447210	RPTEC	kidney:	n/a
38	chr2:11447160-11447210	SK-N-SH	brain:	n/a
39	chr2:11447160-11447210	BE2_C	brain:	n/a
40	chr2:11447160-11447210	Caco-2	colon:	n/a
41	chr2:11447160-11447210	Jurkat	blood:	n/a
42	chr2:11447160-11447210	Hela-S3	cervix:	n/a
43	chr2:11447160-11447210	PrEC	prostate:	n/a
44	chr2:11447160-11447210	HRE	kidney:	n/a
45	chr2:11447160-11447210	T-47D	breast:	n/a
46	chr2:11447160-11447210	HEK293	kidney:	embryo
47	chr2:11447160-11447210	HepG2	liver:	n/a
48	chr2:11447160-11447210	HRPEpiC	eye:	n/a
49	chr2:11447160-11447210	NHBE	bronchial:	n/a
50	chr2:11447160-11447210	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:11443856..11445730-chr2:11445772..11448144,2	K562	blood:
2	chr2:11437773..11439523-chr2:11445218..11447388,2	K562	blood:
3	chr2:11444512..11447438-chr2:11450182..11452688,2	K562	blood:
4	chr2:11435287..11437143-chr2:11445238..11447670,2	K562	blood:
5	chr2:11446328..11449302-chr2:11482839..11485533,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230154	TF binding region
ENSG00000230154	CpG island
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv962059	chr2:11447027-11450757	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
3	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:11442800-11447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:11443400-11447200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:11443400-11447200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:11443800-11449400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11444000-11447400	Enhancers	Colon Smooth Muscle	Colon
9	chr2:11444000-11449800	Weak transcription	Aorta	Aorta
10	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:11444200-11447400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:11444600-11447800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:11444800-11447600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr2:11444800-11448000	Enhancers	NHDF-Ad	bronchial
15	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:11445200-11450200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:11445400-11447200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:11445400-11447200	Enhancers	HSMM	muscle
20	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
21	chr2:11445600-11447200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:11445600-11447200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11445600-11447200	Enhancers	Osteobl	bone
24	chr2:11445600-11447400	Enhancers	NHLF	lung
25	chr2:11445600-11447600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:11445800-11447200	Enhancers	Fetal Stomach	stomach
27	chr2:11445800-11448800	Weak transcription	NHEK	skin
28	chr2:11445800-11449800	Weak transcription	Lung	lung
29	chr2:11446000-11447200	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:11446000-11447200	Enhancers	A549	lung
31	chr2:11446000-11448400	Enhancers	HepG2	liver
32	chr2:11446000-11448800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr2:11446200-11447200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:11446200-11453200	Weak transcription	K562	blood
35	chr2:11446400-11447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:11446400-11447200	Enhancers	Liver	Liver
37	chr2:11446800-11447200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:11446800-11447200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:11446800-11447200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:11446800-11448200	Enhancers	Psoas Muscle	Psoas
41	chr2:11446800-11449800	Weak transcription	HMEC	breast
42	chr2:11447000-11449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:11447000-11449800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:11447000-11449800	Weak transcription	Adipose Nuclei	Adipose
45	chr2:11447000-11449800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:11447000-11450200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:11447000-11450400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:11447000-11450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:11447000-11450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links