Variant report

Variant	rs698605
Chromosome Location	chr2:191044549-191044550
allele	C/T
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	EP300	chr2:191044514-191044592	GM12878	blood:	n/a	n/a
2	KAP1	chr2:191044490-191045576	HEK293	kidney:	n/a	n/a
3	MAX	chr2:191044294-191046089	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
4	EP300	chr2:191044444-191045208	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:191044450-191044725	GM12878	blood:	n/a	n/a
6	MAX	chr2:191044452-191046036	ECC-1	luminal epithelium:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
7	RCOR1	chr2:191044545-191045988	HepG2	liver:	n/a	n/a
8	MBD4	chr2:191044427-191045242	HepG2	liver:	n/a	n/a
9	EBF1	chr2:191044396-191045263	GM12878	blood:	n/a	chr2:191044620-191044631 chr2:191044619-191044632
10	POLR2A	chr2:191044542-191045955	GM19099	blood:	n/a	n/a
11	STAT1	chr2:191044547-191044628	GM12878	blood:	n/a	n/a
12	MAX	chr2:191044492-191045881	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
13	BATF	chr2:191044407-191044741	GM12878	blood:	n/a	n/a
14	TBP	chr2:191044501-191045270	GM12878	blood:	n/a	n/a
15	BRCA1	chr2:191044546-191045090	HepG2	liver:	n/a	n/a
16	USF2	chr2:191044529-191045694	GM12878	blood:	n/a	chr2:191045441-191045457 chr2:191045670-191045686
17	MAX	chr2:191044473-191046063	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
18	CUX1	chr2:191044394-191044725	GM12878	blood:	n/a	n/a
19	MBD4	chr2:191044417-191045568	HepG2	liver:	n/a	n/a
20	MTA3	chr2:191044430-191045372	GM12878	blood:	n/a	n/a
21	MAX	chr2:191044489-191045749	GM12878	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
22	MYBL2	chr2:191044511-191045414	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191040400..191043203-chr2:191043508..191045090,2	K562	blood:

Variant related genes	Relation type
C2orf88	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1866848	0.81[AFR][1000 genomes]
rs2165407	0.81[AFR][1000 genomes]
rs2251866	0.81[AFR][1000 genomes]
rs2664265	1.00[AFR][1000 genomes]
rs291401	0.81[AFR][1000 genomes]
rs291457	0.91[AFR][1000 genomes]
rs698586	0.91[AFR][1000 genomes]
rs785050	1.00[AFR][1000 genomes]
rs785051	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3441594	chr2:191044357-191046805	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191039600-191044800	Weak transcription	Right Atrium	heart
2	chr2:191042000-191044600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:191042000-191044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:191042400-191044600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:191043000-191044600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:191043200-191044600	Enhancers	Brain Anterior Caudate	brain
7	chr2:191043200-191044600	Weak transcription	K562	blood
8	chr2:191043200-191044800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:191043400-191044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:191043400-191044800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:191043400-191044800	Weak transcription	Pancreas	Pancrea
12	chr2:191043600-191044600	Enhancers	Stomach Mucosa	stomach
13	chr2:191043600-191044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:191043600-191044800	Enhancers	Brain Angular Gyrus	brain
15	chr2:191043600-191044800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:191043600-191044800	Enhancers	Brain Substantia Nigra	brain
17	chr2:191043800-191044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:191043800-191044800	Enhancers	Fetal Intestine Large	intestine
19	chr2:191044000-191044600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:191044000-191044600	Enhancers	Brain Hippocampus Middle	brain
21	chr2:191044200-191044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:191044200-191044600	Flanking Active TSS	HepG2	liver
23	chr2:191044400-191044600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:191044400-191044600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:191044400-191044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:191044400-191044600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:191044400-191044600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:191044400-191044600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:191044400-191044600	Enhancers	Adipose Nuclei	Adipose
30	chr2:191044400-191044600	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:191044400-191044600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:191044400-191044600	Enhancers	Fetal Heart	heart
33	chr2:191044400-191044600	Enhancers	Fetal Intestine Small	intestine
34	chr2:191044400-191044600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:191044400-191044600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:191044400-191044600	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:191044400-191044600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:191044400-191044600	Enhancers	A549	lung
39	chr2:191044400-191044600	Enhancers	NH-A	brain
40	chr2:191044400-191044600	Enhancers	NHDF-Ad	bronchial
41	chr2:191044400-191044800	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:191044400-191044800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:191044400-191044800	Enhancers	NHEK	skin
44	chr2:191044400-191044800	Enhancers	Osteobl	bone
45	chr2:191044400-191045000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr2:191044400-191045000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:191044400-191045000	Enhancers	Small Intestine	intestine
48	chr2:191044400-191045000	Flanking Active TSS	GM12878-XiMat	blood
49	chr2:191044400-191046000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:191044400-191046200	Active TSS	Brain Cingulate Gyrus	brain

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