Variant report

Variant	rs3769521
Chromosome Location	chr2:209116753-209116754
allele	A/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	POLR2A	chr2:209099467-209120161	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209115314..209118296-chr2:209118564..209121392,2	MCF-7	breast:
2	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
3	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
4	chr2:209110703..209113505-chr2:209114518..209117084,3	K562	blood:

Variant related genes	Relation type
IDH1-AS1	TF binding region
ENSG00000138413	Chromatin interaction
ENSG00000115020	Chromatin interaction
ENSG00000231908	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1001569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10172822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13016936	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13032031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13403425	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1370369	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3754817	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7606320	1.00[ASN][1000 genomes]
rs9288393	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv525747	chr2:209087335-209116753	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3769521	C2orf67	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209093000-209118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209099800-209117000	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:209099800-209117200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr2:209099800-209118000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:209100000-209117000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:209100000-209117000	Strong transcription	Left Ventricle	heart
7	chr2:209100200-209118000	Strong transcription	Fetal Thymus	thymus
8	chr2:209100600-209117800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:209100800-209116800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:209100800-209117800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:209100800-209117800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr2:209101000-209118000	Strong transcription	Placenta	Placenta
13	chr2:209101200-209118000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr2:209101200-209118400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:209101400-209117600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:209101400-209117800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:209101600-209117000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:209101800-209116800	Strong transcription	Fetal Lung	lung
19	chr2:209102000-209117200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:209102000-209117800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:209103200-209117000	Weak transcription	Right Atrium	heart
22	chr2:209103200-209118200	Strong transcription	NH-A	brain
23	chr2:209103400-209118200	Strong transcription	NHDF-Ad	bronchial
24	chr2:209104200-209118000	Weak transcription	Right Ventricle	heart
25	chr2:209104800-209118400	Weak transcription	Aorta	Aorta
26	chr2:209105000-209118800	Weak transcription	Gastric	stomach
27	chr2:209106200-209117200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:209106600-209116800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:209106800-209118400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:209106800-209118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:209106800-209118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:209107400-209116800	Weak transcription	Fetal Heart	heart
33	chr2:209108000-209117600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:209108800-209118400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr2:209110400-209116800	Strong transcription	HSMMtube	muscle
36	chr2:209111000-209116800	Weak transcription	Fetal Brain Male	brain
37	chr2:209112000-209117200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:209112200-209117600	Strong transcription	NHLF	lung
39	chr2:209112800-209118800	Weak transcription	Lung	lung
40	chr2:209113400-209118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:209113400-209118000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:209113400-209118000	Weak transcription	Pancreas	Pancrea
43	chr2:209113600-209118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:209113800-209117000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:209113800-209118600	Weak transcription	Colonic Mucosa	Colon
46	chr2:209114000-209117400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:209114000-209118400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:209114200-209116800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:209114200-209116800	Weak transcription	Fetal Intestine Small	intestine
50	chr2:209114200-209117000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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