Variant report

Variant	rs2686314
Chromosome Location	chr3:20188074-20188075
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	chr3:20187164-20202632	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20185698..20188649-chr3:20188952..20191423,4	K562	blood:
2	chr3:20186107..20188316-chr3:20191004..20193087,2	MCF-7	breast:

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000114166	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1052930	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs1828080	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1848322	0.88[ASN][1000 genomes]
rs1848323	0.88[ASN][1000 genomes]
rs1868	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1995722	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs2661378	1.00[CHD][hapmap]
rs2686313	1.00[CHD][hapmap]
rs2686316	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2686317	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3852067	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs4364184	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4435663	1.00[CHD][hapmap]
rs4491921	0.88[ASN][1000 genomes]
rs4858158	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs57625405	0.88[ASN][1000 genomes]
rs6550373	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6550374	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6550402	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6550403	0.88[ASN][1000 genomes]
rs6550410	0.88[ASN][1000 genomes]
rs6550412	0.88[ASN][1000 genomes]
rs6767049	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6773807	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6777450	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6793304	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs6796884	0.88[ASN][1000 genomes]
rs6809221	0.83[ASN][1000 genomes]
rs7619317	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs7624514	1.00[CHD][hapmap]
rs7628915	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs7635559	0.88[ASN][1000 genomes]
rs9310613	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[ASN][1000 genomes]
rs955011	0.88[ASN][1000 genomes]
rs970589	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs978928	0.88[ASN][1000 genomes]
rs9849205	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	esv1827700	chr3:20119716-20489086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	esv1830036	chr3:20121828-20278275	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	esv1830599	chr3:20121828-20375643	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	esv1828816	chr3:20136508-20389045	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	esv3394910	chr3:20150394-20203576	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv3334928	chr3:20150414-20203546	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	esv1832674	chr3:20152772-20605302	Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	esv1831853	chr3:20157077-20615273	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	esv1833208	chr3:20157077-20638228	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
20	esv2422249	chr3:20163608-20626956	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
21	esv1826144	chr3:20164282-20638228	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
22	nsv1013532	chr3:20172889-20305612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
23	nsv536513	chr3:20172889-20305612	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2686314	EFHB	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
4	chr3:20147600-20194200	Weak transcription	Dnd41	blood
5	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
6	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
9	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:20167800-20196600	Weak transcription	K562	blood
11	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
13	chr3:20169600-20189600	Weak transcription	Fetal Intestine Large	intestine
14	chr3:20169600-20189600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
16	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
17	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:20174800-20190000	Weak transcription	Placenta	Placenta
20	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:20177800-20195200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:20178200-20195200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:20178400-20191800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:20179000-20196400	Weak transcription	HUVEC	blood vessel
25	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
26	chr3:20181400-20195600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:20181800-20200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:20182400-20195200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:20182400-20196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:20182800-20198000	Weak transcription	Ovary	ovary
32	chr3:20183200-20192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:20183800-20193000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:20183800-20196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:20183800-20196000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:20183800-20196400	Weak transcription	Fetal Intestine Small	intestine
38	chr3:20183800-20196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:20183800-20198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:20183800-20198400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:20183800-20199600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:20183800-20199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:20184000-20196400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:20184000-20198000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:20184200-20189600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr3:20184200-20190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:20184200-20196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:20184400-20189200	Weak transcription	Brain Anterior Caudate	brain
49	chr3:20184400-20189400	Weak transcription	Fetal Stomach	stomach
50	chr3:20184400-20196000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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