Variant report

Variant	rs894639
Chromosome Location	chr4:16226298-16226299
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	MAZ	chr4:16225763-16226420	K562	blood:	n/a	n/a
2	CUX1	chr4:16225930-16226572	K562	blood:	n/a	n/a
3	MXI1	chr4:16226152-16226458	GM12878	blood:	n/a	n/a
4	JUND	chr4:16225868-16226510	K562	blood:	n/a	n/a
5	MAFK	chr4:16226108-16226520	K562	blood:	n/a	n/a
6	TEAD4	chr4:16225908-16226373	H1-hESC	embryonic stem cell:	n/a	n/a
7	WRNIP1	chr4:16226065-16226419	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:16225703-16226407	HepG2	liver:	n/a	n/a
9	YY1	chr4:16226279-16226581	K562	blood:	n/a	chr4:16226322-16226331
10	ZNF384	chr4:16226146-16226452	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16212529..16219737-chr4:16225844..16229602,8	MCF-7	breast:
2	chr4:16221619..16226314-chr4:16226369..16230057,8	MCF-7	breast:

Variant related genes	Relation type
TAPT1-AS1	TF binding region
ENSG00000263327	Chromatin interaction
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10516298	0.90[CHD][hapmap];0.93[JPT][hapmap]
rs10516299	0.90[CHD][hapmap]
rs10939653	0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs11724076	0.91[ASN][1000 genomes]
rs11724423	0.84[ASN][1000 genomes]
rs11731602	0.81[ASN][1000 genomes]
rs11736424	0.81[ASN][1000 genomes]
rs11736827	0.90[ASN][1000 genomes]
rs12504884	0.91[ASN][1000 genomes]
rs12506249	0.89[ASN][1000 genomes]
rs12506478	0.89[ASN][1000 genomes]
rs12513244	0.87[ASN][1000 genomes]
rs12643544	0.84[ASN][1000 genomes]
rs12645055	0.88[ASN][1000 genomes]
rs12651110	0.88[ASN][1000 genomes]
rs1373112	0.89[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1662652	0.84[ASN][1000 genomes]
rs1662654	0.95[CHD][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs16893138	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs16893143	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs16893144	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs16893147	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893158	0.90[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs178450	0.92[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap]
rs28645901	0.90[ASN][1000 genomes]
rs317854	0.80[CEU][hapmap]
rs317869	0.90[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap]
rs317874	0.89[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs317878	0.92[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap]
rs35851218	0.91[ASN][1000 genomes]
rs56023844	0.88[ASN][1000 genomes]
rs56218994	0.81[ASN][1000 genomes]
rs57089965	0.84[ASN][1000 genomes]
rs60460559	0.91[ASN][1000 genomes]
rs60768295	0.91[ASN][1000 genomes]
rs73128457	0.84[ASN][1000 genomes]
rs73130433	0.89[ASN][1000 genomes]
rs73130439	0.89[ASN][1000 genomes]
rs73130445	0.86[ASN][1000 genomes]
rs73130449	0.88[ASN][1000 genomes]
rs73130451	0.88[ASN][1000 genomes]
rs73130453	0.88[ASN][1000 genomes]
rs73130456	0.91[ASN][1000 genomes]
rs7657191	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:16204800-16226600	Weak transcription	NH-A	brain
3	chr4:16208800-16227200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:16214400-16226800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:16223800-16226400	Enhancers	Fetal Brain Male	brain
6	chr4:16224200-16226600	Enhancers	Ovary	ovary
7	chr4:16224400-16226400	Enhancers	Spleen	Spleen
8	chr4:16224400-16227000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:16224400-16227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:16224400-16227200	Enhancers	Small Intestine	intestine
11	chr4:16224600-16226400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:16224600-16226400	Enhancers	Stomach Mucosa	stomach
13	chr4:16224600-16226400	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr4:16224600-16226600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr4:16224600-16226600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr4:16224600-16226600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr4:16224600-16227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:16224600-16227000	Flanking Active TSS	Liver	Liver
19	chr4:16224800-16226600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:16224800-16227600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr4:16225000-16226400	Enhancers	Fetal Muscle Leg	muscle
22	chr4:16225000-16226400	Flanking Active TSS	HepG2	liver
23	chr4:16225000-16227200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:16225200-16226600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:16225200-16227200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr4:16225400-16226400	Flanking Active TSS	Thymus	Thymus
27	chr4:16225600-16226400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:16225600-16226400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
29	chr4:16225600-16226400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr4:16225600-16226400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:16225600-16226400	Enhancers	Esophagus	oesophagus
32	chr4:16225600-16226400	Enhancers	Gastric	stomach
33	chr4:16225600-16226400	Enhancers	Lung	lung
34	chr4:16225600-16226400	Enhancers	Pancreas	Pancrea
35	chr4:16225600-16226400	Flanking Active TSS	Psoas Muscle	Psoas
36	chr4:16225600-16226600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:16225600-16226600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:16225600-16226800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:16225600-16226800	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr4:16225600-16227000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr4:16225600-16227000	Flanking Active TSS	Hela-S3	cervix
42	chr4:16225600-16227200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr4:16225600-16227400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr4:16225600-16227600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr4:16225600-16230800	Active TSS	A549	lung
46	chr4:16225800-16226400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:16225800-16226400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:16225800-16226400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr4:16225800-16226400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:16225800-16226400	Flanking Active TSS	Aorta	Aorta

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