Variant report

Variant	rs323891
Chromosome Location	chr3:52018336-52018337
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	chr3:52018013-52018514	PFSK-1	brain:	n/a	n/a
2	MAZ	chr3:52018246-52018431	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:52017476-52018668	K562	blood:	n/a	n/a
4	ZNF263	chr3:52017927-52018394	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr3:52017838-52018672	K562	blood:	n/a	n/a
6	POLR2A	chr3:52016629-52018550	K562	blood:	n/a	n/a
7	POLR2A	chr3:52016371-52021465	K562	blood:	n/a	n/a
8	POLR2A	chr3:52018168-52018374	K562	blood:	n/a	n/a
9	POLR2A	chr3:52016743-52018542	K562	blood:	n/a	n/a
10	HEY1	chr3:52016297-52018485	HepG2	liver:	n/a	chr3:52016758-52016767
11	CREB1	chr3:52016266-52018413	HepG2	liver:	n/a	chr3:52016755-52016768
12	POLR2A	chr3:52016343-52018611	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:52016431-52018427	SK-N-MC	brain:	n/a	n/a
14	YY1	chr3:52017942-52018356	HepG2	liver:	n/a	n/a
15	MAX	chr3:52016251-52018418	HepG2	liver:	n/a	chr3:52016849-52016860 chr3:52016846-52016861
16	POLR2A	chr3:52016082-52030443	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:52016606-52018484	K562	blood:	n/a	n/a
18	POLR2A	chr3:52016306-52018700	HepG2	liver:	n/a	n/a
19	MYC	chr3:52016477-52018379	K562	blood:	n/a	chr3:52016849-52016860 chr3:52016846-52016861

No.	Distal block	Cell Line	Cell type
1	chr3:52015921..52019600-chr3:52088214..52092499,4	K562	blood:
2	chr3:52016320..52018909-chr3:52089400..52091632,2	MCF-7	breast:
3	chr3:51975062..51978431-chr3:52015984..52020263,5	K562	blood:
4	chr3:52004409..52006083-chr3:52016473..52018400,2	MCF-7	breast:
5	chr3:51974624..51978885-chr3:52015984..52028227,23	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABHD14A-1	chr3:52018063-52018417	NONHSAT089891

Variant related genes	Relation type
ABHD14B	TF binding region
ACY1	TF binding region
ENSG00000248487	Chromatin interaction
ENSG00000164086	Chromatin interaction
ENSG00000114767	Chromatin interaction
ENSG00000041880	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs178918	1.00[AMR][1000 genomes]
rs323869	1.00[AMR][1000 genomes]
rs323870	1.00[AMR][1000 genomes]
rs323872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323878	1.00[AMR][1000 genomes]
rs323880	1.00[AMR][1000 genomes]
rs323889	1.00[AMR][1000 genomes]
rs323896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323900	1.00[AMR][1000 genomes]
rs368210	1.00[AMR][1000 genomes]
rs422304	1.00[AMR][1000 genomes]
rs433823	0.84[AFR][1000 genomes]
rs56746340	1.00[AMR][1000 genomes]
rs57384151	1.00[AMR][1000 genomes]
rs6446141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961930	1.00[AMR][1000 genomes]
rs72961999	1.00[AMR][1000 genomes]
rs72964016	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7426999	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7636204	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9683234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv876785	chr3:51994881-52022779	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52016200-52019400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:52016400-52018400	Flanking Active TSS	HMEC	breast
3	chr3:52017000-52018400	Active TSS	Fetal Kidney	kidney
4	chr3:52017200-52019000	Active TSS	K562	blood
5	chr3:52017400-52018800	Enhancers	Stomach Mucosa	stomach
6	chr3:52017600-52018400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:52017600-52018400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr3:52017600-52018400	Enhancers	Lung	lung
9	chr3:52017600-52018400	Flanking Active TSS	Osteobl	bone
10	chr3:52017600-52018600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr3:52017600-52018600	Enhancers	Spleen	Spleen
12	chr3:52017600-52018600	Flanking Active TSS	Hela-S3	cervix
13	chr3:52017600-52018600	Flanking Active TSS	NHEK	skin
14	chr3:52017600-52019400	Weak transcription	Small Intestine	intestine
15	chr3:52017600-52019600	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr3:52017800-52018400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:52017800-52018400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:52017800-52018400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:52017800-52018400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:52017800-52018400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr3:52017800-52018400	Enhancers	Fetal Heart	heart
22	chr3:52017800-52018400	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr3:52017800-52018400	Enhancers	Left Ventricle	heart
24	chr3:52017800-52018400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr3:52017800-52018400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr3:52017800-52018400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr3:52017800-52018400	Flanking Active TSS	HSMM	muscle
28	chr3:52017800-52018400	Flanking Active TSS	NHLF	lung
29	chr3:52017800-52018600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:52017800-52018600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:52017800-52018600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:52017800-52018600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:52017800-52018600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:52017800-52018600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr3:52017800-52018600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr3:52017800-52018600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:52017800-52018800	Flanking Active TSS	Liver	Liver
38	chr3:52017800-52019000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:52017800-52019400	Enhancers	Fetal Thymus	thymus
40	chr3:52017800-52020600	Enhancers	Gastric	stomach
41	chr3:52017800-52020600	Enhancers	Pancreas	Pancrea
42	chr3:52017800-52025600	Weak transcription	Ovary	ovary
43	chr3:52017800-52025600	Weak transcription	Thymus	Thymus
44	chr3:52017800-52025800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:52017800-52026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:52017800-52026000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:52017800-52027600	Weak transcription	Fetal Brain Male	brain
48	chr3:52017800-52028200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:52017800-52028200	Weak transcription	Aorta	Aorta
50	chr3:52017800-52028600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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