Variant report

Variant	rs7614535
Chromosome Location	chr3:52252043-52252044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52251398..52253823-chr3:52256972..52258632,2	K562	blood:
2	chr3:52251268..52253019-chr3:52261280..52262997,2	MCF-7	breast:
3	chr3:52250996..52253546-chr3:52419538..52422445,2	K562	blood:
4	chr3:52231490..52233145-chr3:52251081..52252958,3	K562	blood:
5	chr3:52251845..52253932-chr3:52273261..52274820,2	MCF-7	breast:
6	chr3:52251121..52253851-chr3:52256941..52260027,3	MCF-7	breast:
7	chr3:52185911..52188295-chr3:52249759..52252665,2	MCF-7	breast:
8	chr3:52251508..52254087-chr3:52323193..52325029,2	MCF-7	breast:
9	chr3:52249785..52252612-chr3:52310653..52312543,2	MCF-7	breast:
10	chr3:52251118..52254493-chr3:52265556..52267197,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TLR9-1	chr3:52251032-52253028	NONHSAT089900

No data

Variant related genes	Relation type
ENSG00000243224	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000247596	Chromatin interaction
ENSG00000168237	Chromatin interaction
ENSG00000023330	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17052020	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs28758860	1.00[MEX][hapmap]
rs56990501	1.00[EUR][1000 genomes]
rs5743838	1.00[EUR][1000 genomes]
rs6445259	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6766038	1.00[TSI][hapmap]
rs6784563	1.00[EUR][1000 genomes]
rs6784653	1.00[EUR][1000 genomes]
rs6797786	1.00[EUR][1000 genomes]
rs7611413	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7615736	1.00[MEX][hapmap]
rs7617023	1.00[EUR][1000 genomes]
rs7623076	1.00[EUR][1000 genomes]
rs7625515	1.00[EUR][1000 genomes]
rs7636412	1.00[EUR][1000 genomes]
rs7652984	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 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	chr3:52246000-52252800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:52247200-52263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:52247400-52252200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:52247800-52272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:52249000-52254800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:52249600-52252200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:52249600-52252400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:52249600-52253000	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:52249600-52263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:52249800-52252200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:52249800-52252800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:52249800-52254600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:52249800-52254600	Weak transcription	Dnd41	blood
14	chr3:52249800-52262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:52249800-52262400	Weak transcription	Aorta	Aorta
16	chr3:52250000-52252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:52250000-52252400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:52250000-52253000	Enhancers	Pancreas	Pancrea
19	chr3:52250000-52254000	Enhancers	Right Ventricle	heart
20	chr3:52250000-52254600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:52250000-52256800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:52250000-52261400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:52250000-52261800	Weak transcription	Brain Germinal Matrix	brain
24	chr3:52250000-52262200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:52250000-52262600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:52250200-52252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:52250200-52253000	Enhancers	Small Intestine	intestine
28	chr3:52250200-52255000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:52250200-52257800	Enhancers	Fetal Muscle Trunk	muscle
30	chr3:52250200-52262800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:52250400-52252200	Enhancers	HepG2	liver
32	chr3:52250400-52253400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr3:52250400-52253600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:52250400-52253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:52250400-52255200	Enhancers	Fetal Stomach	stomach
36	chr3:52250600-52252200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr3:52250600-52252200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr3:52250600-52252400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:52250600-52252600	Enhancers	Liver	Liver
40	chr3:52250600-52252800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:52250600-52253000	Enhancers	Thymus	Thymus
42	chr3:52250600-52253200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr3:52250600-52253200	Enhancers	Fetal Kidney	kidney
44	chr3:52250600-52253400	Enhancers	NH-A	brain
45	chr3:52250600-52253600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:52250600-52253600	Enhancers	Esophagus	oesophagus
47	chr3:52250600-52253800	Enhancers	Right Atrium	heart
48	chr3:52250600-52254000	Enhancers	Left Ventricle	heart
49	chr3:52250600-52254000	Enhancers	Lung	lung
50	chr3:52250600-52254000	Enhancers	Placenta Amnion	Placenta Amnion

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