Variant report

Variant	rs3735019
Chromosome Location	chr7:137562798-137562799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137552799..137554364-chr7:137560762..137563615,2	K562	blood:
2	chr7:137562154..137564910-chr7:137565375..137570111,4	K562	blood:
3	chr7:137561745..137565223-chr7:137565375..137570123,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10243295	1.00[TSI][hapmap]
rs10250405	0.81[ASN][1000 genomes]
rs10261211	1.00[TSI][hapmap]
rs10954590	0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[ASN][1000 genomes]
rs11975719	1.00[AMR][1000 genomes]
rs12673967	1.00[AMR][1000 genomes]
rs17169441	0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1871214	1.00[TSI][hapmap]
rs3735016	0.81[ASN][1000 genomes]
rs3735020	1.00[GIH][hapmap];0.81[ASN][1000 genomes]
rs61640672	1.00[AMR][1000 genomes]
rs6467716	1.00[TSI][hapmap]
rs6467721	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6943538	0.86[CHD][hapmap]
rs6958842	1.00[ASW][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959012	1.00[GIH][hapmap];0.83[ASN][1000 genomes]
rs6960308	0.83[ASW][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6960313	0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs6971738	0.87[ASN][1000 genomes]
rs6976638	0.80[ASN][1000 genomes]
rs6976928	1.00[GIH][hapmap];0.83[ASN][1000 genomes]
rs6977828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980335	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs769037	0.85[ASN][1000 genomes]
rs769038	0.87[ASN][1000 genomes]
rs7788967	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137534200-137563000	Weak transcription	HMEC	breast
3	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
4	chr7:137545000-137564200	Weak transcription	Small Intestine	intestine
5	chr7:137546400-137564000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:137548400-137563200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:137550200-137564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:137550600-137563400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:137551200-137569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:137551600-137562800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:137553000-137563200	Weak transcription	Colonic Mucosa	Colon
13	chr7:137555600-137563800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:137556000-137563200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:137556000-137566800	Strong transcription	GM12878-XiMat	blood
17	chr7:137556000-137570800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:137556000-137573600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:137556400-137562800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:137556400-137564800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:137556600-137562800	Weak transcription	Gastric	stomach
22	chr7:137556600-137563200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:137557000-137566800	Strong transcription	Fetal Intestine Large	intestine
24	chr7:137557000-137570600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr7:137557200-137564000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:137557200-137566800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:137557400-137567200	Genic enhancers	Osteobl	bone
28	chr7:137557600-137563200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:137557600-137563400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr7:137557800-137564400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:137557800-137564600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:137557800-137566400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:137558000-137562800	Weak transcription	Esophagus	oesophagus
35	chr7:137558000-137564800	Enhancers	Fetal Heart	heart
36	chr7:137558200-137565400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr7:137558200-137566800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:137558200-137566800	Strong transcription	Liver	Liver
39	chr7:137558400-137566800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:137558400-137571600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:137558600-137565000	Genic enhancers	Fetal Stomach	stomach
43	chr7:137558600-137566000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:137558800-137562800	Weak transcription	Psoas Muscle	Psoas
45	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
46	chr7:137559000-137564600	Weak transcription	Dnd41	blood
47	chr7:137559400-137562800	Weak transcription	Spleen	Spleen
48	chr7:137559400-137568600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:137559400-137575200	Strong transcription	HepG2	liver
50	chr7:137559600-137564000	Weak transcription	Hela-S3	cervix

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