Variant report

Variant	rs61818805
Chromosome Location	chr1:113233698-113233699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113226102..113228407-chr1:113233460..113235950,2	MCF-7	breast:
2	chr1:113229049..113232047-chr1:113233162..113235859,4	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1106287	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1110042	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11102513	0.87[EUR][1000 genomes]
rs11102514	0.87[EUR][1000 genomes]
rs11102520	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12030612	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12030641	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12040988	0.88[EUR][1000 genomes]
rs12120956	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12122980	0.87[EUR][1000 genomes]
rs12126684	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12126971	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130243	0.87[EUR][1000 genomes]
rs12133583	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12728311	0.84[EUR][1000 genomes]
rs12756815	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17030613	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17030651	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2009056	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2279499	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2306937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2306940	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2887882	0.87[EUR][1000 genomes]
rs34848593	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3748656	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3795819	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818802	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6679	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs883593	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9308256	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
5	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61818805	ST7L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113218400-113234200	Weak transcription	Aorta	Aorta
2	chr1:113218600-113235000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:113218600-113235400	Weak transcription	HSMM	muscle
4	chr1:113218600-113240800	Weak transcription	Right Atrium	heart
5	chr1:113218800-113234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:113219000-113234400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:113219000-113235400	Weak transcription	A549	lung
8	chr1:113219000-113242200	Weak transcription	NHDF-Ad	bronchial
9	chr1:113219000-113243800	Weak transcription	Fetal Brain Male	brain
10	chr1:113220000-113234400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:113222000-113243000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:113222200-113234200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:113224800-113235000	Weak transcription	HSMMtube	muscle
14	chr1:113226000-113234200	Weak transcription	Pancreas	Pancrea
15	chr1:113228000-113234200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:113228400-113239000	Strong transcription	Fetal Intestine Small	intestine
17	chr1:113228600-113242800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:113228600-113242800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:113228800-113234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:113229000-113235200	Weak transcription	Stomach Mucosa	stomach
21	chr1:113229000-113242200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:113229200-113237200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:113229200-113248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:113229600-113243200	Strong transcription	Dnd41	blood
25	chr1:113230200-113238000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:113230200-113239400	Strong transcription	Fetal Intestine Large	intestine
27	chr1:113230200-113239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:113230200-113240200	Weak transcription	Fetal Heart	heart
29	chr1:113230200-113240600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:113230200-113240800	Strong transcription	Adipose Nuclei	Adipose
31	chr1:113230200-113241200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:113230200-113242600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:113230200-113243000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:113230200-113243200	Strong transcription	Primary T cells from cord blood	blood
35	chr1:113230400-113234200	Weak transcription	GM12878-XiMat	blood
36	chr1:113230400-113240400	Strong transcription	HepG2	liver
37	chr1:113230400-113240600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:113230400-113241200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:113230600-113240800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:113230600-113241000	Strong transcription	Gastric	stomach
41	chr1:113230600-113241400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:113230600-113242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:113230600-113242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:113230600-113242200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:113230600-113242600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:113230800-113239800	Strong transcription	Liver	Liver
47	chr1:113230800-113240000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:113230800-113241400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:113231000-113234400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:113231000-113236400	Weak transcription	Brain Angular Gyrus	brain

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