Variant report

Variant	rs7069702
Chromosome Location	chr10:38247359-38247360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38246641..38248987-chr10:38255413..38257422,2	MCF-7	breast:
2	chr10:38146605..38148407-chr10:38246117..38248023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198105	Chromatin interaction
ENSG00000236514	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1022698	0.80[AMR][1000 genomes]
rs10764147	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10827835	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10827836	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11011407	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1208559	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1208592	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1208681	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1208684	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1208689	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1208767	0.80[AMR][1000 genomes]
rs13503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1735577	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1779017	0.80[AMR][1000 genomes]
rs200903	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200910	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200924	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200935	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs200936	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200937	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200939	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200943	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2144849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2180408	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2257186	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2472150	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504130	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2504155	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2505232	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851078	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4934916	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs496627	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs527163	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs619739	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623149	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623454	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs626519	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629577	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639479	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs640774	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs645064	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs662945	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7099777	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs719569	0.96[AMR][1000 genomes];0.92[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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1052703	chr10:38174640-38266472	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7069702	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs7069702	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38236800-38249000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:38238000-38248600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr10:38238400-38253000	Weak transcription	Fetal Intestine Small	intestine
4	chr10:38238800-38248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:38239000-38249400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr10:38239200-38248000	Strong transcription	Adipose Nuclei	Adipose
7	chr10:38239400-38247400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:38239400-38247800	Strong transcription	Brain Hippocampus Middle	brain
9	chr10:38239400-38248200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:38239600-38264400	Weak transcription	Fetal Heart	heart
11	chr10:38239600-38264600	Weak transcription	Stomach Mucosa	stomach
12	chr10:38240000-38247600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:38240200-38247800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:38240400-38247600	Strong transcription	Fetal Lung	lung
15	chr10:38240400-38249200	Strong transcription	Ovary	ovary
16	chr10:38240600-38247400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr10:38240600-38247400	Strong transcription	NHDF-Ad	bronchial
18	chr10:38240600-38247800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr10:38240600-38248200	Strong transcription	Fetal Muscle Leg	muscle
20	chr10:38240800-38264000	Weak transcription	NHLF	lung
21	chr10:38241000-38247400	Strong transcription	Brain Angular Gyrus	brain
22	chr10:38241000-38247400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr10:38241000-38247800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:38241000-38248200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:38241200-38247400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr10:38241200-38247400	Strong transcription	Brain Anterior Caudate	brain
27	chr10:38241200-38249600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:38241800-38249000	Weak transcription	Small Intestine	intestine
29	chr10:38241800-38264400	Weak transcription	NHEK	skin
30	chr10:38242000-38248400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr10:38242200-38253600	Weak transcription	Esophagus	oesophagus
32	chr10:38242200-38253800	Weak transcription	Pancreas	Pancrea
33	chr10:38242400-38247800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:38242400-38248200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:38242400-38248800	Strong transcription	Fetal Brain Female	brain
36	chr10:38242400-38253400	Weak transcription	Spleen	Spleen
37	chr10:38242400-38253600	Weak transcription	Gastric	stomach
38	chr10:38242600-38247400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr10:38242600-38248600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr10:38242600-38264400	Weak transcription	HUVEC	blood vessel
41	chr10:38243000-38247400	Strong transcription	Primary B cells from cord blood	blood
42	chr10:38243000-38247800	Strong transcription	Liver	Liver
43	chr10:38243000-38253600	Weak transcription	Right Ventricle	heart
44	chr10:38243200-38247800	Weak transcription	Colonic Mucosa	Colon
45	chr10:38243200-38248600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:38243400-38247800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:38243400-38248600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr10:38243400-38252800	Weak transcription	Dnd41	blood
49	chr10:38243400-38253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:38243600-38247800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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