Variant report

Variant	rs73717390
Chromosome Location	chr7:121170515-121170516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:
2	chr7:121170290..121173101-chr7:121184218..121187943,3	K562	blood:
3	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
4	chr7:121170153..121172336-chr7:121176867..121178434,2	K562	blood:
5	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10234763	0.84[ASN][1000 genomes]
rs10488048	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11770272	0.94[ASN][1000 genomes]
rs11977460	0.89[ASN][1000 genomes]
rs11978831	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979236	1.00[ASN][1000 genomes]
rs1406192	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1406193	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17132763	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17143495	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17143500	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1830308	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402580	0.92[ASN][1000 genomes]
rs56263246	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58130666	0.94[ASN][1000 genomes]
rs58302670	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59102661	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59320957	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466798	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6948165	0.89[ASN][1000 genomes]
rs6952513	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6964469	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970940	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73225231	0.89[ASN][1000 genomes]
rs73225236	1.00[ASN][1000 genomes]
rs73717388	0.95[ASN][1000 genomes]
rs73717391	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73717392	0.94[ASN][1000 genomes]
rs73717393	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73717402	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73719803	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73719804	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73719806	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73719807	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73719811	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7455326	0.89[ASN][1000 genomes]
rs7792771	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1015438	chr7:121161554-121221761	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv824290	chr7:121161692-121179342	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv824291	chr7:121161896-121179567	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1811558	chr7:121161987-121186293	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv442067	chr7:121161987-121186293	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv518821	chr7:121165809-121177396	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121169000-121171600	Enhancers	HUVEC	blood vessel
2	chr7:121169000-121171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:121169200-121171800	Enhancers	HSMMtube	muscle
4	chr7:121169600-121170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:121169600-121171000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:121169600-121171400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:121169600-121171600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:121169600-121171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:121169600-121172000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:121169800-121172000	Enhancers	HMEC	breast
11	chr7:121170000-121170600	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:121170000-121170600	Enhancers	Stomach Mucosa	stomach
13	chr7:121170000-121170600	Flanking Active TSS	HSMM	muscle
14	chr7:121170000-121170800	Enhancers	Adipose Nuclei	Adipose
15	chr7:121170000-121171800	Enhancers	Hela-S3	cervix
16	chr7:121170000-121171800	Enhancers	NHEK	skin
17	chr7:121170200-121170600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:121170200-121170600	Enhancers	Fetal Intestine Small	intestine
19	chr7:121170200-121170600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr7:121170200-121170600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:121170200-121170800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:121170200-121170800	Enhancers	Esophagus	oesophagus
23	chr7:121170200-121171000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:121170200-121171400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:121170200-121171800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:121170400-121170800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:121170400-121170800	Enhancers	Fetal Muscle Leg	muscle
28	chr7:121170400-121170800	Enhancers	Placenta	Placenta
29	chr7:121170400-121170800	Enhancers	Fetal Stomach	stomach
30	chr7:121170400-121170800	Enhancers	A549	lung
31	chr7:121170400-121170800	Enhancers	GM12878-XiMat	blood
32	chr7:121170400-121171000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:121170400-121171000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:121170400-121171000	Enhancers	NHLF	lung
35	chr7:121170400-121171200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:121170400-121171200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:121170400-121171400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:121170400-121171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:121170400-121171800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:121170400-121171800	Enhancers	NH-A	brain
41	chr7:121170400-121171800	Enhancers	Osteobl	bone
42	chr7:121170400-121172000	Enhancers	Fetal Brain Male	brain
43	chr7:121170400-121172000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links