Variant report

Variant	rs405073
Chromosome Location	chr7:101717686-101717687
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101715723..101719126-chr7:101720326..101723914,4	K562	blood:
2	chr7:101717039..101718587-chr7:101722028..101724096,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10268506	1.00[CHB][hapmap]
rs365397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366345	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367773	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs375417	0.88[CEU][hapmap]
rs376183	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs377587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377612	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380934	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406012	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs409420	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs411844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412332	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412524	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413348	1.00[ASN][1000 genomes]
rs420709	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs421154	1.00[ASN][1000 genomes]
rs421430	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425577	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4294126	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430154	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432002	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432600	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs438908	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441160	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443159	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443293	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729771	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185898	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv607985	chr7:101683563-101718950	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:101708200-101722000	Weak transcription	NH-A	brain
4	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
6	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:101708400-101720400	Weak transcription	HMEC	breast
8	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
10	chr7:101708400-101726000	Weak transcription	NHEK	skin
11	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
12	chr7:101711000-101723200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:101712000-101718000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:101712000-101719600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:101712400-101718800	Strong transcription	Fetal Intestine Large	intestine
16	chr7:101712800-101719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:101712800-101721800	Weak transcription	Fetal Heart	heart
18	chr7:101714000-101720400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:101714200-101721800	Weak transcription	Hela-S3	cervix
20	chr7:101714800-101718800	Strong transcription	Primary B cells from cord blood	blood
21	chr7:101715000-101722800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:101715200-101718000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:101715200-101719200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:101715200-101720000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:101715200-101723000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:101715200-101723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:101715200-101723200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:101715200-101725800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:101715200-101728600	Weak transcription	Colonic Mucosa	Colon
30	chr7:101715200-101749800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:101715400-101718800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr7:101715400-101719400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:101715400-101719800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:101715400-101719800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:101715400-101719800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:101715400-101723000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:101715400-101723000	Weak transcription	Fetal Lung	lung
38	chr7:101715400-101724000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:101715400-101749600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:101715600-101719800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:101715600-101719800	Strong transcription	Fetal Thymus	thymus
42	chr7:101715600-101720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:101715600-101720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:101715600-101723000	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:101715600-101723000	Weak transcription	Fetal Brain Female	brain
46	chr7:101715600-101723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:101715600-101724200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:101715600-101725000	Weak transcription	Ovary	ovary
49	chr7:101715600-101725200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:101715600-101725200	Weak transcription	HSMM	muscle

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