Variant report

Variant	rs67245174
Chromosome Location	chr7:101716295-101716296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101458190..101460276-chr7:101714926..101717278,2	MCF-7	breast:
2	chr7:101715723..101719126-chr7:101720326..101723914,4	K562	blood:
3	chr7:101714618..101716538-chr7:101724031..101725533,2	K562	blood:
4	chr7:101714618..101716441-chr7:101723476..101725531,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10231704	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10243429	0.86[ASN][1000 genomes]
rs10245459	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10245816	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10246310	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10249739	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10252737	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10259857	0.86[ASN][1000 genomes]
rs10261132	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10271376	0.86[ASN][1000 genomes]
rs10271680	0.86[ASN][1000 genomes]
rs10277680	0.86[ASN][1000 genomes]
rs11975153	0.86[ASN][1000 genomes]
rs11975663	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11979916	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11982462	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537930	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12538286	0.86[ASN][1000 genomes]
rs12538702	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12539349	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12539846	0.86[ASN][1000 genomes]
rs12540846	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17410356	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17495148	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17495210	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17496657	0.86[ASN][1000 genomes]
rs28401723	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28502241	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28603325	0.86[ASN][1000 genomes]
rs28715744	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55704423	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55851631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55974420	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58414903	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59220714	0.86[ASN][1000 genomes]
rs6465850	0.86[ASN][1000 genomes]
rs67737740	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6959475	0.86[ASN][1000 genomes]
rs6959827	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73185880	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73185883	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73185884	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73187803	0.86[ASN][1000 genomes]
rs73187816	0.86[ASN][1000 genomes]
rs7776498	0.86[ASN][1000 genomes]
rs7798358	0.86[ASN][1000 genomes]
rs7807344	0.86[ASN][1000 genomes]
rs9655773	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9655774	0.86[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101705600-101717400	Weak transcription	Pancreas	Pancrea
2	chr7:101707200-101738000	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:101707600-101716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:101708000-101722800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:101708200-101722000	Weak transcription	NH-A	brain
6	chr7:101708200-101723000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:101708200-101765000	Weak transcription	Small Intestine	intestine
8	chr7:101708400-101720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:101708400-101720400	Weak transcription	HMEC	breast
10	chr7:101708400-101722800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:101708400-101722800	Weak transcription	Right Atrium	heart
12	chr7:101708400-101726000	Weak transcription	NHEK	skin
13	chr7:101709400-101720000	Strong transcription	Fetal Stomach	stomach
14	chr7:101711000-101723200	Weak transcription	Brain Angular Gyrus	brain
15	chr7:101711800-101717000	Strong transcription	HepG2	liver
16	chr7:101712000-101718000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:101712000-101719600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:101712400-101718800	Strong transcription	Fetal Intestine Large	intestine
19	chr7:101712800-101719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:101712800-101721800	Weak transcription	Fetal Heart	heart
21	chr7:101713000-101716400	ZNF genes & repeats	GM12878-XiMat	blood
22	chr7:101714000-101716400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:101714000-101717000	Weak transcription	Stomach Mucosa	stomach
24	chr7:101714000-101720400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:101714200-101721800	Weak transcription	Hela-S3	cervix
26	chr7:101714800-101718800	Strong transcription	Primary B cells from cord blood	blood
27	chr7:101715000-101722800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:101715200-101717400	Weak transcription	Esophagus	oesophagus
29	chr7:101715200-101717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:101715200-101718000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:101715200-101719200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:101715200-101720000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:101715200-101723000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:101715200-101723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:101715200-101723200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:101715200-101725800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:101715200-101728600	Weak transcription	Colonic Mucosa	Colon
38	chr7:101715200-101749800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:101715400-101717200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:101715400-101717200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:101715400-101717200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:101715400-101718800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:101715400-101719400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:101715400-101719800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:101715400-101719800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:101715400-101719800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:101715400-101723000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:101715400-101723000	Weak transcription	Fetal Lung	lung
49	chr7:101715400-101724000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:101715400-101749600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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