Variant report

Variant	rs73301046
Chromosome Location	chr7:12261247-12261248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12260062..12264264-chr7:12265480..12268188,5	K562	blood:
2	chr7:12256580..12259981-chr7:12260401..12263217,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10488200	1.00[EUR][1000 genomes]
rs10488201	1.00[EUR][1000 genomes]
rs10488202	1.00[EUR][1000 genomes]
rs10488203	1.00[EUR][1000 genomes]
rs10488205	1.00[EUR][1000 genomes]
rs17165572	1.00[EUR][1000 genomes]
rs17165583	1.00[EUR][1000 genomes]
rs17165585	1.00[EUR][1000 genomes]
rs17165586	1.00[EUR][1000 genomes]
rs17165587	1.00[EUR][1000 genomes]
rs17165589	1.00[EUR][1000 genomes]
rs17165590	1.00[EUR][1000 genomes]
rs17165591	1.00[EUR][1000 genomes]
rs17165602	1.00[EUR][1000 genomes]
rs17165605	1.00[EUR][1000 genomes]
rs17165607	1.00[EUR][1000 genomes]
rs17165608	1.00[EUR][1000 genomes]
rs17165609	1.00[EUR][1000 genomes]
rs17165617	1.00[EUR][1000 genomes]
rs17165620	1.00[EUR][1000 genomes]
rs17165621	1.00[EUR][1000 genomes]
rs17165622	1.00[EUR][1000 genomes]
rs17165647	1.00[EUR][1000 genomes]
rs17165736	0.85[AFR][1000 genomes]
rs17165737	0.85[AFR][1000 genomes]
rs17165744	0.85[AFR][1000 genomes]
rs17165746	0.85[AFR][1000 genomes]
rs17165750	0.82[AFR][1000 genomes]
rs17165810	1.00[EUR][1000 genomes]
rs17165812	1.00[EUR][1000 genomes]
rs2110714	1.00[EUR][1000 genomes]
rs2192835	1.00[EUR][1000 genomes]
rs4721033	1.00[EUR][1000 genomes]
rs4721034	1.00[EUR][1000 genomes]
rs60576080	1.00[EUR][1000 genomes]
rs60894519	1.00[EUR][1000 genomes]
rs61400397	1.00[EUR][1000 genomes]
rs6952547	1.00[EUR][1000 genomes]
rs6973077	1.00[EUR][1000 genomes]
rs6978684	0.85[AFR][1000 genomes]
rs73284389	0.84[AFR][1000 genomes]
rs73287176	1.00[EUR][1000 genomes]
rs73288387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299019	0.82[AFR][1000 genomes]
rs73299037	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299040	0.80[AFR][1000 genomes]
rs73301035	0.85[AFR][1000 genomes]
rs73678628	1.00[EUR][1000 genomes]
rs73678641	1.00[EUR][1000 genomes]
rs73678643	1.00[EUR][1000 genomes]
rs73678645	1.00[EUR][1000 genomes]
rs73678692	0.82[AFR][1000 genomes]
rs7777276	1.00[EUR][1000 genomes]
rs7785068	1.00[EUR][1000 genomes]
rs7790766	1.00[EUR][1000 genomes]
rs7791073	1.00[EUR][1000 genomes]
rs7791085	1.00[EUR][1000 genomes]
rs7807215	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 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	chr7:12252000-12263600	Weak transcription	Thymus	Thymus
2	chr7:12252000-12266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
8	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
9	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
10	chr7:12252200-12262200	Weak transcription	GM12878-XiMat	blood
11	chr7:12252200-12263600	Weak transcription	NH-A	brain
12	chr7:12252200-12263800	Weak transcription	Osteobl	bone
13	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:12252400-12262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:12252400-12263200	Weak transcription	Left Ventricle	heart
17	chr7:12252400-12263400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:12252400-12265800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:12252400-12266000	Weak transcription	Small Intestine	intestine
20	chr7:12252400-12269400	Weak transcription	HUVEC	blood vessel
21	chr7:12252400-12271200	Weak transcription	K562	blood
22	chr7:12252400-12271400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:12252400-12272600	Weak transcription	Gastric	stomach
24	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
25	chr7:12252400-12278600	Weak transcription	NHEK	skin
26	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
27	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:12252600-12264000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:12252600-12271000	Weak transcription	Fetal Heart	heart
30	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
32	chr7:12252800-12272600	Weak transcription	Hela-S3	cervix
33	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:12253200-12272400	Weak transcription	HepG2	liver
35	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
36	chr7:12254400-12264600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:12254600-12262200	Strong transcription	Fetal Thymus	thymus
38	chr7:12254800-12266200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:12255000-12261400	Strong transcription	Fetal Intestine Large	intestine
40	chr7:12255200-12279000	Strong transcription	Liver	Liver
41	chr7:12256400-12269400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:12256400-12271000	Weak transcription	Fetal Stomach	stomach
43	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
44	chr7:12256600-12263400	Weak transcription	Ovary	ovary
45	chr7:12256600-12270600	Weak transcription	Lung	lung
46	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:12257200-12278400	Weak transcription	Fetal Brain Female	brain
48	chr7:12258200-12261400	Strong transcription	Fetal Kidney	kidney
49	chr7:12258400-12261400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:12258400-12264800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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