Variant report

Variant	rs62473149
Chromosome Location	chr7:111981588-111981589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111979755..111984894-chr7:111986750..111988962,5	K562	blood:
2	chr7:111981020..111983369-chr7:111995911..111998371,2	MCF-7	breast:
3	chr7:111975441..111977682-chr7:111980035..111981752,2	MCF-7	breast:
4	chr7:111977606..111981678-chr7:112089523..112092927,4	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2006275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016864	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396531	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396532	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4425678	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473060	0.85[AMR][1000 genomes]
rs62473127	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62473129	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473137	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62473139	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62473141	0.87[EUR][1000 genomes]
rs62473143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473145	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473146	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473147	1.00[EUR][1000 genomes]
rs62473148	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473150	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473152	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473153	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473154	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473156	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62473960	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474000	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474001	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474003	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474007	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474009	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474010	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62474011	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474012	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62474014	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960155	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971079	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs736760	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739746	0.86[AMR][1000 genomes];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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
2	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
4	chr7:111956200-111982400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:111956200-111983200	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:111959000-111982400	Weak transcription	HUVEC	blood vessel
8	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
10	chr7:111961800-111986000	Weak transcription	K562	blood
11	chr7:111962200-111982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:111963800-111984400	Weak transcription	HMEC	breast
13	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:111965800-111981800	Weak transcription	Colonic Mucosa	Colon
15	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
17	chr7:111966000-111981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:111966000-111983200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
20	chr7:111966000-111989600	Weak transcription	Gastric	stomach
21	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
22	chr7:111966600-111981600	Weak transcription	Fetal Stomach	stomach
23	chr7:111966600-111984800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:111967600-111982200	Weak transcription	Aorta	Aorta
27	chr7:111967600-111983600	Weak transcription	Pancreas	Pancrea
28	chr7:111967600-111986800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:111968400-111985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:111968600-111981800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:111969000-111982600	Weak transcription	NH-A	brain
32	chr7:111969400-111985400	Strong transcription	Dnd41	blood
33	chr7:111971000-111984000	Strong transcription	Primary T cells from cord blood	blood
34	chr7:111971800-111982800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:111972800-111981600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:111973400-111984400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:111974600-111985400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:111974800-111985000	Strong transcription	Liver	Liver
39	chr7:111975400-111984400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:111977200-111983200	Weak transcription	Fetal Heart	heart
41	chr7:111977400-111982600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:111977400-111983200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:111977400-111983200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:111977400-111983400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:111977400-111984400	Strong transcription	Adipose Nuclei	Adipose
46	chr7:111977600-111983200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:111977600-111983800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:111977600-111983800	Strong transcription	Fetal Thymus	thymus
49	chr7:111977600-111984400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:111977600-111991000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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