Variant report

Variant	rs1524421
Chromosome Location	chr7:102630187-102630188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102629638..102632111-chr7:102696219..102697817,2	K562	blood:
2	chr7:102628465..102631626-chr7:102631792..102634551,3	MCF-7	breast:
3	chr7:102629921..102632610-chr7:102634773..102637196,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10233506	0.87[AFR][1000 genomes]
rs1533999	1.00[AMR][1000 genomes]
rs1543987	1.00[AMR][1000 genomes]
rs1608650	1.00[AMR][1000 genomes]
rs1969430	0.87[AFR][1000 genomes]
rs2177550	0.80[YRI][hapmap]
rs4729863	0.84[AFR][1000 genomes]
rs6945963	1.00[AMR][1000 genomes]
rs6976639	0.90[YRI][hapmap]
rs7806691	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs847650	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847651	1.00[AMR][1000 genomes]
rs9649252	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:102625800-102632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102626000-102630400	Weak transcription	HUVEC	blood vessel
5	chr7:102626200-102630600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:102626200-102631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:102626400-102631000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:102626400-102631000	Weak transcription	NHDF-Ad	bronchial
9	chr7:102626400-102631000	Weak transcription	NHEK	skin
10	chr7:102626400-102631200	Weak transcription	NH-A	brain
11	chr7:102626400-102631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:102626600-102630400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:102626600-102630400	Weak transcription	Osteobl	bone
14	chr7:102626600-102630600	Weak transcription	HMEC	breast
15	chr7:102627800-102631800	Genic enhancers	K562	blood
16	chr7:102628200-102631600	Enhancers	Ovary	ovary
17	chr7:102628400-102631200	Enhancers	Hela-S3	cervix
18	chr7:102629000-102631200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:102629000-102634200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:102629000-102634400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:102629200-102630200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:102629400-102630200	Enhancers	Aorta	Aorta
23	chr7:102629400-102630200	Enhancers	Left Ventricle	heart
24	chr7:102629400-102630200	Enhancers	Stomach Mucosa	stomach
25	chr7:102629400-102630600	Bivalent Enhancer	HepG2	liver
26	chr7:102629400-102631600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:102629400-102631800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:102629400-102632000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:102629400-102633400	Enhancers	Pancreas	Pancrea
30	chr7:102629400-102633600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:102629600-102632600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:102629800-102630200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:102629800-102630200	Enhancers	Gastric	stomach
34	chr7:102629800-102630200	Enhancers	Spleen	Spleen
35	chr7:102629800-102631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:102630000-102631000	Weak transcription	A549	lung
37	chr7:102630000-102631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:102630000-102631400	Enhancers	Right Atrium	heart

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