Variant report

Variant	rs60274229
Chromosome Location	chr7:21473300-21473301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21470159..21472152-chr7:21472473..21475281,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2237304	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2237305	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2282891	0.81[ASN][1000 genomes]
rs2282893	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs253426	0.82[EUR][1000 genomes]
rs253427	0.82[EUR][1000 genomes]
rs253428	0.82[EUR][1000 genomes]
rs39292	0.84[EUR][1000 genomes]
rs39293	0.83[EUR][1000 genomes]
rs39294	0.84[EUR][1000 genomes]
rs39296	0.82[EUR][1000 genomes]
rs39300	0.86[EUR][1000 genomes]
rs39304	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59497715	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6943809	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6954187	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6976865	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778625	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:21468600-21476600	Weak transcription	NHEK	skin
4	chr7:21468600-21478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:21468600-21488600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:21468800-21489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:21468800-21493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:21469000-21474800	Weak transcription	A549	lung
10	chr7:21469000-21483800	Weak transcription	Adipose Nuclei	Adipose
11	chr7:21469800-21474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:21470000-21488600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:21470000-21490400	Weak transcription	Fetal Kidney	kidney
14	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:21470200-21488600	Weak transcription	Gastric	stomach
16	chr7:21470200-21490600	Weak transcription	Psoas Muscle	Psoas
17	chr7:21470200-21494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:21470400-21477400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:21470400-21481000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:21470400-21488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:21470400-21490600	Weak transcription	Pancreas	Pancrea
22	chr7:21470400-21494600	Weak transcription	Fetal Stomach	stomach
23	chr7:21470400-21516600	Weak transcription	Liver	Liver
24	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
25	chr7:21470600-21475200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:21470600-21477400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:21470600-21490800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:21471400-21480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:21471600-21474800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:21471600-21488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:21471800-21484000	Weak transcription	HUVEC	blood vessel
32	chr7:21471800-21486600	Weak transcription	Aorta	Aorta
33	chr7:21472000-21474400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:21472000-21474800	Enhancers	Brain Angular Gyrus	brain
35	chr7:21472000-21483800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:21472000-21483800	Weak transcription	Fetal Lung	lung
37	chr7:21472000-21487200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:21472000-21488600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:21472000-21488800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:21472000-21489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:21472200-21473600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:21472200-21473600	Enhancers	Fetal Brain Male	brain
45	chr7:21472200-21474200	Enhancers	Primary T cells from cord blood	blood
46	chr7:21472200-21474200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:21472200-21475800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:21472200-21476000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:21472200-21478600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:21472200-21482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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