Variant report

Variant	rs6721292
Chromosome Location	chr2:113506375-113506376
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:
2	chr2:113504578..113507107-chr2:113715041..113717876,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10165537	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10187872	0.96[EUR][1000 genomes]
rs10193063	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10200192	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10203064	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123148	0.96[EUR][1000 genomes]
rs11123149	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12463996	0.92[ASN][1000 genomes]
rs12475027	0.88[ASN][1000 genomes]
rs12622683	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13013602	0.93[ASN][1000 genomes]
rs13015273	0.82[EUR][1000 genomes]
rs13016817	0.82[EUR][1000 genomes]
rs13019249	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13026263	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13036237	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13382217	0.91[ASN][1000 genomes]
rs13429613	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17649681	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2862226	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811040	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827761	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4261731	0.91[ASN][1000 genomes]
rs4848298	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849118	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55762606	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6706663	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6712572	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721044	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753803	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7577241	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7591704	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599690	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7607470	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
3	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
6	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
8	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
9	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
12	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:113494800-113507000	Strong transcription	Dnd41	blood
16	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
18	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:113496200-113507400	Weak transcription	Primary T cells from cord blood	blood
21	chr2:113496200-113508800	Strong transcription	A549	lung
22	chr2:113496800-113509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:113498000-113507400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:113498600-113507600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
27	chr2:113499000-113507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:113499000-113511400	Weak transcription	Gastric	stomach
30	chr2:113499200-113507400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:113499200-113507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:113499200-113507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:113499200-113507400	Weak transcription	Brain Germinal Matrix	brain
34	chr2:113499200-113507600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:113499200-113508800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:113499200-113509400	Weak transcription	Fetal Kidney	kidney
37	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:113499800-113507400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:113500000-113511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:113500200-113507000	Weak transcription	NHLF	lung
41	chr2:113500200-113511000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:113500400-113511400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:113501800-113506400	Strong transcription	GM12878-XiMat	blood
45	chr2:113501800-113507000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:113501800-113507000	Strong transcription	HepG2	liver
47	chr2:113502400-113507400	Weak transcription	Fetal Stomach	stomach
48	chr2:113502400-113507400	Weak transcription	Thymus	Thymus
49	chr2:113502400-113507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:113502400-113507600	Weak transcription	Fetal Muscle Trunk	muscle

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