Variant report

Variant	rs4669597
Chromosome Location	chr2:10730661-10730662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10730122..10732482-chr2:10737387..10739514,4	K562	blood:
2	chr2:10723207..10725627-chr2:10730117..10731698,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10207845	0.82[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes]
rs1023587	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1023588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1045596	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10490187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929675	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs11673879	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681219	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12476022	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12621903	0.91[EUR][1000 genomes]
rs12998328	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs13011439	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs13019722	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13035291	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990614	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2015525	0.90[EUR][1000 genomes]
rs2110779	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2160257	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2287063	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34140737	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34562923	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34565728	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34851538	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34965800	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35364825	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35454548	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35587360	0.87[ASN][1000 genomes]
rs35688901	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36065209	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3732111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732114	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs3815520	0.96[CHB][hapmap];0.85[ASN][1000 genomes]
rs3821195	0.96[CHB][hapmap]
rs3821196	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4668688	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs4668692	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669600	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4669601	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56403646	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56902481	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59199925	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62127163	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62127196	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432106	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432108	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432127	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432129	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6716907	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733161	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6744848	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs6748865	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs6752034	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6752145	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6757809	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7579314	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7594513	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7594805	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs7594816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9678985	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
7	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:10717600-10732400	Weak transcription	Fetal Brain Male	brain
9	chr2:10718000-10732000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:10719800-10746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:10720000-10746400	Strong transcription	Dnd41	blood
12	chr2:10720400-10740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:10720800-10739200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:10721200-10734600	Strong transcription	GM12878-XiMat	blood
16	chr2:10721200-10746800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:10721400-10731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:10721400-10735800	Strong transcription	Primary T cells from cord blood	blood
19	chr2:10721600-10731800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:10721600-10735600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:10722000-10735200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:10722000-10738200	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:10722400-10734800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:10722400-10735200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:10722800-10731400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:10722800-10732400	Strong transcription	Fetal Thymus	thymus
27	chr2:10722800-10741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:10724000-10735600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:10724200-10730800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:10724600-10731400	Weak transcription	Esophagus	oesophagus
31	chr2:10725600-10744000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:10725600-10758800	Weak transcription	Stomach Mucosa	stomach
33	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
35	chr2:10726000-10731400	Strong transcription	Osteobl	bone
36	chr2:10726000-10732400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:10726000-10738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:10726000-10746200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:10726000-10747600	Strong transcription	HepG2	liver
40	chr2:10726200-10732800	Strong transcription	Fetal Stomach	stomach
41	chr2:10727000-10731000	Strong transcription	A549	lung
42	chr2:10727200-10733000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:10727400-10731400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:10727400-10732600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:10727400-10736200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:10727600-10732600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:10727600-10732600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:10727600-10732600	Strong transcription	Thymus	Thymus
49	chr2:10727600-10734600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:10727600-10737000	Strong transcription	Fetal Intestine Small	intestine

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