Variant report

Variant	rs7599690
Chromosome Location	chr2:113511131-113511132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113510501..113512344-chr2:113514021..113515645,2	K562	blood:
2	chr2:113508862..113511630-chr2:113521788..113524103,2	K562	blood:
3	chr2:113509898..113511431-chr2:113516131..113518269,2	K562	blood:
4	chr2:113499878..113502377-chr2:113510716..113513053,2	K562	blood:
5	chr2:113509910..113512793-chr2:113641037..113644558,4	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165537	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10187872	0.81[EUR][1000 genomes]
rs10193063	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200192	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203064	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123148	0.81[EUR][1000 genomes]
rs11123149	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463996	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475027	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622683	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13013602	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13015273	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13016817	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13019249	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13026263	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13036237	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13382217	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13429613	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17649681	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2862226	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3811040	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827761	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4261731	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848298	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849118	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55762606	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58694576	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6706663	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712572	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721044	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721292	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753803	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7577241	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591704	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7594852	0.95[EUR][1000 genomes]
rs7607470	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
4	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
8	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
12	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:113499000-113511400	Weak transcription	Gastric	stomach
14	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:113500000-113511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:113500400-113511400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:113505400-113511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:113505400-113511400	Weak transcription	Placenta	Placenta
20	chr2:113505600-113513400	Weak transcription	Hela-S3	cervix
21	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:113507000-113511600	Genic enhancers	HepG2	liver
23	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:113507400-113511400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:113507400-113513000	Enhancers	Liver	Liver
26	chr2:113507400-113513800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:113507400-113519200	Strong transcription	K562	blood
28	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:113507800-113512200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:113507800-113513600	Weak transcription	Fetal Brain Female	brain
32	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:113508000-113511200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:113508000-113511400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:113508000-113511800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:113508000-113511800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:113508000-113512400	Weak transcription	Primary B cells from cord blood	blood
38	chr2:113508000-113514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
40	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:113508200-113511400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:113508200-113511400	Weak transcription	NHLF	lung
43	chr2:113508200-113511600	Weak transcription	Fetal Stomach	stomach
44	chr2:113508200-113511600	Strong transcription	Dnd41	blood
45	chr2:113508200-113511800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:113508200-113512400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:113508200-113515400	Enhancers	Fetal Intestine Small	intestine
48	chr2:113508200-113517800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:113508200-113519600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus

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