Variant report

Variant	rs7600777
Chromosome Location	chr2:211331045-211331046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211328360..211331054-chr2:211338768..211341669,2	K562	blood:

Variant related genes	Relation type
ENSG00000115365	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1468957	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844505	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844536	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844550	1.00[EUR][1000 genomes]
rs16844551	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844579	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844625	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098502	1.00[EUR][1000 genomes]
rs4263061	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59821750	1.00[EUR][1000 genomes]
rs60428496	1.00[EUR][1000 genomes]
rs60981818	1.00[EUR][1000 genomes]
rs61291087	1.00[EUR][1000 genomes]
rs6713369	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721139	1.00[EUR][1000 genomes]
rs6742717	1.00[EUR][1000 genomes]
rs6743023	1.00[EUR][1000 genomes]
rs6745362	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6750667	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs73069742	1.00[EUR][1000 genomes]
rs73069777	1.00[EUR][1000 genomes]
rs73069798	1.00[EUR][1000 genomes]
rs73071716	1.00[EUR][1000 genomes]
rs73071719	1.00[EUR][1000 genomes]
rs73071732	1.00[EUR][1000 genomes]
rs73071736	1.00[EUR][1000 genomes]
rs73984617	1.00[EUR][1000 genomes]
rs7560638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7569730	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571548	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571893	1.00[EUR][1000 genomes]
rs7600898	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
4	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
5	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
6	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:211301400-211334400	Weak transcription	NHEK	skin
12	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:211308000-211332400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:211315600-211337800	Strong transcription	Fetal Thymus	thymus
16	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:211315800-211337200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:211315800-211337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:211316000-211338000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:211316200-211337800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:211316200-211337800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:211316600-211339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:211316800-211338800	Strong transcription	Dnd41	blood
24	chr2:211318000-211337800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr2:211320000-211331200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:211320000-211333200	Weak transcription	NHLF	lung
27	chr2:211321000-211331400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:211321000-211334200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:211321200-211337600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:211322400-211340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:211322600-211340400	Weak transcription	K562	blood
32	chr2:211323200-211333200	Weak transcription	Pancreas	Pancrea
33	chr2:211323400-211331200	Weak transcription	Lung	lung
34	chr2:211323400-211331600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:211323400-211331800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:211323400-211331800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:211323400-211334000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:211323400-211336000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:211323400-211340200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:211324200-211333000	Weak transcription	Fetal Heart	heart
41	chr2:211324200-211336000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:211324800-211339000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:211325200-211333200	Weak transcription	Fetal Brain Male	brain
44	chr2:211325800-211340800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:211326200-211333200	Weak transcription	Esophagus	oesophagus
46	chr2:211326800-211333200	Weak transcription	HSMM	muscle
47	chr2:211326800-211338800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:211326800-211339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:211327000-211333200	Weak transcription	NHDF-Ad	bronchial
50	chr2:211327200-211338000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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