Variant report

Variant	rs62157965
Chromosome Location	chr2:99182262-99182263
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12611496	1.00[AMR][1000 genomes]
rs62156353	0.86[EUR][1000 genomes]
rs62157964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62157967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99136400-99185400	Weak transcription	Hela-S3	cervix
2	chr2:99147200-99200200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:99156400-99197000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:99158800-99190600	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:99159800-99201600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:99163000-99215000	Weak transcription	HMEC	breast
11	chr2:99163800-99194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:99167600-99193400	Weak transcription	Fetal Heart	heart
14	chr2:99168000-99205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:99168400-99210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:99168600-99197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:99169400-99185200	Weak transcription	Fetal Kidney	kidney
18	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:99169600-99184400	Weak transcription	NHEK	skin
20	chr2:99172000-99183600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:99173000-99186000	Weak transcription	Stomach Mucosa	stomach
22	chr2:99173200-99205000	Strong transcription	Primary T cells from cord blood	blood
23	chr2:99173400-99204800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:99174000-99204000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:99174600-99207800	Weak transcription	HUVEC	blood vessel
26	chr2:99176000-99205400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:99176200-99203400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:99176200-99210600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:99176400-99205200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:99177000-99182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:99177200-99182600	Weak transcription	HepG2	liver
32	chr2:99177200-99185400	Strong transcription	GM12878-XiMat	blood
33	chr2:99177200-99190800	Strong transcription	Brain Anterior Caudate	brain
34	chr2:99177400-99182400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:99177400-99185000	Weak transcription	HSMM	muscle
36	chr2:99177400-99201600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:99177400-99210800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:99177400-99213000	Weak transcription	NHDF-Ad	bronchial
39	chr2:99177400-99216200	Weak transcription	NH-A	brain
40	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
41	chr2:99178200-99201400	Strong transcription	Fetal Stomach	stomach
42	chr2:99178600-99186200	Genic enhancers	Fetal Thymus	thymus
43	chr2:99178600-99186600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:99178600-99189800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:99178600-99190600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:99178800-99182400	Genic enhancers	Dnd41	blood
47	chr2:99178800-99193800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:99178800-99201200	Strong transcription	Spleen	Spleen
49	chr2:99179000-99186600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:99179200-99183600	Genic enhancers	Thymus	Thymus

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