Variant report

Variant	rs848615
Chromosome Location	chr2:36812960-36812961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36809435..36813840-chr2:36817141..36820574,5	K562	blood:
2	chr2:36812076..36814059-chr2:36815081..36816601,2	K562	blood:
3	chr2:36812578..36815490-chr2:36816543..36819485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256845	Chromatin interaction
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1179496	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2270333	0.94[CHB][hapmap]
rs711246	0.88[CHB][hapmap]
rs848516	0.94[CHB][hapmap]
rs848599	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs848609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs848618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs848626	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs848628	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs848632	0.94[ASN][1000 genomes]
rs848633	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs848634	0.94[ASN][1000 genomes]
rs848641	0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
3	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:36793200-36816600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:36797000-36814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:36797800-36813400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:36798000-36818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:36798200-36818000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:36798400-36818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:36799200-36817400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:36799200-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:36799200-36818200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:36799200-36819200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:36799800-36818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:36800200-36814400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:36800200-36817600	Strong transcription	Liver	Liver
20	chr2:36801000-36817800	Strong transcription	HUVEC	blood vessel
21	chr2:36801400-36813200	Strong transcription	Fetal Lung	lung
22	chr2:36801600-36818000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:36801600-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:36801800-36813800	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:36801800-36814600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:36801800-36816200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:36801800-36817200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:36801800-36818400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:36802000-36818000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:36802400-36815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:36803200-36813400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:36803600-36818000	Strong transcription	Dnd41	blood
34	chr2:36803800-36814600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:36804600-36814000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:36804600-36814200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:36804600-36814800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:36806200-36814000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:36806400-36818400	Strong transcription	HepG2	liver
40	chr2:36806800-36818200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:36807000-36813400	Strong transcription	Hela-S3	cervix
42	chr2:36807200-36813400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:36807200-36815200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:36807200-36818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:36807600-36816400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
47	chr2:36808000-36814200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:36808600-36818200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney

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