Variant report

Variant	rs61729688
Chromosome Location	chr2:98427633-98427634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98416559..98419447-chr2:98426233..98427931,2	K562	blood:
2	chr2:98426137..98428822-chr2:98433655..98435579,2	K562	blood:
3	chr2:98426712..98429107-chr2:98611975..98614059,2	MCF-7	breast:
4	chr2:98427579..98430220-chr2:98610918..98612535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1026015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022373	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022797	1.00[EUR][1000 genomes]
rs17022803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025147	0.85[EUR][1000 genomes]
rs17025319	0.83[AMR][1000 genomes]
rs2309314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704792	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737466	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6748814	1.00[EUR][1000 genomes]
rs72942819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
6	chr2:98406400-98469200	Weak transcription	A549	lung
7	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
8	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
10	chr2:98410000-98427800	Weak transcription	Spleen	Spleen
11	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
13	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
14	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
17	chr2:98410800-98432000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:98411000-98429200	Strong transcription	HSMM	muscle
19	chr2:98422000-98428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:98422000-98436200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:98422200-98428800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:98423400-98431000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:98423600-98430800	Strong transcription	Fetal Thymus	thymus
25	chr2:98423800-98429600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:98423800-98437200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:98424000-98427800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:98424000-98430800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:98424000-98438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
32	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:98424200-98428200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:98424200-98429800	Strong transcription	Primary T cells from cord blood	blood
35	chr2:98424200-98432000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:98424400-98430800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:98424400-98431000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:98424400-98431000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:98424600-98430800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:98424600-98430800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:98424600-98431000	Strong transcription	Placenta	Placenta
43	chr2:98424600-98431200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:98424600-98432200	Strong transcription	Liver	Liver
45	chr2:98424800-98429200	Strong transcription	Fetal Lung	lung
46	chr2:98424800-98429200	Strong transcription	Osteobl	bone
47	chr2:98424800-98430800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:98424800-98430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:98424800-98430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:98424800-98430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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