Variant report

Variant	rs61354588
Chromosome Location	chr2:128230488-128230489
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128220774..128223723-chr2:128228116..128231015,2	K562	blood:
2	chr2:128223739..128227156-chr2:128228484..128231083,5	K562	blood:

Variant related genes	Relation type
ENSG00000231731	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10210579	0.83[AMR][1000 genomes]
rs11896327	0.85[AMR][1000 genomes]
rs11902626	0.85[AMR][1000 genomes]
rs13431184	0.83[AMR][1000 genomes]
rs57539465	1.00[AMR][1000 genomes]
rs61620809	0.85[AMR][1000 genomes]
rs6708162	0.83[AMR][1000 genomes]
rs6747614	0.85[AMR][1000 genomes]
rs6753174	1.00[AFR][1000 genomes];1.00[AMR][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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	esv3693423	chr2:128223875-128230794	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:128206800-128233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
9	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
11	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
15	chr2:128216200-128233600	Weak transcription	GM12878-XiMat	blood
16	chr2:128219800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
18	chr2:128221600-128237400	Weak transcription	HSMM	muscle
19	chr2:128221600-128237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:128222200-128237800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:128222400-128237600	Weak transcription	Osteobl	bone
22	chr2:128222400-128237800	Weak transcription	Fetal Brain Female	brain
23	chr2:128222600-128237000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:128222600-128237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:128222800-128233400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:128222800-128237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:128222800-128237800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:128222800-128239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:128223000-128237600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:128223200-128237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:128223200-128237000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:128223200-128237600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:128223200-128237600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:128223200-128237800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:128223200-128237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:128223400-128237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:128223800-128238400	Weak transcription	K562	blood
39	chr2:128224000-128241800	Weak transcription	Small Intestine	intestine
40	chr2:128224600-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:128224800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:128225800-128233400	Weak transcription	HUVEC	blood vessel
43	chr2:128226200-128244000	Weak transcription	Psoas Muscle	Psoas
44	chr2:128227400-128233000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:128227400-128233000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:128227400-128237800	Weak transcription	Primary B cells from cord blood	blood
47	chr2:128227400-128237800	Weak transcription	A549	lung
48	chr2:128227400-128238800	Weak transcription	Ovary	ovary
49	chr2:128227600-128236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:128227600-128237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links