Variant report

Variant	rs7608368
Chromosome Location	chr2:180005526-180005527
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	chr2:180005469..180007805-chr2:180127766..180130374,2	MCF-7	breast:
2	chr2:180005225..180008035-chr2:180008843..180011202,2	K562	blood:

Variant related genes	Relation type
ENSG00000187231	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6742206	0.91[AFR][1000 genomes]
rs6756151	0.91[AFR][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv3060	chr2:179990791-180035511	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179971600-180012600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:179972800-180014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:179973000-180007200	Weak transcription	GM12878-XiMat	blood
4	chr2:179973400-180006800	Weak transcription	Small Intestine	intestine
5	chr2:179973400-180012600	Weak transcription	NHLF	lung
6	chr2:179973400-180030200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
9	chr2:179978200-180014600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:179980000-180038800	Weak transcription	HMEC	breast
11	chr2:179980000-180056800	Weak transcription	HSMM	muscle
12	chr2:179980400-180005600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:179981400-180016800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:179985000-180025600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:179985600-180005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:179985800-180005800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:179985800-180010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:179986200-180006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:179986600-180030400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:179991600-180005600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:179991600-180007200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:179991600-180043200	Weak transcription	Psoas Muscle	Psoas
23	chr2:179991800-180006000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:179992200-180014600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:179992400-180005600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:179994800-180005600	Weak transcription	Fetal Heart	heart
27	chr2:179995800-180016200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:179996200-180047600	Weak transcription	NH-A	brain
29	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
30	chr2:179999800-180009600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:180000600-180016200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:180000600-180016200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:180001200-180016200	Strong transcription	HepG2	liver
34	chr2:180001800-180009000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:180002000-180011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:180002400-180006000	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:180002400-180008600	Strong transcription	Adipose Nuclei	Adipose
38	chr2:180002400-180012800	Weak transcription	NHEK	skin
39	chr2:180002400-180016400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:180002400-180030200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:180003000-180007400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:180003000-180007600	Strong transcription	Fetal Lung	lung
43	chr2:180003000-180009000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:180003200-180011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:180003200-180011600	Weak transcription	A549	lung
46	chr2:180003200-180039800	Weak transcription	Brain Germinal Matrix	brain
47	chr2:180003400-180006400	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:180003800-180016200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:180004000-180006200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr2:180004000-180006400	Strong transcription	Primary hematopoietic stem cells	blood

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