Variant report

Variant	rs62183762
Chromosome Location	chr2:172828798-172828799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172826699..172829130-chrX:150149661..150152442,2	MCF-7	breast:
2	chr2:172749569..172751818-chr2:172827980..172831224,3	K562	blood:
3	chr2:172825003..172826821-chr2:172828092..172830366,2	K562	blood:
4	chr2:172749706..172751818-chr2:172827980..172829816,2	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000029993	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17428076	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55864623	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56133507	0.87[AMR][1000 genomes]
rs56218609	0.82[ASN][1000 genomes]
rs56401580	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62182425	0.81[AMR][1000 genomes]
rs62182429	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182430	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182432	0.83[AMR][1000 genomes]
rs62182437	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182439	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62182444	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62182446	0.87[AMR][1000 genomes]
rs62183763	0.87[AMR][1000 genomes]
rs62183765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183776	0.87[AMR][1000 genomes]
rs72889094	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72890841	0.87[AMR][1000 genomes]
rs72890842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
6	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:172796000-172855200	Weak transcription	Gastric	stomach
8	chr2:172796800-172832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
10	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
11	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
13	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
17	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
18	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
19	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
20	chr2:172815200-172835800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
22	chr2:172816800-172844200	Weak transcription	NHLF	lung
23	chr2:172817800-172833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:172817800-172833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
26	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:172821800-172831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:172822000-172833800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:172822000-172835800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:172822200-172830600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:172822600-172833800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:172822800-172835000	Strong transcription	Dnd41	blood
35	chr2:172823000-172833600	Weak transcription	Left Ventricle	heart
36	chr2:172823000-172835400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
38	chr2:172823200-172829000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:172823200-172833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:172823200-172835800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:172823800-172831000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:172823800-172833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:172823800-172839800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:172823800-172842600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
49	chr2:172824000-172829400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:172824000-172833000	Weak transcription	Fetal Intestine Large	intestine

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