Variant report

Variant	rs12991642
Chromosome Location	chr2:173061750-173061751
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	chr2:173061279..173063058-chr2:173066457..173068997,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11893581	1.00[ASN][1000 genomes]
rs11898023	1.00[ASN][1000 genomes]
rs13005487	1.00[ASN][1000 genomes]
rs13014155	1.00[ASN][1000 genomes]
rs13024942	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031965	1.00[ASN][1000 genomes]
rs17219125	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34238606	1.00[ASN][1000 genomes]
rs34517309	1.00[ASN][1000 genomes]
rs35031958	1.00[ASN][1000 genomes]
rs35123448	1.00[ASN][1000 genomes]
rs35334306	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35434134	1.00[ASN][1000 genomes]
rs35768968	1.00[ASN][1000 genomes]
rs35940741	1.00[ASN][1000 genomes]
rs36027698	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56789785	1.00[ASN][1000 genomes]
rs67130328	1.00[ASN][1000 genomes]
rs6723339	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751665	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759270	0.84[EUR][1000 genomes]
rs9749973	0.83[EUR][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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173060200-173061800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:173060200-173061800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:173060400-173062400	Enhancers	Stomach Mucosa	stomach
4	chr2:173060600-173062000	Enhancers	Thymus	Thymus
5	chr2:173060600-173063800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:173060600-173064400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:173060600-173064400	Enhancers	Fetal Thymus	thymus
8	chr2:173060800-173061800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:173060800-173062000	Enhancers	Colonic Mucosa	Colon
10	chr2:173060800-173062000	Enhancers	Pancreas	Pancrea
11	chr2:173060800-173062200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:173060800-173062200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:173061000-173062000	Flanking Active TSS	Hela-S3	cervix
14	chr2:173061000-173062400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:173061200-173061800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:173061200-173062000	Enhancers	NH-A	brain
17	chr2:173061400-173061800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:173061400-173061800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:173061400-173062000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:173061400-173062000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr2:173061400-173062000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:173061400-173062000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:173061400-173062200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:173061400-173062200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:173061400-173062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:173061600-173061800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:173061600-173062000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr2:173061600-173062000	Enhancers	NHEK	skin
29	chr2:173061600-173064400	Enhancers	HMEC	breast

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