Variant report

Variant	rs13416848
Chromosome Location	chr2:191058806-191058807
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191058197..191060868-chr2:191061375..191063080,2	K562	blood:
2	chr2:191058213..191060210-chr2:191073885..191076482,2	K562	blood:
3	chr2:191052209..191056005-chr2:191056223..191060273,4	K562	blood:
4	chr2:191058046..191059738-chr2:191062571..191064131,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10173651	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10183567	0.89[AFR][1000 genomes]
rs10190456	1.00[YRI][hapmap]
rs10195303	0.89[AFR][1000 genomes]
rs10203186	1.00[YRI][hapmap]
rs13384409	0.89[AFR][1000 genomes]
rs13390473	0.89[AFR][1000 genomes]
rs13398619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401506	0.89[AFR][1000 genomes]
rs13406709	0.89[AFR][1000 genomes]
rs13410853	0.89[AFR][1000 genomes]
rs16832465	0.89[AFR][1000 genomes]
rs16832648	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs28407355	0.89[AFR][1000 genomes]
rs28571630	0.89[AFR][1000 genomes]
rs28625711	0.89[AFR][1000 genomes]
rs59509049	1.00[AMR][1000 genomes]
rs61700547	1.00[AMR][1000 genomes]
rs73978911	1.00[AMR][1000 genomes]
rs9653313	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191074000	Weak transcription	HMEC	breast
2	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
3	chr2:191046200-191061800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:191046200-191064200	Weak transcription	HSMM	muscle
5	chr2:191046400-191059200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:191046400-191059600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:191046400-191060000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:191046400-191061600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:191046400-191061800	Weak transcription	Fetal Lung	lung
10	chr2:191046400-191061800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:191046400-191062000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:191046400-191062000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:191046400-191063600	Weak transcription	HepG2	liver
14	chr2:191046400-191064400	Weak transcription	Pancreas	Pancrea
15	chr2:191046400-191064400	Weak transcription	Psoas Muscle	Psoas
16	chr2:191046400-191070400	Weak transcription	Fetal Stomach	stomach
17	chr2:191046600-191064400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
19	chr2:191047000-191061800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:191047200-191062000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:191047400-191061800	Weak transcription	Primary B cells from cord blood	blood
23	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
24	chr2:191048200-191061800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:191048200-191073800	Weak transcription	Aorta	Aorta
26	chr2:191048600-191062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:191049200-191064400	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:191049400-191062000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:191050200-191060600	Weak transcription	Fetal Heart	heart
30	chr2:191050400-191061600	Weak transcription	Fetal Intestine Large	intestine
31	chr2:191050400-191061800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:191050600-191061600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:191051600-191061600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:191051600-191061800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:191052600-191062200	Weak transcription	Fetal Intestine Small	intestine
37	chr2:191052600-191063000	Weak transcription	Left Ventricle	heart
38	chr2:191053000-191078200	Weak transcription	Right Ventricle	heart
39	chr2:191054200-191060600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:191055800-191060200	Weak transcription	Osteobl	bone
41	chr2:191056600-191070200	Weak transcription	NHDF-Ad	bronchial
42	chr2:191056800-191061600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:191056800-191064400	Weak transcription	Esophagus	oesophagus
44	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:191056800-191131800	Weak transcription	NHEK	skin
46	chr2:191057000-191078400	Weak transcription	Thymus	Thymus
47	chr2:191057200-191076200	Weak transcription	Fetal Kidney	kidney
48	chr2:191057400-191061800	Weak transcription	Liver	Liver
49	chr2:191057800-191060000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain

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