Variant report

Variant	rs6745049
Chromosome Location	chr2:208751969-208751970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208747484..208749594-chr2:208749771..208752629,3	K562	blood:
2	chr2:208746670..208748984-chr2:208750450..208752629,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16840140	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723220	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983681	1.00[AMR][1000 genomes]
rs7609299	0.83[YRI][hapmap]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208693600-208772400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:208694600-208763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:208713600-208762200	Weak transcription	Aorta	Aorta
4	chr2:208720400-208757200	Weak transcription	Ovary	ovary
5	chr2:208721600-208761800	Weak transcription	Primary T cells from cord blood	blood
6	chr2:208732000-208790400	Weak transcription	Fetal Thymus	thymus
7	chr2:208733800-208760800	Weak transcription	Primary B cells from cord blood	blood
8	chr2:208735200-208764400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:208738400-208764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:208738800-208756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:208740600-208756600	Weak transcription	Fetal Stomach	stomach
12	chr2:208741000-208756000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:208742200-208759800	Weak transcription	Pancreas	Pancrea
14	chr2:208742200-208763800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:208744200-208765000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:208744400-208757200	Weak transcription	Right Atrium	heart
17	chr2:208744600-208754200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:208744600-208754400	Weak transcription	Lung	lung
19	chr2:208745000-208752800	Weak transcription	Spleen	Spleen
20	chr2:208745000-208783600	Weak transcription	Thymus	Thymus
21	chr2:208746600-208757400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:208747000-208752000	Weak transcription	NHDF-Ad	bronchial
23	chr2:208748000-208752200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:208748400-208752600	Weak transcription	Right Ventricle	heart
25	chr2:208749400-208754600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:208749800-208757200	Weak transcription	Left Ventricle	heart
27	chr2:208749800-208757400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:208749800-208760000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:208750000-208752200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:208750200-208756000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:208750400-208753600	Weak transcription	HepG2	liver
32	chr2:208750400-208753800	Weak transcription	Fetal Intestine Large	intestine
33	chr2:208750400-208753800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:208751000-208752800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:208751200-208752800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:208751200-208753000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:208751400-208755800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:208751600-208752000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:208751800-208752800	Enhancers	Fetal Heart	heart
40	chr2:208751800-208752800	Enhancers	Pancreatic Islets	Pancreatic Islet

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