Variant report

Variant	rs16840112
Chromosome Location	chr2:208757364-208757365
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	chr2:208756898..208759046-chr2:208771958..208774040,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55687340	1.00[AMR][1000 genomes]
rs57434067	1.00[AMR][1000 genomes]
rs58524730	1.00[AMR][1000 genomes]
rs59975915	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs73983604	1.00[AMR][1000 genomes]
rs73983605	1.00[AMR][1000 genomes]
rs73983606	1.00[AMR][1000 genomes]
rs73983639	1.00[AMR][1000 genomes]
rs73983657	1.00[AMR][1000 genomes]
rs73983660	1.00[AMR][1000 genomes]
rs73983679	1.00[AMR][1000 genomes]
rs73983682	1.00[AMR][1000 genomes]
rs73986306	1.00[AMR][1000 genomes]
rs73986311	1.00[AMR][1000 genomes]
rs73986332	1.00[AMR][1000 genomes]
rs73986348	1.00[AMR][1000 genomes]
rs73986349	1.00[AMR][1000 genomes]
rs73986350	1.00[AMR][1000 genomes]
rs73986351	1.00[AMR][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	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:75 , 50 per page) page: 1 2

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	chr2:208721600-208761800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:208732000-208790400	Weak transcription	Fetal Thymus	thymus
6	chr2:208733800-208760800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:208735200-208764400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:208738400-208764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:208742200-208759800	Weak transcription	Pancreas	Pancrea
10	chr2:208742200-208763800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:208744200-208765000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:208745000-208783600	Weak transcription	Thymus	Thymus
13	chr2:208746600-208757400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:208749800-208757400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:208749800-208760000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:208752600-208757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:208752600-208759800	Weak transcription	Fetal Kidney	kidney
18	chr2:208752600-208761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:208752800-208757400	Weak transcription	Fetal Heart	heart
20	chr2:208753000-208757400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:208753000-208759400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:208753000-208759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:208753000-208800000	Weak transcription	Psoas Muscle	Psoas
24	chr2:208753800-208757800	Enhancers	Fetal Intestine Large	intestine
25	chr2:208754200-208760000	Weak transcription	Spleen	Spleen
26	chr2:208754600-208760000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:208754600-208765000	Weak transcription	Lung	lung
28	chr2:208755400-208758200	Enhancers	Fetal Intestine Small	intestine
29	chr2:208755600-208758600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:208755800-208757400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:208755800-208757800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:208755800-208758000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:208755800-208758600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:208755800-208763800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:208756000-208757800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:208756000-208757800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:208756000-208758200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:208756400-208758200	Enhancers	HepG2	liver
39	chr2:208756600-208757600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:208756600-208758200	Enhancers	Fetal Stomach	stomach
41	chr2:208756600-208758400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:208756800-208758600	Enhancers	Brain Substantia Nigra	brain
43	chr2:208756800-208763400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:208757000-208758200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:208757000-208758200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:208757000-208758200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:208757000-208758400	Enhancers	Brain Anterior Caudate	brain
48	chr2:208757000-208758400	Enhancers	Colon Smooth Muscle	Colon
49	chr2:208757000-208758600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:208757000-208761800	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links