Variant report

Variant	rs16840163
Chromosome Location	chr2:208781024-208781025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
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]
rs6745049	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208732000-208790400	Weak transcription	Fetal Thymus	thymus
2	chr2:208745000-208783600	Weak transcription	Thymus	Thymus
3	chr2:208753000-208800000	Weak transcription	Psoas Muscle	Psoas
4	chr2:208757800-208791200	Weak transcription	Right Ventricle	heart
5	chr2:208758400-208792800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:208759400-208790000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:208762400-208791000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:208762600-208804000	Weak transcription	Gastric	stomach
9	chr2:208762800-208783800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:208763000-208793600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:208763400-208790800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:208765400-208793000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:208765400-208794600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:208765600-208783800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:208765600-208784400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:208765600-208787600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:208765600-208787600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:208765600-208799600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:208766200-208809000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:208766400-208809800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:208766800-208790400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:208766800-208790400	Weak transcription	Pancreas	Pancrea
23	chr2:208767000-208784400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:208767000-208787600	Weak transcription	Esophagus	oesophagus
25	chr2:208767200-208789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:208767200-208790600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:208767200-208809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:208767800-208783600	Weak transcription	Ovary	ovary
29	chr2:208767800-208790800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:208769200-208791000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:208769400-208784000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:208770000-208786400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:208770800-208784200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:208770800-208798400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:208772000-208790200	Weak transcription	Liver	Liver
36	chr2:208772400-208781600	Weak transcription	A549	lung
37	chr2:208772800-208790200	Weak transcription	HSMMtube	muscle
38	chr2:208773000-208795200	Weak transcription	Dnd41	blood
39	chr2:208773400-208809000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:208773600-208789400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:208773600-208793200	Weak transcription	Primary B cells from cord blood	blood
42	chr2:208774000-208790200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:208774000-208790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:208775600-208790400	Weak transcription	Spleen	Spleen
45	chr2:208775800-208795400	Weak transcription	Left Ventricle	heart
46	chr2:208775800-208809800	Weak transcription	Aorta	Aorta
47	chr2:208776000-208785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:208776000-208787600	Weak transcription	Lung	lung
49	chr2:208776000-208789200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:208776400-208789000	Weak transcription	Monocytes-CD14+_RO01746	blood

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