Variant report

Variant	rs6757483
Chromosome Location	chr2:208755126-208755127
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16840140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840163	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716895	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983681	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:55 , 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	chr2:208720400-208757200	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	chr2:208745000-208783600	Weak transcription	Thymus	Thymus
18	chr2:208746600-208757400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:208749800-208757200	Weak transcription	Left Ventricle	heart
20	chr2:208749800-208757400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:208749800-208760000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:208750200-208756000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:208751400-208755800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:208752600-208757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:208752600-208759800	Weak transcription	Fetal Kidney	kidney
26	chr2:208752600-208761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:208752800-208755800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:208752800-208757400	Weak transcription	Fetal Heart	heart
29	chr2:208753000-208755800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:208753000-208756800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:208753000-208756800	Weak transcription	Brain Substantia Nigra	brain
32	chr2:208753000-208757000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:208753000-208757200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:208753000-208757200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:208753000-208757200	Weak transcription	Right Ventricle	heart
36	chr2:208753000-208757200	Weak transcription	HSMMtube	muscle
37	chr2:208753000-208757400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:208753000-208759400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:208753000-208759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:208753000-208800000	Weak transcription	Psoas Muscle	Psoas
41	chr2:208753600-208756000	Enhancers	HepG2	liver
42	chr2:208753800-208757800	Enhancers	Fetal Intestine Large	intestine
43	chr2:208754200-208757000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:208754200-208757000	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:208754200-208760000	Weak transcription	Spleen	Spleen
46	chr2:208754400-208755800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:208754400-208756000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:208754400-208757200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:208754600-208755800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:208754600-208755800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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