Variant report

Variant	rs7983319
Chromosome Location	chr13:30849389-30849390
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	chr13:30845289..30847410-chr13:30848060..30849605,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10488670	0.87[AFR][1000 genomes]
rs17074504	0.87[AFR][1000 genomes]
rs7322430	0.84[AFR][1000 genomes]
rs7336250	0.87[AFR][1000 genomes]
rs73443604	1.00[AMR][1000 genomes]
rs73458420	1.00[AMR][1000 genomes]
rs73460544	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	nsv899962	chr13:30831422-30863235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30805600-30853200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:30826800-30860400	Weak transcription	Esophagus	oesophagus
3	chr13:30828600-30857600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr13:30829800-30850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:30832200-30849400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:30832200-30855400	Weak transcription	Fetal Brain Male	brain
7	chr13:30832200-30861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:30832200-30863400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:30832200-30863800	Weak transcription	HSMMtube	muscle
10	chr13:30832400-30859400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:30834600-30853000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr13:30837200-30853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:30837800-30860000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30840400-30859800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:30841600-30853200	Weak transcription	Adipose Nuclei	Adipose
16	chr13:30842000-30853200	Weak transcription	Fetal Kidney	kidney
17	chr13:30842400-30850200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:30842400-30853600	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:30842400-30858200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:30842400-30863800	Weak transcription	Ovary	ovary
21	chr13:30842800-30853400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr13:30843000-30849400	Weak transcription	GM12878-XiMat	blood
23	chr13:30843000-30851200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:30843000-30853400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:30843000-30857600	Weak transcription	A549	lung
26	chr13:30843000-30880200	Weak transcription	Fetal Stomach	stomach
27	chr13:30843600-30855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr13:30844000-30854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr13:30844400-30850400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:30844800-30853200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:30845200-30866200	Weak transcription	Small Intestine	intestine
32	chr13:30845600-30853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:30845600-30863400	Weak transcription	K562	blood
34	chr13:30845800-30853000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:30846000-30849400	Weak transcription	HMEC	breast
36	chr13:30847000-30859800	Weak transcription	Brain Germinal Matrix	brain
37	chr13:30847200-30859400	Weak transcription	Brain Anterior Caudate	brain
38	chr13:30847200-30860400	Weak transcription	Brain Substantia Nigra	brain
39	chr13:30847200-30876000	Weak transcription	Lung	lung
40	chr13:30847400-30860800	Weak transcription	Spleen	Spleen
41	chr13:30847400-30867800	Weak transcription	Right Ventricle	heart
42	chr13:30847400-30870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:30847600-30851200	Weak transcription	HUVEC	blood vessel
44	chr13:30847600-30857200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr13:30848000-30849600	Strong transcription	NHDF-Ad	bronchial
46	chr13:30848000-30849600	Strong transcription	NHLF	lung
47	chr13:30848000-30862600	Weak transcription	HepG2	liver
48	chr13:30848200-30853200	Weak transcription	Left Ventricle	heart
49	chr13:30848200-30857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:30848600-30850200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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