Variant report

Variant	rs8002503
Chromosome Location	chr13:30810300-30810301
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	chr13:30809077..30812226-chr13:30812338..30816597,4	K562	blood:
2	chr13:30809077..30811764-chr13:30812338..30815075,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11841870	0.85[YRI][hapmap]
rs17074481	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6490447	1.00[AMR][1000 genomes]
rs6490448	1.00[AMR][1000 genomes]
rs7327225	0.96[AFR][1000 genomes]
rs7330252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7331369	1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes]
rs7331654	1.00[AMR][1000 genomes]
rs7331974	1.00[AMR][1000 genomes]
rs7335936	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7981526	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8002236	1.00[AMR][1000 genomes]
rs9550539	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs9741248	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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr13:30791000-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:30796800-30831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:30797000-30823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:30797800-30814800	Weak transcription	Placenta	Placenta
7	chr13:30798800-30810800	Strong transcription	Fetal Thymus	thymus
8	chr13:30799200-30811800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:30799200-30831400	Weak transcription	Aorta	Aorta
10	chr13:30799400-30812400	Weak transcription	Fetal Kidney	kidney
11	chr13:30799400-30814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:30799400-30814400	Weak transcription	Brain Angular Gyrus	brain
13	chr13:30799400-30814400	Weak transcription	HepG2	liver
14	chr13:30799400-30823200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:30799400-30831600	Weak transcription	Right Ventricle	heart
16	chr13:30799600-30810400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr13:30799600-30817400	Weak transcription	Brain Anterior Caudate	brain
18	chr13:30799600-30823400	Weak transcription	A549	lung
19	chr13:30799600-30823400	Weak transcription	NHEK	skin
20	chr13:30799600-30845200	Weak transcription	HMEC	breast
21	chr13:30799800-30810800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr13:30801000-30821200	Weak transcription	Fetal Brain Male	brain
23	chr13:30801200-30811600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:30801200-30812000	Weak transcription	Pancreas	Pancrea
25	chr13:30801200-30815400	Weak transcription	Osteobl	bone
26	chr13:30801800-30815800	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:30803000-30831400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:30803400-30827800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:30803600-30810600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:30803600-30815000	Weak transcription	GM12878-XiMat	blood
31	chr13:30803600-30815400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:30803600-30830400	Weak transcription	Fetal Heart	heart
33	chr13:30803600-30831400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:30803800-30815800	Weak transcription	Fetal Intestine Small	intestine
35	chr13:30803800-30818000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:30803800-30823200	Weak transcription	Fetal Intestine Large	intestine
37	chr13:30804000-30812000	Weak transcription	K562	blood
38	chr13:30804400-30831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:30804800-30823400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:30805600-30810800	Weak transcription	Adipose Nuclei	Adipose
41	chr13:30805600-30811800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:30805600-30812200	Weak transcription	HUVEC	blood vessel
43	chr13:30805600-30814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:30805600-30815000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:30805600-30815600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:30805600-30818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:30805600-30822600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr13:30805600-30823200	Weak transcription	Liver	Liver
49	chr13:30805600-30823400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:30805600-30823400	Weak transcription	Fetal Brain Female	brain

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