Variant report

Variant	rs6462484
Chromosome Location	chr7:33576276-33576277
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	chr7:33573998..33576604-chr7:33584353..33586304,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10223899	0.86[CHB][hapmap]
rs10282539	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12673772	0.85[ASN][1000 genomes]
rs1376354	0.87[CHB][hapmap]
rs1551098	0.83[CHB][hapmap]
rs1882039	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2392246	0.85[CEU][hapmap]
rs2392247	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2392248	0.85[JPT][hapmap]
rs2598410	0.91[ASN][1000 genomes]
rs28882168	0.89[ASN][1000 genomes]
rs4720121	0.86[JPT][hapmap]
rs4723292	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6945776	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6957890	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6971826	0.85[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs6974597	1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7779722	0.83[CHB][hapmap]
rs969402	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs991185	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933018	chr7:33506325-33707270	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830945	chr7:33526648-33670592	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6462484	PM20D1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33547000-33579400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:33567600-33578800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:33569000-33576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:33569000-33580400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:33569000-33584000	Weak transcription	Right Ventricle	heart
6	chr7:33571000-33582400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:33571800-33579200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:33572000-33578800	Weak transcription	Lung	lung
9	chr7:33572000-33587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:33572200-33577000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:33572200-33577600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:33572400-33578800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:33572600-33578600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:33573800-33577600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:33574200-33577200	Enhancers	Fetal Lung	lung
16	chr7:33574200-33578000	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:33574400-33576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:33574400-33577000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:33574400-33577000	Enhancers	Fetal Heart	heart
20	chr7:33574400-33577200	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:33574400-33578800	Weak transcription	Right Atrium	heart
22	chr7:33574600-33576800	Weak transcription	Left Ventricle	heart
23	chr7:33574600-33577800	Enhancers	Fetal Intestine Small	intestine
24	chr7:33574600-33578600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:33574600-33578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:33574600-33578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:33574600-33578800	Weak transcription	Ovary	ovary
28	chr7:33574600-33578800	Weak transcription	Pancreas	Pancrea
29	chr7:33574600-33583000	Weak transcription	Primary T cells from cord blood	blood
30	chr7:33574600-33584000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:33574600-33584400	Weak transcription	Gastric	stomach
32	chr7:33574600-33594200	Weak transcription	Aorta	Aorta
33	chr7:33574800-33576600	Weak transcription	Small Intestine	intestine
34	chr7:33574800-33577600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:33574800-33577600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:33574800-33577800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:33574800-33578600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:33574800-33578800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:33575000-33576600	Weak transcription	Adipose Nuclei	Adipose
40	chr7:33575000-33578200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:33575000-33578200	Weak transcription	Brain Anterior Caudate	brain
42	chr7:33575000-33578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:33575000-33585800	Weak transcription	Fetal Stomach	stomach
44	chr7:33575200-33577000	Enhancers	Fetal Intestine Large	intestine
45	chr7:33575600-33578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:33576000-33576400	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:33576000-33587600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:33576200-33578400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:33576200-33584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:33576200-33584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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