Variant report

Variant	rs9621508
Chromosome Location	chr22:33013062-33013063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33012442..33014400-chr22:33241656..33243487,2	K562	blood:
2	chr22:33012442..33015422-chr22:33150856..33153115,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16990849	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs2097339	0.86[ASN][1000 genomes]
rs5749471	0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs5754174	0.81[EUR][1000 genomes]
rs5998557	0.81[JPT][hapmap]
rs762968	0.81[JPT][hapmap]
rs8135117	0.81[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs9609603	0.96[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9619283	0.81[JPT][hapmap]
rs9621513	0.81[JPT][hapmap]
rs9621515	0.81[JPT][hapmap]
rs988670	0.92[CEU][hapmap];0.81[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9621508	DRG1	cis	cerebellum	SCAN
rs9621508	BPIL2	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33010400-33017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:33011400-33015800	Enhancers	Fetal Stomach	stomach
3	chr22:33011600-33015000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:33011600-33015200	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:33011600-33015200	Enhancers	Fetal Muscle Leg	muscle
6	chr22:33011800-33014400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr22:33011800-33015200	Weak transcription	Hela-S3	cervix
8	chr22:33012000-33016000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:33012200-33013400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:33012200-33013400	Weak transcription	Small Intestine	intestine
11	chr22:33012200-33013800	Weak transcription	Psoas Muscle	Psoas
12	chr22:33012200-33014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:33012400-33017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:33012400-33017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:33012400-33018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:33012600-33013200	Enhancers	Colon Smooth Muscle	Colon
17	chr22:33012600-33013600	Weak transcription	Adipose Nuclei	Adipose
18	chr22:33012600-33013600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:33012600-33013600	Weak transcription	Right Atrium	heart
20	chr22:33012600-33014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:33012600-33015800	Enhancers	Fetal Lung	lung
22	chr22:33012600-33017000	Weak transcription	Lung	lung
23	chr22:33012600-33017400	Weak transcription	Fetal Heart	heart
24	chr22:33012800-33014000	Enhancers	Stomach Smooth Muscle	stomach
25	chr22:33012800-33017600	Enhancers	HepG2	liver
26	chr22:33013000-33013200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:33013000-33013200	Enhancers	Fetal Kidney	kidney
28	chr22:33013000-33013800	Weak transcription	Esophagus	oesophagus
29	chr22:33013000-33013800	Weak transcription	Left Ventricle	heart
30	chr22:33013000-33013800	Weak transcription	Right Ventricle	heart
31	chr22:33013000-33013800	Weak transcription	Spleen	Spleen
32	chr22:33013000-33014400	Enhancers	Colonic Mucosa	Colon
33	chr22:33013000-33015200	Enhancers	Placenta	Placenta
34	chr22:33013000-33015200	Enhancers	Ovary	ovary
35	chr22:33013000-33016000	Enhancers	Rectal Mucosa Donor 31	rectum

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