Variant report

Variant	rs9609603
Chromosome Location	chr22:33017869-33017870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33013961..33016702-chr22:33017273..33018854,2	MCF-7	breast:
2	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
3	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16990857	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs16990872	0.86[JPT][hapmap]
rs2051569	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2157168	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2710348	0.82[ASN][1000 genomes]
rs2858223	0.86[JPT][hapmap]
rs3827336	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs8135117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8136042	0.98[ASN][1000 genomes]
rs8137407	0.82[LWK][hapmap]
rs8139704	0.82[LWK][hapmap]
rs9609608	0.86[JPT][hapmap]
rs9619281	0.82[LWK][hapmap]
rs9619283	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap]
rs9621508	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]
rs9621513	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9621515	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9621516	0.93[ASN][1000 genomes]
rs988670	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9609603	BPIL2	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33012400-33018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
3	chr22:33014400-33019800	Weak transcription	Brain Angular Gyrus	brain
4	chr22:33015000-33019800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:33016000-33020000	Weak transcription	Liver	Liver
6	chr22:33017000-33018000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:33017000-33018000	Enhancers	Hela-S3	cervix
8	chr22:33017000-33018200	Enhancers	Fetal Muscle Trunk	muscle
9	chr22:33017000-33018600	Enhancers	Lung	lung
10	chr22:33017000-33019600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33017000-33020200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:33017000-33020600	Enhancers	Fetal Kidney	kidney
13	chr22:33017000-33021000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:33017000-33021000	Enhancers	Fetal Muscle Leg	muscle
15	chr22:33017000-33021000	Enhancers	Fetal Stomach	stomach
16	chr22:33017000-33022600	Enhancers	Fetal Lung	lung
17	chr22:33017000-33022600	Enhancers	Right Atrium	heart
18	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
19	chr22:33017000-33025800	Enhancers	Spleen	Spleen
20	chr22:33017000-33027200	Enhancers	Placenta	Placenta
21	chr22:33017200-33018000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr22:33017200-33019000	Enhancers	Fetal Thymus	thymus
23	chr22:33017200-33020600	Enhancers	Colon Smooth Muscle	Colon
24	chr22:33017200-33020800	Enhancers	Ovary	ovary
25	chr22:33017400-33018000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:33017400-33018000	Enhancers	Brain Cingulate Gyrus	brain
27	chr22:33017400-33018000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr22:33017400-33018000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr22:33017400-33018200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:33017400-33018400	Enhancers	Stomach Mucosa	stomach
31	chr22:33017400-33019000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr22:33017400-33019600	Enhancers	Fetal Intestine Large	intestine
33	chr22:33017400-33020000	Enhancers	Fetal Heart	heart
34	chr22:33017400-33020600	Enhancers	Colonic Mucosa	Colon
35	chr22:33017400-33020600	Enhancers	Right Ventricle	heart
36	chr22:33017400-33020600	Enhancers	NHLF	lung
37	chr22:33017400-33021000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr22:33017600-33018000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33017600-33018200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:33017600-33018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:33017600-33018200	Enhancers	HSMMtube	muscle
42	chr22:33017600-33018400	Enhancers	Aorta	Aorta
43	chr22:33017600-33018600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:33017600-33018600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr22:33017600-33019000	Enhancers	Duodenum Mucosa	Duodenum
46	chr22:33017600-33019000	Enhancers	K562	blood
47	chr22:33017600-33019200	Flanking Active TSS	HepG2	liver
48	chr22:33017600-33019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:33017600-33020000	Enhancers	Rectal Smooth Muscle	rectum
50	chr22:33017600-33020200	Enhancers	Fetal Intestine Small	intestine

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