Variant report

Variant	rs2017301
Chromosome Location	chr22:31514477-31514478
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	chr22:31513885..31515520-chr22:31517409..31519547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185133	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11089489	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703403	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11705137	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167220	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170688	0.84[ASN][1000 genomes]
rs13053329	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807739	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413016	1.00[CHD][hapmap]
rs4820938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820939	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820941	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753446	1.00[CHD][hapmap]
rs62236155	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8135353	1.00[CHB][hapmap]
rs917208	1.00[CHD][hapmap]
rs9621184	0.81[ASW][hapmap];1.00[CHB][hapmap];0.81[MKK][hapmap]
rs9621185	1.00[CHB][hapmap]
rs9621188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2017301	OSBP2	cis	parietal	SCAN
rs2017301	MN1	cis	parietal	SCAN
rs2017301	SFI1	cis	cerebellum	SCAN
rs2017301	SELM	cis	parietal	SCAN
rs2017301	TBC1D10A	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31504200-31515000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31504200-31515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:31504400-31517800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:31504400-31518000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:31504600-31518600	Weak transcription	Fetal Brain Female	brain
6	chr22:31512600-31517800	Weak transcription	Aorta	Aorta
7	chr22:31513800-31515600	Enhancers	Fetal Heart	heart
8	chr22:31514000-31514600	Enhancers	Psoas Muscle	Psoas
9	chr22:31514000-31514800	Enhancers	Left Ventricle	heart
10	chr22:31514000-31515600	Enhancers	Fetal Intestine Large	intestine
11	chr22:31514000-31516600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31514000-31516600	Enhancers	Fetal Muscle Leg	muscle
13	chr22:31514000-31517000	Enhancers	K562	blood
14	chr22:31514000-31517200	Enhancers	Right Ventricle	heart
15	chr22:31514200-31514800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr22:31514200-31515200	Enhancers	HepG2	liver
17	chr22:31514200-31516000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr22:31514200-31516600	Enhancers	Right Atrium	heart
19	chr22:31514200-31518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:31514400-31514800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:31514400-31515000	Enhancers	Fetal Intestine Small	intestine
22	chr22:31514400-31516800	Enhancers	HSMMtube	muscle
23	chr22:31514400-31517600	Weak transcription	Colonic Mucosa	Colon
24	chr22:31514400-31517600	Weak transcription	Duodenum Mucosa	Duodenum

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