Variant report

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100877002..100888885-chr2:100934823..100940762,23	MCF-7	breast:
2	chr2:100175417..100176193-chr2:100876915..100877426,2	K562	blood:
3	chr2:100876921..100878044-chr2:100997529..100998340,3	K562	blood:
4	chr2:100684789..100685779-chr2:100877301..100878058,2	MCF-7	breast:
5	chr2:100873599..100875237-chr2:100876970..100878624,2	MCF-7	breast:
6	chr2:100059471..100059973-chr2:100877276..100877813,2	K562	blood:
7	chr2:100175233..100176206-chr2:100876905..100877408,2	MCF-7	breast:
8	chr2:100876984..100878779-chr2:101034439..101036226,2	K562	blood:
9	chr2:100435040..100435951-chr2:100877088..100877597,2	MCF-7	breast:
10	chr2:100876613..100880348-chr2:101031611..101035939,8	K562	blood:
11	chr2:100175238..100176204-chr2:100876861..100877763,3	MCF-7	breast:
12	chr2:100875966..100878799-chr2:100906876..100908974,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction
ENSG00000170500	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10180423	0.85[CEU][hapmap]
rs11123823	0.85[CEU][hapmap];0.84[MEX][hapmap]
rs11682748	0.85[CEU][hapmap]
rs11693424	0.85[CEU][hapmap]
rs11694723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13019179	0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13407391	0.81[LWK][hapmap];0.85[AFR][1000 genomes]
rs1530028	0.85[CEU][hapmap]
rs2871340	0.92[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs34529583	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4331524	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438499	0.92[CEU][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4455176	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4622752	0.96[CEU][hapmap];0.83[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4851292	0.85[CEU][hapmap]
rs4851293	0.82[CEU][hapmap]
rs6723909	0.92[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs7425449	0.85[CEU][hapmap]
rs7425797	0.85[CEU][hapmap]
rs764828	0.85[CEU][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap]
rs920269	0.84[CEU][hapmap]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2067783	LONRF2	cis	cerebellum	SCAN
rs2067783	ZNF667	trans	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100874600-100879200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:100875200-100881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:100876400-100877600	Enhancers	Fetal Brain Male	brain
7	chr2:100876400-100877600	Enhancers	Fetal Brain Female	brain
8	chr2:100877000-100877600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:100877000-100877600	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:100877000-100877800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:100877000-100879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:100877000-100879400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:100877200-100877400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:100877200-100877400	Enhancers	Brain Substantia Nigra	brain
15	chr2:100877200-100877600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100877200-100877600	Enhancers	Ovary	ovary
17	chr2:100877200-100877800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:100877200-100877800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr2:100877200-100879200	Weak transcription	Fetal Lung	lung

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