Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:48190967..48193401-chr4:48269923..48272696,2	K562	blood:
2	chr4:48191298..48193401-chr4:48269923..48271820,2	K562	blood:
3	chr4:48191196..48193426-chr4:48194546..48197180,3	K562	blood:
4	chr4:48190207..48192286-chr4:48193405..48195580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11931912	0.80[JPT][hapmap]
rs12499674	0.91[ASN][1000 genomes]
rs13136179	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146265	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146503	0.80[EUR][1000 genomes]
rs1507919	0.86[YRI][hapmap]
rs17655249	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2243840	0.93[YRI][hapmap]
rs2352592	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661547	0.86[YRI][hapmap]
rs2704399	0.94[YRI][hapmap]
rs2704436	0.93[YRI][hapmap]
rs28578119	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4312730	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4352448	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694887	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695355	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55869455	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6447616	0.88[YRI][hapmap]
rs6447617	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6818552	0.91[ASN][1000 genomes]
rs6845258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9715214	0.84[EUR][1000 genomes];0.85[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
3	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:48188600-48196000	Weak transcription	Lung	lung
7	chr4:48190200-48195200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:48190200-48195800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:48190400-48191800	Weak transcription	K562	blood
10	chr4:48190400-48194800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:48190400-48197400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
16	chr4:48191200-48191800	Genic enhancers	GM12878-XiMat	blood
17	chr4:48191400-48197400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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