Variant report

Variant	rs6751078
Chromosome Location	chr2:172893530-172893531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172891732..172894373-chr2:172948842..172951744,2	K562	blood:
2	chr2:172893225..172894892-chr2:172895220..172897617,2	MCF-7	breast:
3	chr2:172878645..172880573-chr2:172892398..172894603,2	K562	blood:
4	chr2:172885365..172888930-chr2:172890140..172893959,4	K562	blood:
5	chr2:172892888..172895304-chr2:172895689..172897604,2	K562	blood:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10167594	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10171214	0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1038564	0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10497377	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs10930503	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11892858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12473549	1.00[CEU][hapmap]
rs12616766	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs12622144	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs12624292	0.81[MKK][hapmap]
rs13394991	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13403822	0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs17581610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17615589	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs17615607	0.95[JPT][hapmap]
rs3796058	0.86[JPT][hapmap]
rs59609380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60491745	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs705870	0.81[JPT][hapmap]
rs788164	0.86[JPT][hapmap]
rs9973494	0.91[ASN][1000 genomes]
rs9973784	0.91[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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
2	chr2:172878600-172898200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:172887200-172894000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:172887200-172894600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:172887200-172896600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:172887400-172902800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:172892600-172893600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:172892600-172893800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:172892600-172893800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:172892600-172894200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:172892800-172893600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:172892800-172893600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:172892800-172893600	Genic enhancers	K562	blood
14	chr2:172892800-172896400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:172893000-172893600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:172893000-172893600	Flanking Active TSS	HepG2	liver
17	chr2:172893000-172893600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:172893200-172893600	Enhancers	Fetal Heart	heart
19	chr2:172893200-172896600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:172893400-172895600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:172893400-172896600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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