Variant report

Variant	rs4323439
Chromosome Location	chr8:96105761-96105762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96104110..96106286-chr8:96127636..96129907,2	K562	blood:
2	chr8:96100149..96103800-chr8:96104108..96108014,6	K562	blood:
3	chr8:96104764..96108289-chr8:96108650..96112287,3	K562	blood:
4	chr8:96105175..96107392-chr8:96125066..96126670,2	MCF-7	breast:
5	chr8:96105550..96111124-chr8:96111232..96115383,7	K562	blood:
6	chr8:96104764..96107063-chr8:96108642..96110810,3	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000254248	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1000285	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1000286	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs10091897	0.82[ASN][1000 genomes]
rs10093559	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs10096848	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs11774506	0.82[ASN][1000 genomes]
rs11776488	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs11777952	0.83[ASN][1000 genomes]
rs11778009	0.82[ASN][1000 genomes]
rs11781134	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11781447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11782021	0.82[ASN][1000 genomes]
rs11782155	0.82[CHB][hapmap]
rs11784746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12543421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13248868	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13251032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13251759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13273307	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13274368	0.95[ASN][1000 genomes]
rs13276227	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13280672	0.80[EUR][1000 genomes]
rs1451711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1451712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16917325	0.83[ASN][1000 genomes]
rs1946941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1946943	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1946944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2341400	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2880033	0.83[ASN][1000 genomes]
rs34681252	0.82[ASN][1000 genomes]
rs34901613	0.98[ASN][1000 genomes]
rs4236831	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4321970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471513	0.87[YRI][hapmap]
rs6987762	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6992774	0.82[ASN][1000 genomes]
rs7008347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73262476	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:96100400-96113600	Weak transcription	Lung	lung
4	chr8:96100600-96106800	Weak transcription	Spleen	Spleen
5	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:96100800-96107600	Weak transcription	Hela-S3	cervix
7	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:96102000-96106600	Enhancers	Primary B cells from cord blood	blood
9	chr8:96102000-96107400	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:96102400-96107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:96102800-96112000	Weak transcription	A549	lung
13	chr8:96103000-96107400	Weak transcription	NH-A	brain
14	chr8:96103000-96108400	Weak transcription	HMEC	breast
15	chr8:96103000-96112000	Weak transcription	Osteobl	bone
16	chr8:96103200-96107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:96103200-96108400	Weak transcription	NHEK	skin
18	chr8:96103200-96111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:96103600-96110000	Weak transcription	Fetal Thymus	thymus
20	chr8:96104200-96105800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:96104200-96106000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:96104400-96107600	Weak transcription	HepG2	liver
23	chr8:96104600-96109400	Enhancers	Placenta	Placenta
24	chr8:96105200-96106000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:96105600-96106000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:96105600-96106000	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:96105600-96106000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:96105600-96106000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:96105600-96106000	Enhancers	Fetal Intestine Large	intestine
30	chr8:96105600-96106200	Flanking Active TSS	GM12878-XiMat	blood
31	chr8:96105600-96106200	Flanking Active TSS	K562	blood
32	chr8:96105600-96107200	Enhancers	Monocytes-CD14+_RO01746	blood

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