Variant report

Variant	rs2678826
Chromosome Location	chr8:96083961-96083962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
2	chr8:96082263..96084647-chr8:96148817..96151156,2	MCF-7	breast:
3	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
4	chr8:95960698..95962317-chr8:96082696..96084642,2	MCF-7	breast:
5	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
6	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
7	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
8	chr8:95958215..95960553-chr8:96082467..96084119,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-2	chr8:96083960-96084246	ENSG00000254248.1

No data

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1878736	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1996500	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2044899	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2599701	0.82[EUR][1000 genomes]
rs2599702	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2599703	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2599704	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2599705	0.89[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2678825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678839	0.83[AMR][1000 genomes]
rs2678840	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2923814	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2945566	0.81[AMR][1000 genomes]
rs34824997	0.83[AMR][1000 genomes]
rs4641029	0.85[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[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	esv1808302	chr8:96079879-96085479	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:96071200-96084600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:96071600-96084200	Weak transcription	GM12878-XiMat	blood
5	chr8:96071800-96084800	Weak transcription	Thymus	Thymus
6	chr8:96072400-96085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:96075200-96084800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:96077600-96084400	Weak transcription	Gastric	stomach
9	chr8:96080000-96084800	Weak transcription	Spleen	Spleen
10	chr8:96080000-96085200	Weak transcription	Lung	lung
11	chr8:96080200-96084400	Weak transcription	Fetal Thymus	thymus
12	chr8:96080200-96085000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:96080200-96085000	Weak transcription	Right Ventricle	heart
14	chr8:96080200-96085200	Weak transcription	Pancreas	Pancrea
15	chr8:96080200-96085200	Weak transcription	Right Atrium	heart
16	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:96081200-96084600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:96081200-96084800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:96081400-96084800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:96081400-96084800	Weak transcription	Stomach Mucosa	stomach
21	chr8:96081400-96085200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:96081400-96086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:96081600-96084400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:96081600-96085000	Weak transcription	Colonic Mucosa	Colon
25	chr8:96081600-96085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:96081600-96087800	Weak transcription	A549	lung
27	chr8:96081800-96084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:96082400-96084200	Weak transcription	NHEK	skin
29	chr8:96082400-96085400	Weak transcription	HMEC	breast
30	chr8:96083000-96084200	Enhancers	HepG2	liver
31	chr8:96083000-96085400	Enhancers	Placenta	Placenta
32	chr8:96083200-96084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:96083200-96084800	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:96083400-96084200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:96083600-96084000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:96083600-96084600	Enhancers	Liver	Liver
37	chr8:96083800-96084000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr8:96083800-96084000	Enhancers	K562	blood

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