Variant report

Variant	rs2044034
Chromosome Location	chr8:96124391-96124392
allele	A/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96072613..96074836-chr8:96123905..96125800,3	MCF-7	breast:
2	chr8:96093323..96095396-chr8:96123393..96125579,2	MCF-7	breast:
3	chr8:96070270..96072434-chr8:96124315..96127287,2	MCF-7	breast:
4	chr8:96107137..96110639-chr8:96122699..96126438,5	MCF-7	breast:
5	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
6	chr8:96079008..96081719-chr8:96123344..96126236,2	K562	blood:
7	chr8:96097556..96101396-chr8:96123203..96126777,5	MCF-7	breast:
8	chr8:96124301..96127333-chr8:96280927..96283907,4	MCF-7	breast:
9	chr8:95653231..95654962-chr8:96122939..96124823,2	MCF-7	breast:
10	chr8:96120310..96131373-chr8:96143717..96153210,36	MCF-7	breast:
11	chr8:96120694..96123843-chr8:96123971..96127404,4	K562	blood:
12	chr8:96114692..96118585-chr8:96123504..96126472,3	K562	blood:
13	chr8:96123068..96125522-chr8:96208069..96210345,2	MCF-7	breast:
14	chr8:96108303..96116345-chr8:96121938..96127499,21	MCF-7	breast:
15	chr8:96123944..96127259-chr8:96279938..96283596,4	MCF-7	breast:
16	chr8:96075699..96088634-chr8:96121923..96127068,15	MCF-7	breast:
17	chr8:96123364..96125766-chr8:96152623..96155722,3	MCF-7	breast:
18	chr8:96122201..96128454-chr8:96143807..96149954,24	MCF-7	breast:
19	chr8:96123802..96126736-chr8:96258433..96260604,2	MCF-7	breast:
20	chr8:96122158..96124465-chr8:96128048..96130370,2	K562	blood:
21	chr8:96097290..96101998-chr8:96121325..96126808,13	MCF-7	breast:
22	chr8:96124203..96126069-chr8:96202239..96204530,2	MCF-7	breast:
23	chr8:96124242..96126154-chr8:96223005..96225325,2	MCF-7	breast:
24	chr8:96123602..96127080-chr8:96146091..96148801,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10102994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10808672	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11781181	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466169	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1561714	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561715	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172469	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1975425	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583365	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2599726	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678841	0.84[CEU][hapmap]
rs297550	0.89[CEU][hapmap]
rs297557	0.84[AMR][1000 genomes]
rs4392868	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735344	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4735345	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4735346	0.81[EUR][1000 genomes]
rs4735347	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4735350	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56617377	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6471516	0.84[CEU][hapmap]
rs6983365	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987741	0.96[EUR][1000 genomes]
rs7000568	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7000734	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs732280	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7822998	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7845016	1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96113800-96127800	Weak transcription	Right Ventricle	heart
2	chr8:96121000-96124600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:96121800-96126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:96121800-96127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:96121800-96128200	Enhancers	Stomach Mucosa	stomach
6	chr8:96122200-96126600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:96122400-96126600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:96122400-96126800	Enhancers	Pancreas	Pancrea
9	chr8:96122400-96128000	Enhancers	HMEC	breast
10	chr8:96122400-96128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:96122400-96128400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:96122600-96124400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:96122600-96126400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:96123000-96124400	Enhancers	Gastric	stomach
15	chr8:96123000-96124800	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:96123000-96125400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr8:96123000-96126600	Enhancers	Small Intestine	intestine
18	chr8:96123200-96124800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:96123200-96125000	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:96123200-96125600	Enhancers	Colon Smooth Muscle	Colon
21	chr8:96123200-96126000	Enhancers	Fetal Thymus	thymus
22	chr8:96123200-96126000	Enhancers	Lung	lung
23	chr8:96123200-96126200	Enhancers	Colonic Mucosa	Colon
24	chr8:96123200-96126600	Enhancers	Esophagus	oesophagus
25	chr8:96123200-96126600	Enhancers	Fetal Intestine Small	intestine
26	chr8:96123200-96128000	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:96123400-96124600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:96123400-96124600	Enhancers	A549	lung
29	chr8:96123400-96126000	Enhancers	Liver	Liver
30	chr8:96123600-96125800	Weak transcription	K562	blood
31	chr8:96123600-96127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:96123800-96124800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:96123800-96124800	Weak transcription	Fetal Lung	lung
34	chr8:96123800-96126400	Weak transcription	NH-A	brain
35	chr8:96123800-96126400	Enhancers	NHEK	skin
36	chr8:96124000-96124800	Weak transcription	Osteobl	bone
37	chr8:96124000-96125000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:96124000-96125000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:96124000-96125000	Weak transcription	Fetal Stomach	stomach
40	chr8:96124000-96125000	Weak transcription	Left Ventricle	heart
41	chr8:96124000-96125000	Weak transcription	NHLF	lung
42	chr8:96124000-96125200	Weak transcription	Placenta	Placenta
43	chr8:96124000-96126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:96124000-96126600	Weak transcription	Fetal Heart	heart
45	chr8:96124000-96127800	Weak transcription	Psoas Muscle	Psoas
46	chr8:96124200-96124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:96124200-96124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:96124200-96124600	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:96124200-96125400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:96124200-96126000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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