Variant report

Variant	rs55694485
Chromosome Location	chr8:8183123-8183124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8176191..8177964-chr8:8181508..8183686,2	MCF-7	breast:
2	chr8:8182749..8184477-chr8:8188619..8190781,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088802	1.00[EUR][1000 genomes]
rs10089015	1.00[EUR][1000 genomes]
rs10090619	1.00[EUR][1000 genomes]
rs10095547	1.00[EUR][1000 genomes]
rs10098387	1.00[EUR][1000 genomes]
rs10099294	1.00[EUR][1000 genomes]
rs10099932	1.00[EUR][1000 genomes]
rs10503375	1.00[EUR][1000 genomes]
rs12114894	1.00[EUR][1000 genomes]
rs17149638	1.00[EUR][1000 genomes]
rs17150422	1.00[EUR][1000 genomes]
rs17154782	1.00[EUR][1000 genomes]
rs17154807	1.00[EUR][1000 genomes]
rs17154898	1.00[EUR][1000 genomes]
rs17154921	1.00[EUR][1000 genomes]
rs17154940	1.00[EUR][1000 genomes]
rs17154992	1.00[EUR][1000 genomes]
rs17155014	1.00[EUR][1000 genomes]
rs17155036	1.00[EUR][1000 genomes]
rs17155080	1.00[EUR][1000 genomes]
rs17155182	1.00[EUR][1000 genomes]
rs17155246	1.00[EUR][1000 genomes]
rs17155252	1.00[EUR][1000 genomes]
rs28488053	1.00[EUR][1000 genomes]
rs28566645	1.00[EUR][1000 genomes]
rs28633098	1.00[EUR][1000 genomes]
rs28680602	1.00[EUR][1000 genomes]
rs6992577	1.00[EUR][1000 genomes]
rs7815685	1.00[EUR][1000 genomes]
rs7818366	1.00[EUR][1000 genomes]
rs7818387	1.00[EUR][1000 genomes]
rs7828643	1.00[EUR][1000 genomes]
rs9657523	1.00[EUR][1000 genomes]
rs9657554	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915915	chr8:7239471-8222024	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
2	nsv533299	chr8:7268825-8222024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	75 gene(s)	inside rSNPs	diseases
3	nsv869874	chr8:7753583-8229906	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv817196	chr8:8079861-8255544	Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1032259	chr8:8108863-8247113	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1020290	chr8:8108863-8260280	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv539440	chr8:8108863-8260280	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv610156	chr8:8163243-8207339	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8168800-8187400	Weak transcription	Small Intestine	intestine
2	chr8:8170600-8184000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:8173800-8187000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:8173800-8188200	Strong transcription	Primary T cells from cord blood	blood
5	chr8:8174000-8187800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr8:8174200-8187000	Weak transcription	Hela-S3	cervix
7	chr8:8174200-8187200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr8:8174600-8187200	Strong transcription	Fetal Intestine Small	intestine
9	chr8:8174600-8188200	Weak transcription	Fetal Thymus	thymus
10	chr8:8174800-8186800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:8175200-8189400	Weak transcription	Liver	Liver
12	chr8:8175800-8187200	Strong transcription	HUVEC	blood vessel
13	chr8:8176200-8188000	Weak transcription	Dnd41	blood
14	chr8:8176800-8184000	Weak transcription	Lung	lung
15	chr8:8176800-8184000	Weak transcription	Spleen	Spleen
16	chr8:8176800-8185000	Weak transcription	Gastric	stomach
17	chr8:8176800-8185200	Weak transcription	Thymus	Thymus
18	chr8:8176800-8187000	Strong transcription	Fetal Intestine Large	intestine
19	chr8:8176800-8187200	Weak transcription	Pancreas	Pancrea
20	chr8:8177000-8184800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:8177000-8185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:8178800-8186200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:8179000-8183600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:8179000-8187200	Strong transcription	HMEC	breast
25	chr8:8179000-8189400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:8179200-8183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:8179400-8187200	Strong transcription	Osteobl	bone
28	chr8:8179600-8185000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:8179600-8194600	Strong transcription	HepG2	liver
30	chr8:8180800-8184000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:8181200-8183200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:8181200-8183600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:8181200-8187200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:8181200-8188000	Strong transcription	Placenta	Placenta
35	chr8:8181400-8183200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:8181400-8183200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:8181400-8184400	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr8:8181600-8183200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:8181600-8183200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:8181600-8186400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:8181800-8183200	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr8:8181800-8183800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:8181800-8185000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:8182000-8183200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:8182000-8183200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:8182000-8183200	Flanking Active TSS	Fetal Brain Female	brain
47	chr8:8182000-8184400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:8182000-8187200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:8182200-8185200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:8182200-8185600	Strong transcription	Adipose Nuclei	Adipose

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