Variant report

Variant	rs12678788
Chromosome Location	chr8:121450710-121450711
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:121445774..121451041-chr8:121455542..121459970,7	MCF-7	breast:
2	chr8:121450454..121452292-chr8:121467383..121469748,2	K562	blood:
3	chr8:121444041..121446547-chr8:121449122..121451733,2	MCF-7	breast:
4	chr8:121135344..121136048-chr8:121449948..121450906,2	MCF-7	breast:
5	chr8:121434068..121435646-chr8:121448649..121451515,2	K562	blood:

Variant related genes	Relation type
ENSG00000172172	Chromatin interaction
ENSG00000172167	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.98[ASN][1000 genomes]
rs10109431	1.00[ASN][1000 genomes]
rs10955971	0.91[ASN][1000 genomes]
rs1129080	0.93[ASN][1000 genomes]
rs1129353	0.93[ASN][1000 genomes]
rs11780830	0.98[ASN][1000 genomes]
rs11781786	1.00[ASN][1000 genomes]
rs12545308	0.93[ASN][1000 genomes]
rs12546007	0.97[ASN][1000 genomes]
rs12674727	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12675235	0.94[ASN][1000 genomes]
rs12676755	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678531	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12680641	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13252173	1.00[ASN][1000 genomes]
rs13263962	0.98[ASN][1000 genomes]
rs16893976	0.93[ASN][1000 genomes]
rs2429	0.93[ASN][1000 genomes]
rs4242313	0.94[ASN][1000 genomes]
rs4448321	0.95[ASN][1000 genomes]
rs4452825	0.98[ASN][1000 genomes]
rs4463470	0.93[ASN][1000 genomes]
rs4565499	0.98[ASN][1000 genomes]
rs4573322	0.95[ASN][1000 genomes]
rs4590476	0.93[ASN][1000 genomes]
rs4871067	0.98[ASN][1000 genomes]
rs61203971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424477	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6415474	0.98[ASN][1000 genomes]
rs6469920	0.91[ASN][1000 genomes]
rs6469921	0.91[ASN][1000 genomes]
rs6984090	1.00[ASN][1000 genomes]
rs6985660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002445	1.00[ASN][1000 genomes]
rs7015443	0.93[ASN][1000 genomes]
rs73315165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315174	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73315182	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7812590	1.00[ASN][1000 genomes]
rs7814949	0.94[ASN][1000 genomes]
rs7818026	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7819405	0.93[ASN][1000 genomes]
rs7826906	0.98[ASN][1000 genomes]
rs7832933	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834496	0.91[ASN][1000 genomes]
rs7835198	0.93[ASN][1000 genomes]
rs7835363	0.93[ASN][1000 genomes]
rs9297619	0.98[ASN][1000 genomes]
rs9650081	0.95[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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
4	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:121410600-121456600	Weak transcription	Gastric	stomach
9	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
10	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
12	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
14	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
15	chr8:121417000-121455800	Weak transcription	NHLF	lung
16	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
17	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
18	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
21	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
22	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:121423600-121455800	Weak transcription	Thymus	Thymus
26	chr8:121423600-121456000	Weak transcription	Fetal Intestine Small	intestine
27	chr8:121423600-121456000	Weak transcription	Ovary	ovary
28	chr8:121423600-121456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:121423600-121456400	Weak transcription	Lung	lung
30	chr8:121423800-121456000	Weak transcription	Fetal Stomach	stomach
31	chr8:121424800-121456000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:121425000-121455200	Weak transcription	Brain Angular Gyrus	brain
33	chr8:121425200-121456200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:121426200-121455800	Weak transcription	Fetal Heart	heart
35	chr8:121431400-121452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:121434000-121451400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:121436800-121451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:121437000-121456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:121439200-121455600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:121441200-121455800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:121443200-121455200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:121443200-121456000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:121443400-121454200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:121443600-121451400	Weak transcription	Liver	Liver
45	chr8:121443600-121456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:121444000-121451400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:121444000-121451400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:121444000-121452200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:121444000-121454000	Weak transcription	HUVEC	blood vessel
50	chr8:121444200-121451200	Weak transcription	Brain Germinal Matrix	brain

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