Variant report

Variant	rs12334601
Chromosome Location	chr8:130949420-130949421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130946597..130949889-chr8:130950104..130952678,5	MCF-7	breast:
2	chr8:130937201..130939813-chr8:130948093..130951512,3	K562	blood:
3	chr8:130930324..130932060-chr8:130948055..130949647,2	K562	blood:
4	chr8:130943098..130944870-chr8:130947324..130949600,2	MCF-7	breast:
5	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10087750	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10101179	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10283332	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs1871943	1.00[EUR][1000 genomes]
rs28380012	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28417973	1.00[EUR][1000 genomes]
rs28472437	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28520393	1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578248	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28593681	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999729	1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	1.00[EUR][1000 genomes]
rs7825122	1.00[EUR][1000 genomes]
rs7831443	1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	1.00[EUR][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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130904000-130950600	Weak transcription	HSMM	muscle
2	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
4	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
6	chr8:130929200-130950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:130929400-130949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:130929400-130950200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:130930600-130950200	Weak transcription	Psoas Muscle	Psoas
10	chr8:130933800-130950800	Weak transcription	Aorta	Aorta
11	chr8:130934200-130950000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:130934600-130950200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:130936200-130950600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:130936600-130950000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:130936800-130950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:130938200-130949600	Weak transcription	K562	blood
17	chr8:130938400-130950200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:130938800-130950000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:130939200-130950200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:130939600-130950200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:130939600-130950400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:130940800-130950200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:130941600-130951000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:130942200-130950600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:130942600-130951200	Weak transcription	Gastric	stomach
26	chr8:130943000-130950600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:130943000-130950600	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:130943200-130949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:130943200-130950200	Weak transcription	HSMMtube	muscle
30	chr8:130943200-130950400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:130943200-130950600	Weak transcription	Osteobl	bone
32	chr8:130943600-130950000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:130943600-130950600	Weak transcription	Thymus	Thymus
34	chr8:130943800-130950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:130944800-130950800	Weak transcription	Fetal Stomach	stomach
36	chr8:130945000-130950000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:130945200-130950200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:130945200-130950400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:130945200-130951400	Weak transcription	Spleen	Spleen
40	chr8:130945400-130950200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:130945400-130950600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:130945600-130950200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:130945600-130950200	Weak transcription	Adipose Nuclei	Adipose
44	chr8:130945600-130951200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:130945600-130951200	Weak transcription	Left Ventricle	heart
46	chr8:130945600-130951200	Weak transcription	Lung	lung
47	chr8:130945800-130950600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:130946000-130949800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:130946200-130951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:130946400-130950600	Weak transcription	NHDF-Ad	bronchial

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