Variant report

Variant	rs12676199
Chromosome Location	chr8:107776904-107776905
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107775742..107777895-chr8:107793732..107796183,2	MCF-7	breast:
2	chr22:20745968..20748924-chr8:107775858..107777888,2	MCF-7	breast:
3	chr8:107776853..107777682-chr8:107843674..107844419,2	MCF-7	breast:
4	chr8:107776572..107779204-chr8:107860586..107863485,2	K562	blood:

Variant related genes	Relation type
ENSG00000185252	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11988518	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11990338	0.86[ASN][1000 genomes]
rs11996457	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056528	0.90[ASN][1000 genomes]
rs12675956	0.90[ASN][1000 genomes]
rs12681427	0.95[ASN][1000 genomes]
rs12681916	0.94[ASN][1000 genomes]
rs1542644	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16875079	0.83[ASN][1000 genomes]
rs1954790	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2126579	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2881423	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28924694	0.84[AFR][1000 genomes]
rs3101532	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3101533	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3101534	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3101538	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3101539	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102431	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3102432	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3102434	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3132806	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3132807	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3134127	0.82[ASN][1000 genomes]
rs3134129	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6469077	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983111	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983210	0.93[ASN][1000 genomes]
rs7000202	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7817274	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
2	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
3	chr8:107753600-107777400	Weak transcription	HUVEC	blood vessel
4	chr8:107755800-107777800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:107756400-107777800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:107756600-107777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:107756600-107777400	Weak transcription	Psoas Muscle	Psoas
8	chr8:107756600-107777600	Weak transcription	Fetal Brain Female	brain
9	chr8:107761400-107777600	Weak transcription	Fetal Stomach	stomach
10	chr8:107765400-107777200	Weak transcription	HSMM	muscle
11	chr8:107772600-107777400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:107775400-107777400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:107775400-107777400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:107775400-107777400	Weak transcription	Brain Angular Gyrus	brain
15	chr8:107775400-107777400	Weak transcription	Left Ventricle	heart
16	chr8:107775600-107777400	Weak transcription	Stomach Mucosa	stomach
17	chr8:107775800-107777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:107775800-107777400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:107775800-107777400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:107775800-107777400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:107775800-107777400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:107775800-107777400	Weak transcription	Fetal Intestine Large	intestine
23	chr8:107775800-107777400	Weak transcription	NHLF	lung
24	chr8:107775800-107777400	Weak transcription	Osteobl	bone
25	chr8:107776000-107777000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:107776000-107777200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:107776000-107777200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:107776000-107777200	Weak transcription	Liver	Liver
29	chr8:107776000-107777200	Weak transcription	Fetal Heart	heart
30	chr8:107776000-107777200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:107776000-107777200	Weak transcription	Right Atrium	heart
32	chr8:107776000-107777400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:107776000-107777400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:107776000-107777400	Weak transcription	Adipose Nuclei	Adipose
35	chr8:107776000-107777400	Weak transcription	Brain Anterior Caudate	brain
36	chr8:107776000-107777400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:107776000-107777400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:107776000-107777400	Weak transcription	Brain Substantia Nigra	brain
39	chr8:107776000-107777400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:107776000-107777400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:107776000-107777400	Weak transcription	Fetal Kidney	kidney
42	chr8:107776000-107777400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:107776000-107777400	Weak transcription	Ovary	ovary
44	chr8:107776000-107777400	Weak transcription	Right Ventricle	heart
45	chr8:107776000-107777400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:107776000-107777600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:107776000-107777800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:107776000-107785000	Weak transcription	HSMMtube	muscle
49	chr8:107776200-107777200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:107776200-107777200	Weak transcription	Fetal Lung	lung

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