Variant report

Variant	rs12680146
Chromosome Location	chr8:103804097-103804098
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103613738..103615729-chr8:103803530..103805618,2	MCF-7	breast:
2	chr8:103779903..103782646-chr8:103802643..103805318,2	MCF-7	breast:
3	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
4	chr8:103803555..103806624-chr8:103818327..103821354,4	K562	blood:
5	chr8:103761444..103763819-chr8:103803611..103805535,2	MCF-7	breast:
6	chr8:103797903..103806624-chr8:103818327..103823736,14	K562	blood:
7	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:
8	chr8:103731630..103733859-chr8:103803496..103805362,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11786374	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2436870	0.87[CHD][hapmap]
rs2513905	0.89[CHD][hapmap]
rs3936370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58045596	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822158	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103795200-103804400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:103798400-103804200	Enhancers	Placenta	Placenta
3	chr8:103798600-103804200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:103798800-103808600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:103799000-103804200	Enhancers	Colon Smooth Muscle	Colon
6	chr8:103799000-103804200	Enhancers	HSMM	muscle
7	chr8:103799200-103804200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103799400-103811200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:103799600-103811000	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:103799800-103804200	Enhancers	Fetal Heart	heart
11	chr8:103799800-103804200	Enhancers	Fetal Intestine Large	intestine
12	chr8:103799800-103804200	Enhancers	Fetal Intestine Small	intestine
13	chr8:103799800-103804200	Enhancers	Fetal Stomach	stomach
14	chr8:103799800-103804200	Enhancers	NHLF	lung
15	chr8:103799800-103804600	Enhancers	HMEC	breast
16	chr8:103799800-103805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:103800000-103804200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:103800000-103804200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:103800000-103804200	Enhancers	NHDF-Ad	bronchial
20	chr8:103800000-103804200	Enhancers	NHEK	skin
21	chr8:103800200-103804200	Enhancers	Fetal Thymus	thymus
22	chr8:103800200-103804800	Enhancers	Psoas Muscle	Psoas
23	chr8:103800200-103807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:103800400-103804200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:103800400-103804400	Enhancers	Fetal Muscle Trunk	muscle
26	chr8:103800800-103804600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:103801000-103804200	Enhancers	Primary T cells from cord blood	blood
28	chr8:103801200-103804200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:103801600-103806200	Weak transcription	Brain Germinal Matrix	brain
30	chr8:103801600-103806800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:103801800-103804200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:103801800-103806400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:103802000-103804200	Enhancers	Adipose Nuclei	Adipose
34	chr8:103802000-103806600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:103802000-103806800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:103802000-103809200	Weak transcription	Liver	Liver
37	chr8:103802200-103804200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:103802200-103806400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:103802200-103806400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:103802200-103806400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:103802200-103806600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:103802200-103806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:103802200-103807000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:103802200-103807400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:103802400-103807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:103802600-103804200	Flanking Active TSS	Hela-S3	cervix
47	chr8:103802800-103804200	Enhancers	Right Ventricle	heart
48	chr8:103802800-103806800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:103803000-103804200	Enhancers	Brain Hippocampus Middle	brain
50	chr8:103803000-103808000	Enhancers	Spleen	Spleen

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