Variant report

Variant	rs72970308
Chromosome Location	chr3:119156427-119156428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:119156401-119156647	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119155062..119157702-chr3:119181053..119182622,2	MCF-7	breast:
2	chr3:119153754..119155960-chr3:119156052..119158543,2	MCF-7	breast:

Variant related genes	Relation type
TMEM39A	TF binding region
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs3968056	1.00[AMR][1000 genomes]
rs56659708	1.00[AMR][1000 genomes]
rs61324063	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61747387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6782742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956724	1.00[AMR][1000 genomes]
rs72966441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970322	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648461	0.87[AFR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119147000-119179000	Strong transcription	Osteobl	bone
2	chr3:119147200-119180400	Weak transcription	Stomach Mucosa	stomach
3	chr3:119147400-119157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:119147400-119179200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:119147600-119157200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:119147600-119157400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:119147600-119157400	Strong transcription	Fetal Thymus	thymus
8	chr3:119147800-119157000	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr3:119147800-119157000	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr3:119147800-119157200	Strong transcription	Rectal Smooth Muscle	rectum
11	chr3:119147800-119157400	Strong transcription	Placenta	Placenta
12	chr3:119147800-119157400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:119147800-119157600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr3:119147800-119157600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr3:119147800-119159400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:119148000-119157000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:119148000-119157000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:119148000-119157000	Strong transcription	Brain Cingulate Gyrus	brain
19	chr3:119148000-119162200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:119148200-119157000	Strong transcription	NHLF	lung
21	chr3:119148200-119157200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:119148200-119157200	Strong transcription	Brain Hippocampus Middle	brain
23	chr3:119148400-119156800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:119148400-119157000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr3:119148400-119157200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:119148400-119157200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr3:119148400-119157400	Strong transcription	NHDF-Ad	bronchial
28	chr3:119148400-119157600	Strong transcription	HepG2	liver
29	chr3:119148600-119157200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:119148600-119157200	Strong transcription	Brain Substantia Nigra	brain
31	chr3:119148800-119156800	Weak transcription	Right Atrium	heart
32	chr3:119148800-119157000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:119148800-119157200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:119148800-119157800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:119148800-119157800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr3:119148800-119175400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:119148800-119180400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:119149000-119156800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:119149000-119157000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:119149000-119157200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:119149200-119157200	Strong transcription	Primary B cells from cord blood	blood
42	chr3:119149200-119157200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:119149200-119157200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:119149200-119159200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:119149200-119161600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:119149400-119156800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:119149400-119157000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:119149400-119157000	Strong transcription	Brain Germinal Matrix	brain
49	chr3:119149400-119157200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:119149400-119157400	Strong transcription	Duodenum Mucosa	Duodenum

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