Variant report

Variant	rs60671082
Chromosome Location	chr3:119221303-119221304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:119221183-119221331	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119219516..119223386-chr3:119224346..119229091,6	K562	blood:
2	chr3:119219701..119222345-chr3:119233370..119236233,2	K562	blood:
3	chr3:119220229..119222944-chr3:119393933..119395853,2	K562	blood:
4	chr3:119220784..119223017-chr3:119241149..119243066,2	K562	blood:
5	chr3:119185037..119191105-chr3:119214944..119221331,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272662	TF binding region
ENSG00000138495	Chromatin interaction
ENSG00000163389	Chromatin interaction
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1132202	0.80[AMR][1000 genomes]
rs11556604	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12631504	0.80[AMR][1000 genomes]
rs17281612	0.82[AMR][1000 genomes]
rs17281647	0.80[AMR][1000 genomes]
rs17281703	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2282173	0.89[AMR][1000 genomes]
rs2282175	0.89[AMR][1000 genomes]
rs57509340	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58968288	0.82[AMR][1000 genomes]
rs59551807	0.82[AMR][1000 genomes]
rs60375691	0.82[AMR][1000 genomes]
rs60588168	0.87[AMR][1000 genomes]
rs61740281	0.80[AMR][1000 genomes]
rs6782411	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119218000-119224400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:119218000-119225000	Weak transcription	Gastric	stomach
3	chr3:119218000-119231800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
5	chr3:119218600-119221600	Weak transcription	Fetal Intestine Large	intestine
6	chr3:119218600-119222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:119218600-119223000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:119218600-119224600	Weak transcription	Brain Germinal Matrix	brain
9	chr3:119218600-119225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:119218600-119225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:119218600-119225000	Weak transcription	Lung	lung
12	chr3:119218600-119231800	Weak transcription	Spleen	Spleen
13	chr3:119218600-119234400	Weak transcription	Colonic Mucosa	Colon
14	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
15	chr3:119218800-119225000	Weak transcription	Thymus	Thymus
16	chr3:119218800-119233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:119219000-119221400	Weak transcription	Fetal Intestine Small	intestine
18	chr3:119219000-119221400	Weak transcription	Placenta	Placenta
19	chr3:119219000-119221800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:119219000-119222000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:119219000-119222200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:119219000-119222400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:119219000-119222600	Weak transcription	Primary B cells from cord blood	blood
24	chr3:119219000-119222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:119219000-119222800	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:119219000-119224600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:119219000-119235800	Weak transcription	Fetal Kidney	kidney
28	chr3:119219400-119221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:119219400-119221400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:119219400-119236800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:119219600-119221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:119219600-119224000	Weak transcription	NHDF-Ad	bronchial
33	chr3:119219600-119237000	Weak transcription	Small Intestine	intestine
34	chr3:119219800-119221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:119219800-119221400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:119219800-119221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:119219800-119222000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:119219800-119222600	Weak transcription	NH-A	brain
39	chr3:119219800-119222800	Weak transcription	Brain Angular Gyrus	brain
40	chr3:119219800-119224600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:119219800-119228000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr3:119219800-119231000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:119219800-119232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:119219800-119232000	Weak transcription	Brain Substantia Nigra	brain
45	chr3:119219800-119233600	Weak transcription	Ovary	ovary
46	chr3:119219800-119235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:119219800-119239200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:119220000-119221400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:119220000-119221600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:119220000-119222000	Weak transcription	Primary T cells from cord blood	blood

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