Variant report

Variant	rs6810158
Chromosome Location	chr3:141148231-141148232
allele	C/T
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	MYC	chr3:141148147-141148239	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:141148175-141148821	A549	lung:	n/a	n/a
3	POLR2A	chr3:141148105-141148839	U87	brain:	n/a	n/a
4	POLR2A	chr3:141148085-141148283	GM12878	blood:	n/a	n/a
5	MAX	chr3:141148146-141148596	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:141147924-141148327	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:141148215-141148666	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141140674..141142249-chr3:141146703..141148561,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB38	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10513137	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56339671	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59075313	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440008	0.98[ASN][1000 genomes]
rs6762826	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6776991	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9822817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9856584	0.81[EUR][1000 genomes]
rs9858405	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9869102	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
2	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:141133800-141158400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:141133800-141158400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:141134000-141161600	Weak transcription	Fetal Brain Male	brain
6	chr3:141134200-141161600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:141135600-141160200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:141138000-141152000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:141140800-141159200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:141141400-141154800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:141143000-141150800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:141143400-141151600	Enhancers	Fetal Heart	heart
13	chr3:141144800-141148400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:141144800-141149800	Genic enhancers	NHLF	lung
15	chr3:141145000-141149600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:141145000-141154800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:141145000-141160000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:141145200-141148400	Strong transcription	GM12878-XiMat	blood
19	chr3:141145200-141150400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:141145200-141151200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:141145400-141148400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:141145400-141152600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:141145400-141161200	Weak transcription	Fetal Brain Female	brain
24	chr3:141145400-141161800	Weak transcription	Esophagus	oesophagus
25	chr3:141145600-141148800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:141145600-141151200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:141145600-141151800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:141145800-141149600	Genic enhancers	Left Ventricle	heart
29	chr3:141145800-141150000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:141145800-141151400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:141145800-141155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:141145800-141161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:141146000-141149800	Genic enhancers	Fetal Stomach	stomach
34	chr3:141146000-141150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:141146000-141150400	Weak transcription	K562	blood
36	chr3:141146000-141151200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:141146000-141151800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:141146000-141160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:141146000-141160000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:141146000-141160000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:141146200-141148800	Strong transcription	NHEK	skin
42	chr3:141146200-141149800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:141146200-141160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:141146400-141148400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:141146400-141149600	Genic enhancers	Brain Hippocampus Middle	brain
46	chr3:141146400-141149800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:141146400-141150400	Strong transcription	Fetal Intestine Small	intestine
48	chr3:141146400-141150600	Weak transcription	Fetal Kidney	kidney
49	chr3:141146400-141151400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr3:141146400-141153000	Weak transcription	Small Intestine	intestine

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