Variant report

Variant	rs3886152
Chromosome Location	chr3:142749043-142749044
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	chr3:142748377-142750741	K562	blood:	n/a	n/a
2	POLR2A	chr3:142747528-142749180	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142733100..142736059-chr3:142746981..142749897,2	K562	blood:
2	chr3:142744620..142748568-chr3:142749011..142751474,4	K562	blood:

Variant related genes	Relation type
U2SURP	TF binding region
ENSG00000163714	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10804685	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10935477	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11708528	0.81[EUR][1000 genomes]
rs16852921	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1979836	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28463805	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34350727	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35746477	0.81[EUR][1000 genomes]
rs4683719	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4683720	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4683727	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440128	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6789950	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73157683	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750869	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs750870	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8179934	0.81[EUR][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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr3:142721800-142761800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:142727400-142764400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:142728600-142769000	Weak transcription	Pancreas	Pancrea
4	chr3:142729200-142758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:142729200-142765000	Strong transcription	Dnd41	blood
6	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
7	chr3:142729400-142764800	Strong transcription	K562	blood
8	chr3:142729800-142764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:142729800-142765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:142730200-142753400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:142730200-142765000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:142730200-142765000	Strong transcription	Fetal Thymus	thymus
13	chr3:142730400-142754200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:142730600-142753800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:142730800-142758800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:142731000-142749400	Strong transcription	Adipose Nuclei	Adipose
17	chr3:142731000-142754000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:142731200-142753800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:142732600-142754200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:142732800-142759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:142732800-142765000	Strong transcription	HSMM	muscle
22	chr3:142733000-142755000	Weak transcription	Stomach Mucosa	stomach
23	chr3:142733200-142754200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:142733200-142764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:142733400-142750400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:142734000-142758800	Strong transcription	Liver	Liver
27	chr3:142734400-142759000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr3:142734400-142785200	Weak transcription	Esophagus	oesophagus
29	chr3:142734600-142758800	Strong transcription	GM12878-XiMat	blood
30	chr3:142734800-142756400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:142735000-142750800	Strong transcription	A549	lung
32	chr3:142735000-142758800	Strong transcription	Placenta	Placenta
33	chr3:142735200-142750600	Strong transcription	Fetal Lung	lung
34	chr3:142735200-142753400	Strong transcription	NH-A	brain
35	chr3:142735200-142753600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr3:142735200-142754000	Strong transcription	Osteobl	bone
37	chr3:142735600-142753400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:142735600-142759400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr3:142735600-142759400	Strong transcription	NHDF-Ad	bronchial
40	chr3:142735800-142758600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr3:142738800-142751200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:142738800-142753000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:142739000-142754800	Strong transcription	Fetal Intestine Large	intestine
44	chr3:142740000-142769200	Weak transcription	Gastric	stomach
45	chr3:142740200-142763200	Weak transcription	Lung	lung
46	chr3:142742400-142764800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:142742600-142764200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:142743000-142755400	Weak transcription	Brain Germinal Matrix	brain
49	chr3:142743600-142763200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:142743600-142764400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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