Variant report

Variant	rs1983233
Chromosome Location	chr3:141049321-141049322
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141043965..141046482-chr3:141049207..141051849,3	K562	blood:
2	chr3:141027128..141029187-chr3:141047055..141049499,2	MCF-7	breast:
3	chr3:141030424..141032274-chr3:141049079..141051494,2	MCF-7	breast:
4	chr3:141047658..141052071-chr3:141085661..141088836,5	K562	blood:
5	chr3:141047400..141052083-chr3:141058382..141063565,6	K562	blood:
6	chr3:141044721..141047194-chr3:141049083..141050797,2	MCF-7	breast:
7	chr3:141049312..141052024-chr3:141065139..141067701,2	K562	blood:
8	chr3:141040944..141042691-chr3:141048357..141050949,3	K562	blood:
9	chr3:141048273..141051741-chr3:141060770..141063565,3	K562	blood:
10	chr3:141049236..141052063-chr3:141085767..141088852,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13088239	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13094525	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1346408	1.00[YRI][hapmap]
rs2871887	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4683600	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439999	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6778010	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6807533	0.92[ASN][1000 genomes]
rs72986540	0.92[ASN][1000 genomes]
rs72986545	0.91[ASN][1000 genomes]
rs7613516	1.00[YRI][hapmap]
rs9838625	1.00[YRI][hapmap]

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	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
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141045800-141050000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:141045800-141050200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:141045800-141051200	Weak transcription	Lung	lung
4	chr3:141046000-141053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:141046200-141049400	Weak transcription	HUVEC	blood vessel
6	chr3:141046200-141053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:141046200-141055800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:141046400-141049800	Weak transcription	HepG2	liver
9	chr3:141046400-141052400	Weak transcription	Pancreas	Pancrea
10	chr3:141046400-141055800	Genic enhancers	Fetal Intestine Small	intestine
11	chr3:141047000-141055800	Genic enhancers	Fetal Intestine Large	intestine
12	chr3:141047600-141050200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:141047600-141054200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:141047800-141050000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:141047800-141050200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:141047800-141050200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:141047800-141050200	Weak transcription	Right Atrium	heart
18	chr3:141047800-141051200	Weak transcription	Colonic Mucosa	Colon
19	chr3:141047800-141051200	Weak transcription	Left Ventricle	heart
20	chr3:141048000-141051400	Weak transcription	Right Ventricle	heart
21	chr3:141048800-141050200	Enhancers	K562	blood
22	chr3:141049000-141049600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:141049000-141050200	Enhancers	Hela-S3	cervix
24	chr3:141049000-141050200	Enhancers	NHDF-Ad	bronchial
25	chr3:141049000-141052400	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:141049000-141052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:141049000-141052600	Enhancers	Small Intestine	intestine
28	chr3:141049000-141052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:141049000-141053200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:141049000-141056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:141049200-141050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:141049200-141050200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:141049200-141050200	Enhancers	A549	lung
34	chr3:141049200-141052000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:141049200-141052800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:141049200-141055000	Enhancers	GM12878-XiMat	blood
37	chr3:141049200-141057000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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