Variant report

Variant	rs7712783
Chromosome Location	chr5:14718101-14718102
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	chr5:14716702-14718600	GM12891	blood:	n/a	n/a
2	POLR2A	chr5:14716654-14719988	K562	blood:	n/a	n/a
3	POLR2A	chr5:14716786-14718284	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:14718087-14718648	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14715019..14717515-chr5:14717731..14719574,2	K562	blood:
2	chr5:14717556..14719233-chr5:14725303..14727840,2	K562	blood:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038397	0.84[AFR][1000 genomes]
rs10057226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10062487	0.81[AFR][1000 genomes]
rs10077606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214386	0.83[AMR][1000 genomes]
rs10475018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10475019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10475021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13355536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13358074	0.83[AMR][1000 genomes]
rs16903657	0.83[AMR][1000 genomes]
rs58610082	0.83[AMR][1000 genomes]
rs61502042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048831	0.86[AFR][1000 genomes]
rs9312870	0.83[AMR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14691000-14722200	Weak transcription	Stomach Mucosa	stomach
3	chr5:14691200-14720400	Weak transcription	Psoas Muscle	Psoas
4	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:14696800-14718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:14700000-14723800	Weak transcription	Small Intestine	intestine
7	chr5:14704400-14719000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:14705600-14718400	Strong transcription	Fetal Brain Female	brain
9	chr5:14707200-14718600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr5:14707400-14720200	Strong transcription	Osteobl	bone
11	chr5:14707400-14720400	Weak transcription	NHDF-Ad	bronchial
12	chr5:14707600-14718400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:14707800-14718400	Strong transcription	Thymus	Thymus
14	chr5:14708200-14718600	Strong transcription	Dnd41	blood
15	chr5:14708600-14720200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:14709200-14718200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:14709400-14718200	Strong transcription	HepG2	liver
18	chr5:14709800-14718200	Strong transcription	Primary T cells from cord blood	blood
19	chr5:14709800-14718400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:14709800-14718600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:14709800-14720600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:14710000-14720600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:14710000-14720800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:14710600-14718200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:14710600-14718600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:14710600-14722600	Weak transcription	K562	blood
27	chr5:14710800-14720800	Weak transcription	NH-A	brain
28	chr5:14711400-14721000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:14711600-14719400	Weak transcription	Primary B cells from cord blood	blood
30	chr5:14711800-14726200	Weak transcription	HSMMtube	muscle
31	chr5:14712400-14726400	Weak transcription	HMEC	breast
32	chr5:14713200-14726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:14713400-14727400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:14713600-14726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:14713800-14727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:14714000-14720400	Strong transcription	Fetal Intestine Small	intestine
37	chr5:14714000-14726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:14714400-14722800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:14714400-14727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:14714600-14720400	Weak transcription	NHLF	lung
42	chr5:14714800-14720200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:14715000-14718200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:14715000-14725200	Weak transcription	Gastric	stomach
45	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
46	chr5:14715200-14718600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:14715200-14719000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:14715200-14719200	Weak transcription	NHEK	skin
49	chr5:14715200-14719800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:14715200-14720400	Weak transcription	Placenta Amnion	Placenta Amnion

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