Variant report

Variant	rs152972
Chromosome Location	chr5:14663573-14663574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14663156-14663627	GM12878	blood:	n/a	n/a
2	SETDB1	chr5:14663078-14663639	U2OS	brain:	n/a	n/a
3	POLR2A	chr5:14661991-14665007	K562	blood:	n/a	n/a
4	PML	chr5:14663275-14665759	GM12878	blood:	n/a	n/a
5	NFIC	chr5:14663547-14664772	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:14663129-14665683	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:14663074-14665123	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:14662039-14666959	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14497930..14500445-chr5:14662848..14665215,2	MCF-7	breast:
2	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKH-1	chr5:14663208-14664704	NONHSAT100548

No data

Variant related genes	Relation type
FAM105B	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13159680	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149125	0.84[ASN][1000 genomes]
rs149497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152719	1.00[ASN][1000 genomes]
rs152970	1.00[ASN][1000 genomes]
rs152971	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152973	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153831	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153832	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153833	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153835	1.00[ASN][1000 genomes]
rs153836	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs153837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153934	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154667	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17249895	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2455240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25941	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25942	1.00[ASN][1000 genomes]
rs25943	1.00[ASN][1000 genomes]
rs28107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31993	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31994	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31995	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34087737	0.88[ASN][1000 genomes]
rs34617159	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39609	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs430035	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs455943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456977	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs457377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458863	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs461015	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs461056	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs461154	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription 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	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv597254	chr5:14661675-14664951	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14655200-14663800	Weak transcription	Pancreas	Pancrea
2	chr5:14661000-14663600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:14661000-14663600	Weak transcription	Adipose Nuclei	Adipose
4	chr5:14661000-14663600	Weak transcription	NH-A	brain
5	chr5:14661000-14663800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:14661200-14663800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:14661800-14663600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:14661800-14663800	Weak transcription	HUVEC	blood vessel
9	chr5:14662200-14663800	Enhancers	Placenta	Placenta
10	chr5:14662600-14663800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:14662800-14663600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:14662800-14663800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr5:14662800-14663800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:14662800-14663800	Enhancers	Fetal Heart	heart
15	chr5:14662800-14664200	Flanking Active TSS	NHEK	skin
16	chr5:14663000-14663600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:14663000-14663600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:14663000-14663600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:14663000-14663600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:14663000-14663800	Enhancers	Fetal Brain Male	brain
21	chr5:14663200-14663600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:14663200-14663600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:14663200-14663600	Enhancers	Primary B cells from cord blood	blood
24	chr5:14663200-14663600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:14663200-14663600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:14663200-14663600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:14663200-14663600	Enhancers	Colonic Mucosa	Colon
28	chr5:14663200-14663600	Enhancers	Colon Smooth Muscle	Colon
29	chr5:14663200-14663600	Enhancers	Fetal Brain Female	brain
30	chr5:14663200-14663600	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:14663200-14663600	Enhancers	Hela-S3	cervix
32	chr5:14663200-14663600	Enhancers	HepG2	liver
33	chr5:14663200-14663800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:14663200-14663800	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:14663200-14663800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:14663200-14663800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:14663200-14663800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:14663200-14663800	Enhancers	Liver	Liver
39	chr5:14663200-14663800	Enhancers	Brain Substantia Nigra	brain
40	chr5:14663200-14663800	Enhancers	Esophagus	oesophagus
41	chr5:14663200-14663800	Enhancers	Fetal Muscle Leg	muscle
42	chr5:14663200-14663800	Enhancers	Right Ventricle	heart
43	chr5:14663200-14663800	Enhancers	Small Intestine	intestine
44	chr5:14663200-14664200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:14663200-14664400	Flanking Active TSS	Dnd41	blood
46	chr5:14663400-14663600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:14663400-14663600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:14663400-14663600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:14663400-14663600	Enhancers	Primary T cells from cord blood	blood
50	chr5:14663400-14663600	Enhancers	Primary hematopoietic stem cells	blood

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