Variant report

Variant	rs7150735
Chromosome Location	chr14:39738354-39738355
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr14:39738081-39738454	K562	blood:	n/a	n/a
2	ZNF384	chr14:39738094-39738408	GM12878	blood:	n/a	n/a
3	SREBP1	chr14:39735131-39738498	GM12878	blood:	n/a	n/a
4	IRF1	chr14:39738254-39738446	K562	blood:	n/a	n/a
5	MXI1	chr14:39738325-39738376	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
2	chr14:39737724..39741488-chr14:39742832..39745249,3	K562	blood:
3	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
4	chr14:39652053..39654773-chr14:39736732..39739387,2	K562	blood:
5	chr14:39565337..39567780-chr14:39737837..39739519,2	MCF-7	breast:
6	chr14:39736982..39739247-chr14:39739513..39742286,3	K562	blood:
7	chr14:39734713..39738415-chr14:39740999..39745819,7	MCF-7	breast:
8	chr14:39733456..39736427-chr14:39738159..39742075,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258940	TF binding region
ENSG00000258940	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10131617	0.87[ASN][1000 genomes]
rs10133417	0.84[EUR][1000 genomes]
rs10134143	0.83[ASN][1000 genomes]
rs10134365	0.87[ASN][1000 genomes]
rs10138024	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10151659	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10162550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11620695	0.82[EUR][1000 genomes]
rs11621264	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621330	0.81[ASN][1000 genomes]
rs11621822	0.83[ASN][1000 genomes]
rs11624839	0.82[EUR][1000 genomes]
rs11626150	0.83[ASN][1000 genomes]
rs11627580	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628075	0.81[ASN][1000 genomes]
rs11845046	0.85[ASN][1000 genomes]
rs12587713	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588386	0.82[EUR][1000 genomes]
rs12588728	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12589831	0.84[ASN][1000 genomes]
rs12882709	0.83[ASN][1000 genomes]
rs12892482	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12896838	0.82[EUR][1000 genomes]
rs1594842	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109021	0.83[ASN][1000 genomes]
rs17109028	0.83[ASN][1000 genomes]
rs17109056	0.85[ASN][1000 genomes]
rs17109073	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897792	0.83[ASN][1000 genomes]
rs2274399	0.82[EUR][1000 genomes]
rs28626340	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28680827	0.82[ASN][1000 genomes]
rs35065854	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35184650	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35201135	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35613410	0.83[ASN][1000 genomes]
rs7143646	0.83[ASN][1000 genomes]
rs8004348	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs956108	0.84[EUR][1000 genomes]
rs9671943	0.82[EUR][1000 genomes]
rs9671953	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	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr14:39734600-39738800	Active TSS	Psoas Muscle	Psoas
2	chr14:39736600-39739000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:39737000-39738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:39737000-39741000	Weak transcription	Spleen	Spleen
5	chr14:39737000-39751800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:39737200-39738400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:39737200-39738800	Weak transcription	Left Ventricle	heart
8	chr14:39737200-39738800	Weak transcription	Pancreas	Pancrea
9	chr14:39737200-39739200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:39737200-39741600	Weak transcription	Esophagus	oesophagus
11	chr14:39737400-39738800	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:39737400-39739200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr14:39737600-39738600	Flanking Active TSS	NHEK	skin
14	chr14:39737600-39738800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:39737600-39739400	Flanking Active TSS	Hela-S3	cervix
16	chr14:39737800-39738400	Enhancers	Fetal Intestine Large	intestine
17	chr14:39737800-39738600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:39737800-39738600	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:39737800-39738600	Enhancers	Colon Smooth Muscle	Colon
20	chr14:39737800-39738800	Enhancers	Adipose Nuclei	Adipose
21	chr14:39737800-39738800	Enhancers	Fetal Brain Male	brain
22	chr14:39737800-39738800	Enhancers	Fetal Heart	heart
23	chr14:39737800-39738800	Weak transcription	Lung	lung
24	chr14:39737800-39739400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:39737800-39739400	Enhancers	Small Intestine	intestine
26	chr14:39737800-39740000	Enhancers	Liver	Liver
27	chr14:39737800-39748800	Weak transcription	Right Ventricle	heart
28	chr14:39737800-39750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:39737800-39763800	Weak transcription	Gastric	stomach
30	chr14:39738000-39738400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:39738000-39738400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:39738000-39738400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:39738000-39738600	Enhancers	Fetal Intestine Small	intestine
34	chr14:39738000-39738800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:39738000-39738800	Enhancers	Fetal Brain Female	brain
36	chr14:39738000-39738800	Weak transcription	Fetal Thymus	thymus
37	chr14:39738000-39738800	Weak transcription	Ovary	ovary
38	chr14:39738000-39738800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:39738000-39738800	Enhancers	NHDF-Ad	bronchial
40	chr14:39738000-39739000	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:39738000-39739000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:39738000-39739400	Enhancers	Primary hematopoietic stem cells	blood
43	chr14:39738000-39739800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:39738000-39739800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:39738000-39740000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:39738000-39740400	Enhancers	Primary T cells from cord blood	blood
47	chr14:39738000-39740400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:39738000-39740600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:39738000-39740600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:39738000-39740800	Weak transcription	H1 Cell Line	embryonic stem cell

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