Variant report

Variant	rs532510439
Chromosome Location	chr17:15689097-15689098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15689091-15689141	BE2_C	brain:	n/a
2	chr17:15689091-15689141	LNCaP	prostate:	n/a
3	chr17:15689091-15689141	HMEC	breast:	n/a
4	chr17:15689091-15689141	K562	blood:	n/a
5	chr17:15689091-15689141	GM12892	blood:	n/a
6	chr17:15689091-15689141	BJ	skin:	n/a
7	chr17:15689091-15689141	ProgFib	skin:	n/a
8	chr17:15689091-15689141	Hepatocyte	liver:	n/a
9	chr17:15689091-15689141	PrEC	prostate:	n/a
10	chr17:15689091-15689141	NB4	blood:	n/a
11	chr17:15689091-15689141	HepG2	liver:	n/a
12	chr17:15689091-15689141	HAEpiC	amniotic membrane:	n/a
13	chr17:15689091-15689141	HRCEpiC	kidney:	n/a
14	chr17:15689091-15689141	HCT-116	colon:	n/a
15	chr17:15689091-15689141	AG04450	lung:	fetal
16	chr17:15689091-15689141	AG10803	skin:	n/a
17	chr17:15689091-15689141	AG04449	skin:	fetal
18	chr17:15689091-15689141	NT2-D1	testis:	n/a
19	chr17:15689091-15689141	PFSK-1	brain:	n/a
20	chr17:15689091-15689141	HL-60	blood:	n/a
21	chr17:15689091-15689141	HPAEpiC	pulmonary alveolar:	n/a
22	chr17:15689091-15689141	MCF10A-Er-Src	breast:	n/a
23	chr17:15689091-15689141	HIPEpiC	eye:	n/a
24	chr17:15689091-15689141	HNPCEpiC	eye:	n/a
25	chr17:15689091-15689141	PANC-1	pancreas:	n/a
26	chr17:15689091-15689141	HEK293	kidney:	embryo
27	chr17:15689091-15689141	SK-N-SH_RA	brain:	n/a
28	chr17:15689091-15689141	HCF	heart:	n/a
29	chr17:15689091-15689141	MCF-7	breast:	n/a
30	chr17:15689091-15689141	GM12891	blood:	n/a
31	chr17:15689091-15689141	HUVEC	blood vessel:	n/a
32	chr17:15689091-15689141	SK-N-MC	brain:	n/a
33	chr17:15689091-15689141	SK-N-SH	brain:	n/a
34	chr17:15689091-15689141	SAEC	small airway:	n/a
35	chr17:15689091-15689141	IMR90	lung:	fetal
36	chr17:15689091-15689141	NH-A	brain:	n/a
37	chr17:15689091-15689141	Caco-2	colon:	n/a
38	chr17:15689091-15689141	NHDF-neo	bronchial:	n/a
39	chr17:15689091-15689141	GM19239	blood:	n/a
40	chr17:15689091-15689141	HEEpiC	esophagus:	n/a
41	chr17:15689091-15689141	GM06990	blood:	n/a
42	chr17:15689091-15689141	U87	brain:	n/a
43	chr17:15689091-15689141	RPTEC	kidney:	n/a
44	chr17:15689091-15689141	HCM	heart:	n/a
45	chr17:15689091-15689141	HRE	kidney:	n/a
46	chr17:15689091-15689141	AoSMC	blood vessel:	n/a
47	chr17:15689091-15689141	ECC-1	luminal epithelium:	n/a
48	chr17:15689091-15689141	NHBE	bronchial:	n/a
49	chr17:15689091-15689141	GM12878	blood:	n/a
50	chr17:15689091-15689141	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
MEIS3P1	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv907705	chr17:15611495-15717546	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
9	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv442411	chr17:15677001-15694785	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
11	esv3406800	chr17:15688452-15691000	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	esv3342426	chr17:15688677-15690975	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15686400-15689400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:15686400-15689400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:15686600-15689200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr17:15686600-15689200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:15686600-15689200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:15686600-15689200	Weak transcription	Fetal Brain Female	brain
7	chr17:15686600-15689200	Weak transcription	Ovary	ovary
8	chr17:15686600-15689200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:15686600-15689200	Weak transcription	Right Ventricle	heart
10	chr17:15686600-15689200	Weak transcription	HSMM	muscle
11	chr17:15686600-15689200	Weak transcription	NHLF	lung
12	chr17:15686600-15689400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:15686600-15689400	Weak transcription	Aorta	Aorta
14	chr17:15686600-15689400	Weak transcription	Colonic Mucosa	Colon
15	chr17:15686600-15689400	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:15686600-15689400	Weak transcription	Left Ventricle	heart
17	chr17:15686600-15689400	Weak transcription	HMEC	breast
18	chr17:15686600-15689600	Weak transcription	Brain Germinal Matrix	brain
19	chr17:15686600-15689600	Weak transcription	Esophagus	oesophagus
20	chr17:15686600-15689600	Weak transcription	Lung	lung
21	chr17:15686600-15689600	Weak transcription	Pancreas	Pancrea
22	chr17:15686600-15689600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:15686600-15689600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:15686600-15689600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:15686600-15689800	Weak transcription	Placenta	Placenta
26	chr17:15686600-15690600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:15686600-15691400	Weak transcription	Gastric	stomach
28	chr17:15686800-15689200	Weak transcription	Osteobl	bone
29	chr17:15686800-15689400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:15687000-15689400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:15687600-15689200	Enhancers	Fetal Stomach	stomach
32	chr17:15687800-15689400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:15687800-15689400	Weak transcription	Psoas Muscle	Psoas
34	chr17:15687800-15689600	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:15687800-15690000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:15688000-15689200	Weak transcription	Fetal Heart	heart
37	chr17:15688200-15689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:15688200-15689200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:15688200-15689200	Weak transcription	Right Atrium	heart
40	chr17:15688200-15689200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr17:15688200-15689400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:15688200-15689600	Weak transcription	Fetal Lung	lung
43	chr17:15688400-15689200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:15688600-15689200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:15688600-15689200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:15688800-15689200	Enhancers	Fetal Muscle Trunk	muscle
47	chr17:15689000-15689200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:15689000-15689200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:15689000-15689200	Enhancers	Adipose Nuclei	Adipose
50	chr17:15689000-15689200	Enhancers	Brain Substantia Nigra	brain

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