Variant report

Variant	rs3743595
Chromosome Location	chr16:12142365-12142366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:12141717-12142513	K562	blood:	n/a	n/a
2	MAX	chr16:12141767-12142415	K562	blood:	n/a	n/a
3	JUN	chr16:12141645-12142629	K562	blood:	n/a	chr16:12142197-12142211 chr16:12141956-12141963 chr16:12141956-12141964
4	BHLHE40	chr16:12141776-12142532	K562	blood:	n/a	n/a
5	MYC	chr16:12141818-12142490	K562	blood:	n/a	n/a
6	ZNF384	chr16:12141753-12142422	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:12142335-12142385	Caco-2	colon:	n/a
2	chr16:12142335-12142385	BE2_C	brain:	n/a
3	chr16:12142335-12142385	AG09309	skin:	n/a
4	chr16:12142335-12142385	HL-60	blood:	n/a
5	chr16:12142335-12142385	HCT-116	colon:	n/a
6	chr16:12142335-12142385	HEEpiC	esophagus:	n/a
7	chr16:12142335-12142385	AG04450	lung:	fetal
8	chr16:12142335-12142385	ovcar-3	ovarian:	n/a
9	chr16:12142335-12142385	HRPEpiC	eye:	n/a
10	chr16:12142335-12142385	GM19239	blood:	n/a
11	chr16:12142335-12142385	MCF10A-Er-Src	breast:	n/a
12	chr16:12142335-12142385	PrEC	prostate:	n/a
13	chr16:12142335-12142385	AG10803	skin:	n/a
14	chr16:12142335-12142385	NHDF-neo	bronchial:	n/a
15	chr16:12142335-12142385	HIPEpiC	eye:	n/a
16	chr16:12142335-12142385	H1-hESC	embryonic stem cell:	embryo
17	chr16:12142335-12142385	SK-N-SH	brain:	n/a
18	chr16:12142335-12142385	IMR90	lung:	fetal
19	chr16:12142335-12142385	SK-N-SH_RA	brain:	n/a
20	chr16:12142335-12142385	AG09319	gingival:	n/a
21	chr16:12142335-12142385	HRCEpiC	kidney:	n/a
22	chr16:12142335-12142385	NH-A	brain:	n/a
23	chr16:12142335-12142385	HCM	heart:	n/a
24	chr16:12142335-12142385	HNPCEpiC	eye:	n/a
25	chr16:12142335-12142385	HCPEpiC	choroid plexus:	n/a
26	chr16:12142335-12142385	BJ	skin:	n/a
27	chr16:12142335-12142385	RPTEC	kidney:	n/a
28	chr16:12142335-12142385	NT2-D1	testis:	n/a
29	chr16:12142335-12142385	PANC-1	pancreas:	n/a
30	chr16:12142335-12142385	Hela-S3	cervix:	n/a
31	chr16:12142335-12142385	HEK293	kidney:	embryo
32	chr16:12142335-12142385	HAEpiC	amniotic membrane:	n/a
33	chr16:12142335-12142385	GM12891	blood:	n/a
34	chr16:12142335-12142385	PFSK-1	brain:	n/a
35	chr16:12142335-12142385	HRE	kidney:	n/a
36	chr16:12142335-12142385	CMK	blood:	n/a
37	chr16:12142335-12142385	AG04449	skin:	fetal
38	chr16:12142335-12142385	A549	lung:	n/a
39	chr16:12142335-12142385	GM12878	blood:	n/a
40	chr16:12142335-12142385	AoSMC	blood vessel:	n/a
41	chr16:12142335-12142385	GM06990	blood:	n/a
42	chr16:12142335-12142385	U87	brain:	n/a
43	chr16:12142335-12142385	HMEC	breast:	n/a
44	chr16:12142335-12142385	HUVEC	blood vessel:	n/a
45	chr16:12142335-12142385	SK-N-MC	brain:	n/a
46	chr16:12142335-12142385	HCF	heart:	n/a
47	chr16:12142335-12142385	HepG2	liver:	n/a
48	chr16:12142335-12142385	HPAEpiC	pulmonary alveolar:	n/a
49	chr16:12142335-12142385	ECC-1	luminal epithelium:	n/a
50	chr16:12142335-12142385	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12141844..12143563-chr16:12144575..12146387,2	K562	blood:

No data

Variant related genes	Relation type
SNX29	TF binding region
SNX29	CpG island
ENSG00000048471	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv977110	chr16:12123355-12146787	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12112000-12144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:12119200-12146400	Weak transcription	Fetal Lung	lung
4	chr16:12119600-12148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:12121400-12155000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:12122800-12144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:12124400-12156600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:12124800-12155000	Weak transcription	NH-A	brain
9	chr16:12126400-12150000	Weak transcription	Small Intestine	intestine
10	chr16:12130000-12153000	Weak transcription	Ovary	ovary
11	chr16:12131200-12144000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:12131200-12153000	Weak transcription	Right Atrium	heart
13	chr16:12131200-12156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:12131400-12148200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:12131400-12150800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:12131400-12150800	Weak transcription	HSMMtube	muscle
17	chr16:12131600-12154800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:12132000-12150200	Weak transcription	Osteobl	bone
19	chr16:12132800-12154600	Weak transcription	Hela-S3	cervix
20	chr16:12133000-12147400	Weak transcription	NHDF-Ad	bronchial
21	chr16:12133000-12148200	Weak transcription	Fetal Brain Female	brain
22	chr16:12133000-12152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:12133000-12153600	Weak transcription	Fetal Kidney	kidney
24	chr16:12133800-12156400	Weak transcription	Stomach Mucosa	stomach
25	chr16:12134000-12145200	Weak transcription	Placenta	Placenta
26	chr16:12134200-12153000	Weak transcription	HepG2	liver
27	chr16:12136200-12151600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:12136400-12145200	Weak transcription	Fetal Intestine Large	intestine
29	chr16:12136400-12152600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:12136800-12144800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:12138400-12149800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:12138400-12156800	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:12138800-12151800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr16:12139200-12151400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr16:12139400-12172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:12139800-12144600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:12139800-12146600	Strong transcription	Liver	Liver
38	chr16:12140000-12144400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:12140000-12146200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:12140000-12151200	Strong transcription	Fetal Stomach	stomach
41	chr16:12140200-12143000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:12140200-12143000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr16:12140200-12143000	Strong transcription	NHEK	skin
44	chr16:12140200-12144600	Strong transcription	Lung	lung
45	chr16:12140200-12146000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr16:12140200-12150400	Strong transcription	Adipose Nuclei	Adipose
47	chr16:12140400-12142800	Strong transcription	Pancreas	Pancrea
48	chr16:12140400-12143200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr16:12140400-12144400	Strong transcription	Primary T cells from cord blood	blood
50	chr16:12140400-12146600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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