Variant report

Variant	rs574267524
Chromosome Location	chr16:12192436-12192437
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	chr16:12192430-12192480	HIPEpiC	eye:	n/a
2	chr16:12192430-12192480	HL-60	blood:	n/a
3	chr16:12192430-12192480	NB4	blood:	n/a
4	chr16:12192430-12192480	CMK	blood:	n/a
5	chr16:12192430-12192480	HCPEpiC	choroid plexus:	n/a
6	chr16:12192430-12192480	HCT-116	colon:	n/a
7	chr16:12192430-12192480	HRE	kidney:	n/a
8	chr16:12192430-12192480	SAEC	small airway:	n/a
9	chr16:12192430-12192480	NT2-D1	testis:	n/a
10	chr16:12192430-12192480	GM12891	blood:	n/a
11	chr16:12192430-12192480	GM12892	blood:	n/a
12	chr16:12192430-12192480	K562	blood:	n/a
13	chr16:12192430-12192480	AG04449	skin:	fetal
14	chr16:12192430-12192480	HMEC	breast:	n/a
15	chr16:12192430-12192480	PrEC	prostate:	n/a
16	chr16:12192430-12192480	HCF	heart:	n/a
17	chr16:12192430-12192480	SK-N-SH	brain:	n/a
18	chr16:12192430-12192480	SKMC	muscle:	n/a
19	chr16:12192430-12192480	Jurkat	blood:	n/a
20	chr16:12192430-12192480	AoSMC	blood vessel:	n/a
21	chr16:12192430-12192480	A549	lung:	n/a
22	chr16:12192430-12192480	HUVEC	blood vessel:	n/a
23	chr16:12192430-12192480	HCM	heart:	n/a
24	chr16:12192430-12192480	AG09319	gingival:	n/a
25	chr16:12192430-12192480	PANC-1	pancreas:	n/a
26	chr16:12192430-12192480	HRPEpiC	eye:	n/a
27	chr16:12192430-12192480	RPTEC	kidney:	n/a
28	chr16:12192430-12192480	HAEpiC	amniotic membrane:	n/a
29	chr16:12192430-12192480	HepG2	liver:	n/a
30	chr16:12192430-12192480	HRCEpiC	kidney:	n/a
31	chr16:12192430-12192480	MCF-7	breast:	n/a
32	chr16:12192430-12192480	SK-N-MC	brain:	n/a
33	chr16:12192430-12192480	T-47D	breast:	n/a
34	chr16:12192430-12192480	HEEpiC	esophagus:	n/a
35	chr16:12192430-12192480	NHBE	bronchial:	n/a
36	chr16:12192430-12192480	AG09309	skin:	n/a
37	chr16:12192430-12192480	ProgFib	skin:	n/a
38	chr16:12192430-12192480	GM19239	blood:	n/a
39	chr16:12192430-12192480	HNPCEpiC	eye:	n/a
40	chr16:12192430-12192480	H1-hESC	embryonic stem cell:	embryo
41	chr16:12192430-12192480	Hela-S3	cervix:	n/a
42	chr16:12192430-12192480	GM12878	blood:	n/a
43	chr16:12192430-12192480	U87	brain:	n/a
44	chr16:12192430-12192480	NH-A	brain:	n/a
45	chr16:12192430-12192480	HPAEpiC	pulmonary alveolar:	n/a
46	chr16:12192430-12192480	GM06990	blood:	n/a
47	chr16:12192430-12192480	PFSK-1	brain:	n/a
48	chr16:12192430-12192480	Hepatocyte	liver:	n/a
49	chr16:12192430-12192480	AG04450	lung:	fetal
50	chr16:12192430-12192480	AG10803	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000261293	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3337175	chr16:12191551-12195249	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12178600-12199600	Weak transcription	Aorta	Aorta
2	chr16:12184200-12193000	Enhancers	Fetal Thymus	thymus
3	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:12186800-12213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:12188000-12194400	Strong transcription	GM12878-XiMat	blood
6	chr16:12188400-12193600	Enhancers	Placenta	Placenta
7	chr16:12189200-12192600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:12189200-12192600	Enhancers	Spleen	Spleen
9	chr16:12189600-12192800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr16:12189600-12192800	Enhancers	Fetal Lung	lung
11	chr16:12189600-12193600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:12189600-12194000	Enhancers	Fetal Muscle Leg	muscle
13	chr16:12189600-12194000	Enhancers	Ovary	ovary
14	chr16:12189600-12204000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:12189600-12204800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:12189600-12204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:12189800-12192800	Weak transcription	Primary T cells from cord blood	blood
18	chr16:12189800-12192800	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:12189800-12205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:12189800-12209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:12190000-12199600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:12190000-12220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:12190000-12220400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:12190200-12194400	Strong transcription	Primary B cells from cord blood	blood
26	chr16:12190200-12210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:12190400-12193800	Enhancers	Esophagus	oesophagus
28	chr16:12190600-12194600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:12190600-12195800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr16:12190800-12195000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:12190800-12210600	Weak transcription	Pancreas	Pancrea
32	chr16:12191000-12192800	Enhancers	K562	blood
33	chr16:12191000-12197400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:12191200-12192600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:12191200-12193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:12191200-12194200	Enhancers	Fetal Muscle Trunk	muscle
37	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:12191400-12193600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:12191400-12195200	Weak transcription	Fetal Brain Female	brain
40	chr16:12191400-12213600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr16:12191800-12194400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:12191800-12205000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:12191800-12207800	Weak transcription	Osteobl	bone
44	chr16:12192000-12192600	Enhancers	Fetal Brain Male	brain
45	chr16:12192000-12192800	Enhancers	Stomach Smooth Muscle	stomach
46	chr16:12192000-12193200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:12192000-12193200	Weak transcription	Right Ventricle	heart
48	chr16:12192000-12193800	Weak transcription	HSMM	muscle
49	chr16:12192000-12195000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:12192000-12195400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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