Variant report

Variant	rs185903838
Chromosome Location	chr12:26110547-26110548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
2	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
3	TCF12	chr12:26110510-26111710	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:26110425-26111443	U87	brain:	n/a	n/a
5	POLR2A	chr12:26110543-26112977	HUVEC	blood vessel:	n/a	n/a
6	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
7	GATA2	chr12:26110546-26111227	HUVEC	blood vessel:	n/a	chr12:26110670-26110679
8	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a
9	EP300	chr12:26110547-26112446	SK-N-SH	brain:	n/a	chr12:26110571-26110585 chr12:26111523-26111539 chr12:26111625-26111641
10	POLR2A	chr12:26110355-26111489	U87	brain:	n/a	n/a
11	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251
12	POLR2A	chr12:26110174-26113244	MCF10A-Er-Src	breast:	n/a	n/a
13	SMARCC1	chr12:26110212-26111291	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26110518-26110568	SK-N-SH	brain:	n/a
2	chr12:26110518-26110568	Hepatocyte	liver:	n/a
3	chr12:26110518-26110568	SAEC	small airway:	n/a
4	chr12:26110518-26110568	HEEpiC	esophagus:	n/a
5	chr12:26110518-26110568	IMR90	lung:	fetal
6	chr12:26110518-26110568	AG10803	skin:	n/a
7	chr12:26110518-26110568	GM06990	blood:	n/a
8	chr12:26110518-26110568	U87	brain:	n/a
9	chr12:26110518-26110568	H1-hESC	embryonic stem cell:	embryo
10	chr12:26110518-26110568	K562	blood:	n/a
11	chr12:26110518-26110568	HRCEpiC	kidney:	n/a
12	chr12:26110518-26110568	GM12892	blood:	n/a
13	chr12:26110518-26110568	Caco-2	colon:	n/a
14	chr12:26110518-26110568	HEK293	kidney:	embryo
15	chr12:26110518-26110568	Hela-S3	cervix:	n/a
16	chr12:26110518-26110568	AoSMC	blood vessel:	n/a
17	chr12:26110518-26110568	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:26110518-26110568	NT2-D1	testis:	n/a
19	chr12:26110518-26110568	A549	lung:	n/a
20	chr12:26110518-26110568	AG09309	skin:	n/a
21	chr12:26110518-26110568	BE2_C	brain:	n/a
22	chr12:26110518-26110568	HRE	kidney:	n/a
23	chr12:26110518-26110568	AG04449	skin:	fetal
24	chr12:26110518-26110568	HCPEpiC	choroid plexus:	n/a
25	chr12:26110518-26110568	NB4	blood:	n/a
26	chr12:26110518-26110568	PFSK-1	brain:	n/a
27	chr12:26110518-26110568	HL-60	blood:	n/a
28	chr12:26110518-26110568	SK-N-MC	brain:	n/a
29	chr12:26110518-26110568	ProgFib	skin:	n/a
30	chr12:26110518-26110568	GM12891	blood:	n/a
31	chr12:26110518-26110568	ECC-1	luminal epithelium:	n/a
32	chr12:26110518-26110568	PANC-1	pancreas:	n/a
33	chr12:26110518-26110568	MCF-7	breast:	n/a
34	chr12:26110518-26110568	RPTEC	kidney:	n/a
35	chr12:26110518-26110568	HAEpiC	amniotic membrane:	n/a
36	chr12:26110518-26110568	PrEC	prostate:	n/a
37	chr12:26110518-26110568	AG09319	gingival:	n/a
38	chr12:26110518-26110568	HRPEpiC	eye:	n/a
39	chr12:26110518-26110568	HCF	heart:	n/a
40	chr12:26110518-26110568	NH-A	brain:	n/a
41	chr12:26110518-26110568	MCF10A-Er-Src	breast:	n/a
42	chr12:26110518-26110568	CMK	blood:	n/a
43	chr12:26110518-26110568	HCM	heart:	n/a
44	chr12:26110518-26110568	Jurkat	blood:	n/a
45	chr12:26110518-26110568	NHBE	bronchial:	n/a
46	chr12:26110518-26110568	HepG2	liver:	n/a
47	chr12:26110518-26110568	HUVEC	blood vessel:	n/a
48	chr12:26110518-26110568	GM19239	blood:	n/a
49	chr12:26110518-26110568	T-47D	breast:	n/a
50	chr12:26110518-26110568	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
RASSF8	TF binding region
RASSF8-AS1	TF binding region
RASSF8	CpG island
RASSF8-AS1	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv3337985	chr12:26109585-26113883	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3385039	chr12:26110185-26113083	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3323230	chr12:26110310-26112858	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1840315	chr12:26110484-26112134	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3366350	chr12:26110485-26113208	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
6	chr12:26101400-26110600	Weak transcription	Placenta	Placenta
7	chr12:26104000-26110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:26104200-26110600	Weak transcription	Liver	Liver
9	chr12:26105800-26110600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:26105800-26110600	Weak transcription	HSMMtube	muscle
11	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:26106400-26110600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:26106400-26110600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:26106800-26110600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:26107400-26110600	Weak transcription	Left Ventricle	heart
16	chr12:26108000-26110600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:26108000-26110600	Weak transcription	Fetal Stomach	stomach
18	chr12:26108800-26110600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:26109000-26110600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:26110000-26110600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:26110000-26110600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:26110000-26110600	Enhancers	Psoas Muscle	Psoas
23	chr12:26110000-26110600	Enhancers	NHLF	lung
24	chr12:26110000-26110800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:26110000-26111000	Flanking Active TSS	Hela-S3	cervix
26	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:26110200-26110600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:26110200-26110600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:26110200-26110600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:26110200-26110600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:26110200-26110600	Enhancers	Brain Anterior Caudate	brain
32	chr12:26110200-26110600	Enhancers	Fetal Lung	lung
33	chr12:26110200-26110600	Enhancers	Fetal Muscle Leg	muscle
34	chr12:26110200-26110600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:26110200-26110600	Weak transcription	HMEC	breast
36	chr12:26110200-26110600	Flanking Active TSS	NH-A	brain
37	chr12:26110200-26110600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr12:26110200-26110600	Enhancers	NHEK	skin
39	chr12:26110200-26110800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:26110200-26110800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:26110200-26110800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:26110200-26110800	Enhancers	Fetal Heart	heart
43	chr12:26110200-26110800	Weak transcription	Ovary	ovary
44	chr12:26110200-26110800	Flanking Active TSS	Osteobl	bone
45	chr12:26110200-26111000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:26110200-26111000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:26110200-26111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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