Variant report

Variant	rs367989621
Chromosome Location	chr12:49182499-49182500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:49182327-49183683	Hela-S3	cervix:	n/a	n/a
2	MAX	chr12:49182216-49183279	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
3	POLR2A	chr12:49182373-49183101	H1-neurons	neurons:	n/a	n/a
4	MAX	chr12:49182357-49183714	HepG2	liver:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
5	ZNF263	chr12:49182161-49182572	HEK293-T-REx	kidney:	n/a	n/a
6	POLR2A	chr12:49182329-49183009	Hela-S3	cervix:	n/a	n/a
7	MAX	chr12:49182236-49182568	Hela-S3	cervix:	n/a	n/a
8	MAX	chr12:49182217-49183991	A549	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
9	ZBTB7A	chr12:49182077-49183971	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
10	TAF1	chr12:49182245-49183915	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:49182415-49183032	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:49182459-49183675	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:49182325-49183182	MCF-7	breast:	n/a	n/a
14	MAZ	chr12:49182291-49183213	Hela-S3	cervix:	n/a	chr12:49183055-49183065
15	SMARCB1	chr12:49181576-49183529	Hela-S3	cervix:	n/a	n/a
16	MAX	chr12:49182286-49183962	ECC-1	luminal epithelium:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
17	HCFC1	chr12:49182114-49184467	Hela-S3	cervix:	n/a	n/a
18	SIN3A	chr12:49182056-49183183	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:49182240-49182510	SAEC	small airway:	n/a	n/a
20	REST	chr12:49182184-49183944	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr12:49182109-49183722	ECC-1	luminal epithelium:	n/a	n/a
22	CTBP2	chr12:49181988-49183226	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr12:49181877-49184070	ECC-1	luminal epithelium:	n/a	chr12:49183052-49183061
24	TCF12	chr12:49182272-49183741	ECC-1	luminal epithelium:	n/a	chr12:49183639-49183646 chr12:49183484-49183494 chr12:49183470-49183477 chr12:49183592-49183602
25	POLR2A	chr12:49182354-49183021	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr12:49182475-49183083	ProgFib	skin:	n/a	n/a
27	POLR2A	chr12:49182244-49183081	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:49182402-49183144	MCF-7	breast:	n/a	n/a
29	MXI1	chr12:49181694-49183205	IMR90	lung:	n/a	n/a
30	MAZ	chr12:49182165-49183901	IMR90	lung:	n/a	chr12:49183263-49183273 chr12:49183055-49183065
31	POLR2A	chr12:49182329-49183023	Hela-S3	cervix:	n/a	n/a
32	MXI1	chr12:49180368-49183259	SK-N-SH	brain:	n/a	n/a
33	MAX	chr12:49182320-49183693	MCF-7	breast:	n/a	chr12:49183263-49183273 chr12:49183055-49183065

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49182479-49182529	Jurkat	blood:	n/a
2	chr12:49182479-49182529	AG04449	skin:	fetal
3	chr12:49182479-49182529	HCF	heart:	n/a
4	chr12:49182479-49182529	ProgFib	skin:	n/a
5	chr12:49182479-49182529	SAEC	small airway:	n/a
6	chr12:49182479-49182529	Hela-S3	cervix:	n/a
7	chr12:49182479-49182529	GM12891	blood:	n/a
8	chr12:49182479-49182529	MCF10A-Er-Src	breast:	n/a
9	chr12:49182479-49182529	SK-N-MC	brain:	n/a
10	chr12:49182479-49182529	PFSK-1	brain:	n/a
11	chr12:49182479-49182529	GM12892	blood:	n/a
12	chr12:49182479-49182529	NHBE	bronchial:	n/a
13	chr12:49182479-49182529	AG04450	lung:	fetal
14	chr12:49182479-49182529	NH-A	brain:	n/a
15	chr12:49182479-49182529	HepG2	liver:	n/a
16	chr12:49182479-49182529	HL-60	blood:	n/a
17	chr12:49182479-49182529	Caco-2	colon:	n/a
18	chr12:49182479-49182529	MCF-7	breast:	n/a
19	chr12:49182479-49182529	A549	lung:	n/a
20	chr12:49182479-49182529	HRPEpiC	eye:	n/a
21	chr12:49182479-49182529	Hepatocyte	liver:	n/a
22	chr12:49182479-49182529	BE2_C	brain:	n/a
23	chr12:49182479-49182529	GM06990	blood:	n/a
24	chr12:49182479-49182529	HCT-116	colon:	n/a
25	chr12:49182479-49182529	ECC-1	luminal epithelium:	n/a
26	chr12:49182479-49182529	NHDF-neo	bronchial:	n/a
27	chr12:49182479-49182529	HMEC	breast:	n/a
28	chr12:49182479-49182529	AoSMC	blood vessel:	n/a
29	chr12:49182479-49182529	PANC-1	pancreas:	n/a
30	chr12:49182479-49182529	HRCEpiC	kidney:	n/a
31	chr12:49182479-49182529	U87	brain:	n/a
32	chr12:49182479-49182529	ovcar-3	ovarian:	n/a
33	chr12:49182479-49182529	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:49182479-49182529	HUVEC	blood vessel:	n/a
35	chr12:49182479-49182529	NT2-D1	testis:	n/a
36	chr12:49182479-49182529	H1-hESC	embryonic stem cell:	embryo
37	chr12:49182479-49182529	HCPEpiC	choroid plexus:	n/a
38	chr12:49182479-49182529	HAEpiC	amniotic membrane:	n/a
39	chr12:49182479-49182529	K562	blood:	n/a
40	chr12:49182479-49182529	SK-N-SH_RA	brain:	n/a
41	chr12:49182479-49182529	AG09309	skin:	n/a
42	chr12:49182479-49182529	HEEpiC	esophagus:	n/a
43	chr12:49182479-49182529	T-47D	breast:	n/a
44	chr12:49182479-49182529	PrEC	prostate:	n/a
45	chr12:49182479-49182529	IMR90	lung:	fetal
46	chr12:49182479-49182529	GM19239	blood:	n/a
47	chr12:49182479-49182529	LNCaP	prostate:	n/a
48	chr12:49182479-49182529	SKMC	muscle:	n/a
49	chr12:49182479-49182529	HRE	kidney:	n/a
50	chr12:49182479-49182529	SK-N-SH	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
2	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:
3	chr12:49074245..49078609-chr12:49180778..49182867,4	MCF-7	breast:
4	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
5	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
6	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
7	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
8	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
9	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
10	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000257660	TF binding region
ADCY6	CpG island
ENSG00000257660	CpG island
ENSG00000139620	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000264201	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000257653	Chromatin interaction
ENSG00000174233	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3409586	chr12:49181735-49184833	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
3	esv3359848	chr12:49182310-49184858	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49180800-49182600	Flanking Active TSS	Fetal Muscle Leg	muscle
2	chr12:49181200-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:49181200-49183200	Active TSS	HSMMtube	muscle
4	chr12:49181200-49183800	Active TSS	Aorta	Aorta
5	chr12:49181400-49182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:49181400-49183600	Active TSS	HSMM	muscle
7	chr12:49181600-49182600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:49181600-49182600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:49181600-49182600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:49181600-49182600	Flanking Active TSS	Placenta	Placenta
11	chr12:49181600-49183600	Active TSS	Fetal Heart	heart
12	chr12:49181600-49183600	Active TSS	Fetal Intestine Small	intestine
13	chr12:49181600-49183600	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:49181600-49183800	Active TSS	Fetal Kidney	kidney
15	chr12:49181600-49184200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:49181800-49183200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:49181800-49183400	Active TSS	Ovary	ovary
18	chr12:49181800-49183600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:49181800-49183600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:49181800-49183600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:49181800-49183600	Active TSS	Left Ventricle	heart
22	chr12:49181800-49183600	Active TSS	NHLF	lung
23	chr12:49181800-49183800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:49181800-49183800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:49181800-49183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:49181800-49183800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:49181800-49183800	Active TSS	Brain Angular Gyrus	brain
28	chr12:49181800-49183800	Active TSS	Fetal Intestine Large	intestine
29	chr12:49181800-49183800	Active TSS	Gastric	stomach
30	chr12:49181800-49183800	Active TSS	Right Atrium	heart
31	chr12:49181800-49183800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr12:49181800-49184000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:49181800-49184000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:49181800-49184200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:49182000-49183200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:49182000-49183200	Active TSS	Fetal Lung	lung
37	chr12:49182000-49183200	Active TSS	Spleen	Spleen
38	chr12:49182000-49183400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:49182000-49183600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:49182000-49183600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:49182000-49183600	Active TSS	Brain Germinal Matrix	brain
42	chr12:49182000-49183600	Active TSS	Colonic Mucosa	Colon
43	chr12:49182000-49183600	Active TSS	Lung	lung
44	chr12:49182000-49183600	Active TSS	Pancreas	Pancrea
45	chr12:49182000-49183600	Active TSS	Stomach Mucosa	stomach
46	chr12:49182000-49183600	Active TSS	HepG2	liver
47	chr12:49182000-49183600	Active TSS	Osteobl	bone
48	chr12:49182000-49183800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr12:49182000-49183800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:49182000-49183800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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