Variant report

Variant	rs559374656
Chromosome Location	chr8:119634674-119634675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:119634633-119635054	GM12878	blood:	n/a	chr8:119634896-119634907
2	POLR2A	chr8:119633348-119634745	GM18951	blood:	n/a	n/a
3	MAX	chr8:119634492-119634738	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr8:119633978-119635125	Hela-S3	cervix:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119634240-119634249
5	POLR2A	chr8:119632798-119634952	GM12878	blood:	n/a	n/a
6	MAX	chr8:119632804-119634970	MCF-7	breast:	n/a	chr8:119633696-119633706 chr8:119634122-119634132
7	GTF2F1	chr8:119634495-119635064	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr8:119632789-119634771	MCF-7	breast:	n/a	chr8:119633545-119633557 chr8:119634209-119634221 chr8:119633314-119633325 chr8:119633548-119633560
9	SIN3A	chr8:119633376-119634896	H1-hESC	embryonic stem cell:	n/a	n/a
10	RUNX3	chr8:119634418-119634926	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:119632895-119634737	GM18526	blood:	n/a	n/a
12	MAX	chr8:119634040-119635000	Hela-S3	cervix:	n/a	chr8:119634122-119634132
13	EBF1	chr8:119634645-119635002	GM12878	blood:	n/a	chr8:119634896-119634907
14	POLR2A	chr8:119633895-119635137	Raji	blood:	n/a	n/a
15	POLR2A	chr8:119633765-119634747	Hela-S3	cervix:	n/a	n/a
16	RUNX3	chr8:119634388-119634873	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:119634420-119634707	ECC-1	luminal epithelium:	n/a	n/a
18	STAT1	chr8:119633796-119634686	GM12878	blood:	n/a	chr8:119634103-119634115
19	MAZ	chr8:119633271-119634680	GM12878	blood:	n/a	chr8:119633696-119633706 chr8:119634122-119634132
20	HCFC1	chr8:119633557-119635458	Hela-S3	cervix:	n/a	n/a
21	SMC3	chr8:119633846-119634973	Hela-S3	cervix:	n/a	chr8:119634638-119634648
22	ZKSCAN1	chr8:119634605-119634904	Hela-S3	cervix:	n/a	n/a
23	PML	chr8:119634416-119634899	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:119633498-119634780	MCF-7	breast:	n/a	n/a
25	MAZ	chr8:119634025-119634992	Hela-S3	cervix:	n/a	chr8:119634122-119634132
26	ZNF143	chr8:119633700-119634921	H1-hESC	embryonic stem cell:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119633885-119633895 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119634240-119634249
27	ZNF143	chr8:119632863-119634989	GM12878	blood:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119633885-119633895 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119633485-119633495 chr8:119634240-119634249
28	POLR2A	chr8:119634387-119634691	HCT-116	colon:	n/a	n/a
29	POLR2A	chr8:119634393-119634771	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr8:119634396-119634693	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZEB1	chr8:119634427-119634940	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:119634545-119634884	ProgFib	skin:	n/a	n/a
33	POLR2A	chr8:119634396-119634735	GM12878	blood:	n/a	n/a
34	RFX5	chr8:119633981-119634718	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr8:119634568-119634709	GM12878	blood:	n/a	chr8:119634639-119634649
36	POLR2A	chr8:119634410-119634787	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:119634672-119634674	A549	lung:	n/a	n/a
38	EBF1	chr8:119634500-119635105	GM12878	blood:	n/a	chr8:119634896-119634907
39	CREB1	chr8:119634386-119634741	A549	lung:	n/a	n/a
40	SIX5	chr8:119634037-119634678	A549	lung:	n/a	chr8:119634451-119634460 chr8:119634240-119634249 chr8:119634449-119634458 chr8:119634237-119634251 chr8:119634238-119634247
41	POLR2A	chr8:119633947-119634760	MCF-7	breast:	n/a	n/a
42	ZNF263	chr8:119633656-119634830	HEK293-T-REx	kidney:	n/a	chr8:119633938-119633959 chr8:119633904-119633925
43	CHD1	chr8:119634554-119635171	GM12878	blood:	n/a	chr8:119634634-119634644
44	POLR2A	chr8:119634534-119634698	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr8:119634422-119634879	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr8:119634424-119634728	HCT-116	colon:	n/a	n/a
47	CHD2	chr8:119632938-119634983	GM12878	blood:	n/a	chr8:119634634-119634644
48	CHD2	chr8:119633834-119634978	Hela-S3	cervix:	n/a	chr8:119634634-119634644
49	WRNIP1	chr8:119634487-119635182	GM12878	blood:	n/a	n/a
50	BHLHE40	chr8:119633139-119634823	GM12878	blood:	n/a	chr8:119634206-119634222

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:119634634-119634684	GM12878	blood:	n/a
2	chr8:119634634-119634684	U87	brain:	n/a
3	chr8:119634634-119634684	AG09319	gingival:	n/a
4	chr8:119634634-119634684	SK-N-SH	brain:	n/a
5	chr8:119634634-119634684	HepG2	liver:	n/a
6	chr8:119634634-119634684	GM19239	blood:	n/a
7	chr8:119634634-119634684	AG04450	lung:	fetal
8	chr8:119634634-119634684	GM06990	blood:	n/a
9	chr8:119634634-119634684	Hela-S3	cervix:	n/a
10	chr8:119634634-119634684	Caco-2	colon:	n/a
11	chr8:119634634-119634684	H1-hESC	embryonic stem cell:	embryo
12	chr8:119634634-119634684	K562	blood:	n/a
13	chr8:119634634-119634684	NH-A	brain:	n/a
14	chr8:119634634-119634684	ovcar-3	ovarian:	n/a
15	chr8:119634634-119634684	PrEC	prostate:	n/a
16	chr8:119634634-119634684	Jurkat	blood:	n/a
17	chr8:119634634-119634684	A549	lung:	n/a
18	chr8:119634634-119634684	HPAEpiC	pulmonary alveolar:	n/a
19	chr8:119634634-119634684	HCF	heart:	n/a
20	chr8:119634634-119634684	IMR90	lung:	fetal
21	chr8:119634634-119634684	HL-60	blood:	n/a
22	chr8:119634634-119634684	NHBE	bronchial:	n/a
23	chr8:119634634-119634684	SK-N-SH_RA	brain:	n/a
24	chr8:119634634-119634684	HCPEpiC	choroid plexus:	n/a
25	chr8:119634634-119634684	HUVEC	blood vessel:	n/a
26	chr8:119634634-119634684	HRE	kidney:	n/a
27	chr8:119634634-119634684	PANC-1	pancreas:	n/a
28	chr8:119634634-119634684	BE2_C	brain:	n/a
29	chr8:119634634-119634684	AG09309	skin:	n/a
30	chr8:119634634-119634684	AoSMC	blood vessel:	n/a
31	chr8:119634634-119634684	HIPEpiC	eye:	n/a
32	chr8:119634634-119634684	NHDF-neo	bronchial:	n/a
33	chr8:119634634-119634684	NT2-D1	testis:	n/a
34	chr8:119634634-119634684	MCF10A-Er-Src	breast:	n/a
35	chr8:119634634-119634684	SK-N-MC	brain:	n/a
36	chr8:119634634-119634684	AG04449	skin:	fetal
37	chr8:119634634-119634684	BJ	skin:	n/a
38	chr8:119634634-119634684	RPTEC	kidney:	n/a
39	chr8:119634634-119634684	HAEpiC	amniotic membrane:	n/a
40	chr8:119634634-119634684	SKMC	muscle:	n/a
41	chr8:119634634-119634684	AG10803	skin:	n/a
42	chr8:119634634-119634684	HRPEpiC	eye:	n/a
43	chr8:119634634-119634684	CMK	blood:	n/a
44	chr8:119634634-119634684	HMEC	breast:	n/a
45	chr8:119634634-119634684	ProgFib	skin:	n/a
46	chr8:119634634-119634684	PFSK-1	brain:	n/a
47	chr8:119634634-119634684	HCM	heart:	n/a
48	chr8:119634634-119634684	GM12892	blood:	n/a
49	chr8:119634634-119634684	HNPCEpiC	eye:	n/a
50	chr8:119634634-119634684	HCT-116	colon:	n/a

Variant related genes	Relation type
SAMD12	TF binding region
SAMD12	CpG island

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	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv972574	chr8:119634666-119651085	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119632600-119635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:119632800-119635000	Active TSS	Colonic Mucosa	Colon
3	chr8:119632800-119635000	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:119633000-119634800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:119633000-119634800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:119633000-119634800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr8:119633000-119634800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr8:119633000-119634800	Active TSS	Brain Germinal Matrix	brain
9	chr8:119633000-119634800	Active TSS	Fetal Intestine Large	intestine
10	chr8:119633000-119634800	Active TSS	Gastric	stomach
11	chr8:119633000-119635000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:119633000-119635000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:119633000-119635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:119633200-119634800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:119633200-119634800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:119633200-119635000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:119633200-119635200	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr8:119633400-119634800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:119633400-119634800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr8:119633400-119634800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:119633400-119634800	Active TSS	Aorta	Aorta
22	chr8:119633400-119634800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:119633400-119635000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:119633400-119635000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:119633400-119635000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:119633400-119635000	Active TSS	Psoas Muscle	Psoas
27	chr8:119633400-119635200	Active TSS	Fetal Kidney	kidney
28	chr8:119633600-119634800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:119633600-119634800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:119633600-119634800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr8:119633600-119634800	Active TSS	A549	lung
32	chr8:119633600-119634800	Active TSS	HSMMtube	muscle
33	chr8:119633600-119635000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:119633600-119635000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:119633600-119635200	Active TSS	Brain Hippocampus Middle	brain
36	chr8:119633800-119634800	Active TSS	Primary T cells from cord blood	blood
37	chr8:119633800-119634800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr8:119633800-119634800	Flanking Active TSS	Placenta	Placenta
39	chr8:119633800-119634800	Active TSS	K562	blood
40	chr8:119633800-119635000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:119633800-119635000	Active TSS	Fetal Brain Male	brain
42	chr8:119633800-119635000	Active TSS	HMEC	breast
43	chr8:119634000-119634800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:119634000-119634800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:119634000-119634800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:119634000-119634800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:119634000-119634800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:119634000-119634800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:119634000-119635000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr8:119634000-119635000	Active TSS	Fetal Brain Female	brain

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