Variant report

Variant	rs374308839
Chromosome Location	chr8:119634823-119634824
allele	G/T
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	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
3	POLR2A	chr8:119632798-119634952	GM12878	blood:	n/a	n/a
4	MAX	chr8:119632804-119634970	MCF-7	breast:	n/a	chr8:119633696-119633706 chr8:119634122-119634132
5	GTF2F1	chr8:119634495-119635064	Hela-S3	cervix:	n/a	n/a
6	SIN3A	chr8:119633376-119634896	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr8:119634418-119634926	GM12878	blood:	n/a	n/a
8	MAX	chr8:119634040-119635000	Hela-S3	cervix:	n/a	chr8:119634122-119634132
9	EBF1	chr8:119634645-119635002	GM12878	blood:	n/a	chr8:119634896-119634907
10	POLR2A	chr8:119633895-119635137	Raji	blood:	n/a	n/a
11	RUNX3	chr8:119634388-119634873	GM12878	blood:	n/a	n/a
12	HCFC1	chr8:119633557-119635458	Hela-S3	cervix:	n/a	n/a
13	EP300	chr8:119634707-119635036	GM12878	blood:	n/a	n/a
14	SMC3	chr8:119633846-119634973	Hela-S3	cervix:	n/a	chr8:119634638-119634648
15	CTCF	chr8:119634750-119634835	Lung_OC	lung:	n/a	n/a
16	ZKSCAN1	chr8:119634605-119634904	Hela-S3	cervix:	n/a	n/a
17	PML	chr8:119634416-119634899	GM12878	blood:	n/a	n/a
18	MAZ	chr8:119634025-119634992	Hela-S3	cervix:	n/a	chr8:119634122-119634132
19	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
20	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
21	EP300	chr8:119634725-119635013	GM12878	blood:	n/a	n/a
22	ZEB1	chr8:119634427-119634940	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:119634545-119634884	ProgFib	skin:	n/a	n/a
24	EBF1	chr8:119634500-119635105	GM12878	blood:	n/a	chr8:119634896-119634907
25	ZNF263	chr8:119633656-119634830	HEK293-T-REx	kidney:	n/a	chr8:119633938-119633959 chr8:119633904-119633925
26	CHD1	chr8:119634554-119635171	GM12878	blood:	n/a	chr8:119634634-119634644
27	MAX	chr8:119634422-119634879	ECC-1	luminal epithelium:	n/a	n/a
28	CHD2	chr8:119632938-119634983	GM12878	blood:	n/a	chr8:119634634-119634644
29	CHD2	chr8:119633834-119634978	Hela-S3	cervix:	n/a	chr8:119634634-119634644
30	WRNIP1	chr8:119634487-119635182	GM12878	blood:	n/a	n/a
31	BHLHE40	chr8:119633139-119634823	GM12878	blood:	n/a	chr8:119634206-119634222
32	ELF1	chr8:119633250-119634829	GM12878	blood:	n/a	chr8:119633545-119633557 chr8:119634209-119634221 chr8:119633314-119633325 chr8:119633548-119633560

Variant related genes	Relation type
SAMD12	TF binding region

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:113 , 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	chr8:119633000-119635000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:119633000-119635000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:119633000-119635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:119633200-119635000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:119633200-119635200	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr8:119633400-119635000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:119633400-119635000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:119633400-119635000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:119633400-119635000	Active TSS	Psoas Muscle	Psoas
13	chr8:119633400-119635200	Active TSS	Fetal Kidney	kidney
14	chr8:119633600-119635000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:119633600-119635000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:119633600-119635200	Active TSS	Brain Hippocampus Middle	brain
17	chr8:119633800-119635000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:119633800-119635000	Active TSS	Fetal Brain Male	brain
19	chr8:119633800-119635000	Active TSS	HMEC	breast
20	chr8:119634000-119635000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr8:119634000-119635000	Active TSS	Fetal Brain Female	brain
22	chr8:119634000-119635000	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr8:119634000-119635000	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr8:119634200-119635000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:119634200-119635400	Active TSS	Stomach Smooth Muscle	stomach
26	chr8:119634400-119635000	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr8:119634600-119635000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:119634600-119635000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:119634600-119635000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:119634600-119635000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr8:119634600-119635000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:119634600-119635000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr8:119634600-119635000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr8:119634600-119635000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr8:119634600-119635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:119634600-119635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:119634600-119635000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:119634600-119635000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr8:119634600-119635000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:119634600-119635000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:119634600-119635000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:119634600-119635000	Flanking Active TSS	Liver	Liver
43	chr8:119634600-119635000	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr8:119634600-119635000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr8:119634600-119635000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:119634600-119635000	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr8:119634600-119635000	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr8:119634600-119635000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr8:119634600-119635000	Flanking Active TSS	Esophagus	oesophagus
50	chr8:119634600-119635000	Flanking Active TSS	Fetal Heart	heart

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