Variant report

Variant	rs182034675
Chromosome Location	chr8:65492689-65492690
allele	A/G
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	YY1	chr8:65492494-65492811	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:65491671-65494766	GM15510	blood:	n/a	n/a
3	POLR2A	chr8:65492021-65492812	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:65491654-65494727	GM12892	blood:	n/a	n/a
5	IKZF1	chr8:65491659-65492729	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:65491980-65492945	GM12892	blood:	n/a	n/a
7	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
8	CHD2	chr8:65492149-65493115	GM12878	blood:	n/a	chr8:65492726-65492733
9	POLR2A	chr8:65492126-65493612	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:65491681-65494603	GM18526	blood:	n/a	n/a
11	MAX	chr8:65492616-65493122	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:65492069-65493027	GM12891	blood:	n/a	n/a
13	POLR2A	chr8:65492175-65493821	GM10847	blood:	n/a	n/a
14	RFX5	chr8:65492666-65493041	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr8:65492283-65492964	GM12878	blood:	n/a	n/a
16	EBF1	chr8:65491967-65492899	GM12878	blood:	n/a	n/a
17	MAZ	chr8:65492077-65493148	GM12878	blood:	n/a	n/a
18	SMC3	chr8:65492633-65492724	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
20	SUZ12	chr8:65492486-65494683	H1-hESC	embryonic stem cell:	n/a	n/a
21	RELA	chr8:65491732-65493118	GM18951	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
22	RCOR1	chr8:65491812-65493125	GM12878	blood:	n/a	n/a
23	POU2F2	chr8:65491708-65492943	GM12878	blood:	n/a	chr8:65491944-65491957 chr8:65491944-65491957 chr8:65491945-65491959 chr8:65491942-65491964 chr8:65491944-65491957 chr8:65491943-65491964
24	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
25	RELA	chr8:65492125-65492971	GM12878	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
26	BHLHE40	chr8:65492277-65493010	GM12878	blood:	n/a	n/a
27	WRNIP1	chr8:65492574-65492984	GM12878	blood:	n/a	n/a
28	TAF1	chr8:65492546-65492821	GM12891	blood:	n/a	n/a
29	POLR2A	chr8:65491503-65495107	SK-N-MC	brain:	n/a	n/a
30	ZNF143	chr8:65492133-65493158	GM12878	blood:	n/a	chr8:65492466-65492484
31	POLR2A	chr8:65492670-65492776	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:65491730-65494687	GM12892	blood:	n/a	n/a
33	POLR2A	chr8:65491561-65494758	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:65491737-65494740	GM18505	blood:	n/a	n/a
35	POLR2A	chr8:65490914-65493622	H1-neurons	neurons:	n/a	n/a
36	RELA	chr8:65491907-65492961	GM19193	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
37	POLR2A	chr8:65491568-65493291	GM12891	blood:	n/a	n/a
38	POLR2A	chr8:65491547-65493101	GM12878	blood:	n/a	n/a
39	RELA	chr8:65491427-65492957	GM19099	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
40	CHD1	chr8:65491785-65495139	GM12878	blood:	n/a	chr8:65492726-65492733
41	POLR2A	chr8:65491636-65493119	GM12891	blood:	n/a	n/a
42	POLR2A	chr8:65491520-65493185	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr8:65492060-65492969	GM12891	blood:	n/a	n/a
44	POLR2A	chr8:65492023-65493005	GM12892	blood:	n/a	n/a
45	RELA	chr8:65491778-65493114	GM15510	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
46	CUX1	chr8:65492624-65492952	GM12878	blood:	n/a	n/a
47	POU2F2	chr8:65492099-65492859	GM12891	blood:	n/a	n/a
48	BCLAF1	chr8:65492480-65492824	GM12878	blood:	n/a	chr8:65492769-65492778
49	SIN3A	chr8:65492234-65492884	GM12878	blood:	n/a	n/a
50	EP300	chr8:65491833-65492908	GM12878	blood:	n/a	chr8:65492202-65492216

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65492666-65492716	HL-60	blood:	n/a
2	chr8:65492683-65492733	AoSMC	blood vessel:	n/a
3	chr8:65492683-65492733	ProgFib	skin:	n/a
4	chr8:65492683-65492733	HRCEpiC	kidney:	n/a
5	chr8:65492683-65492733	K562	blood:	n/a
6	chr8:65492683-65492733	HIPEpiC	eye:	n/a
7	chr8:65492683-65492733	SK-N-SH_RA	brain:	n/a
8	chr8:65492666-65492716	T-47D	breast:	n/a
9	chr8:65492683-65492733	RPTEC	kidney:	n/a
10	chr8:65492666-65492716	H1-hESC	embryonic stem cell:	embryo
11	chr8:65492666-65492716	NH-A	brain:	n/a
12	chr8:65492666-65492716	PFSK-1	brain:	n/a
13	chr8:65492683-65492733	PANC-1	pancreas:	n/a
14	chr8:65492683-65492733	GM12878	blood:	n/a
15	chr8:65492666-65492716	HCPEpiC	choroid plexus:	n/a
16	chr8:65492683-65492733	AG04449	skin:	fetal
17	chr8:65492683-65492733	SAEC	small airway:	n/a
18	chr8:65492683-65492733	GM06990	blood:	n/a
19	chr8:65492666-65492716	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:65492683-65492733	AG10803	skin:	n/a
21	chr8:65492683-65492733	NT2-D1	testis:	n/a
22	chr8:65492666-65492716	ProgFib	skin:	n/a
23	chr8:65492683-65492733	AG09309	skin:	n/a
24	chr8:65492683-65492733	PFSK-1	brain:	n/a
25	chr8:65492683-65492733	Hela-S3	cervix:	n/a
26	chr8:65492666-65492716	Hela-S3	cervix:	n/a
27	chr8:65492666-65492716	MCF10A-Er-Src	breast:	n/a
28	chr8:65492666-65492716	BJ	skin:	n/a
29	chr8:65492683-65492733	T-47D	breast:	n/a
30	chr8:65492666-65492716	MCF-7	breast:	n/a
31	chr8:65492683-65492733	PrEC	prostate:	n/a
32	chr8:65492683-65492733	HNPCEpiC	eye:	n/a
33	chr8:65492666-65492716	HNPCEpiC	eye:	n/a
34	chr8:65492666-65492716	NB4	blood:	n/a
35	chr8:65492683-65492733	U87	brain:	n/a
36	chr8:65492683-65492733	NHBE	bronchial:	n/a
37	chr8:65492683-65492733	HMEC	breast:	n/a
38	chr8:65492666-65492716	GM06990	blood:	n/a
39	chr8:65492683-65492733	SKMC	muscle:	n/a
40	chr8:65492666-65492716	HRPEpiC	eye:	n/a
41	chr8:65492666-65492716	SK-N-SH_RA	brain:	n/a
42	chr8:65492683-65492733	HAEpiC	amniotic membrane:	n/a
43	chr8:65492683-65492733	SK-N-MC	brain:	n/a
44	chr8:65492666-65492716	AoSMC	blood vessel:	n/a
45	chr8:65492683-65492733	ovcar-3	ovarian:	n/a
46	chr8:65492683-65492733	HEK293	kidney:	embryo
47	chr8:65492666-65492716	HepG2	liver:	n/a
48	chr8:65492666-65492716	NHDF-neo	bronchial:	n/a
49	chr8:65492666-65492716	HCT-116	colon:	n/a
50	chr8:65492666-65492716	BE2_C	brain:	n/a

Variant related genes	Relation type
BHLHE22	TF binding region
ENSG00000254102	TF binding region
ENSG00000254102	CpG island
BHLHE22	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv972538	chr8:65489860-65495278	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
3	esv3375828	chr8:65492023-65494771	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	esv3401021	chr8:65492623-65495371	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
2	chr8:65490800-65492800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:65490800-65495000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:65491600-65493000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
5	chr8:65491600-65494400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr8:65491800-65492800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:65491800-65493000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr8:65491800-65493000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:65491800-65494600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:65491800-65496000	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr8:65492000-65492800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:65492000-65492800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr8:65492000-65493000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:65492200-65492800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:65492200-65492800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:65492200-65492800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr8:65492200-65493000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr8:65492200-65493000	Bivalent/Poised TSS	Right Ventricle	heart
19	chr8:65492200-65493000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr8:65492200-65493200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr8:65492200-65493200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr8:65492200-65493200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:65492200-65493200	Bivalent Enhancer	Fetal Lung	lung
24	chr8:65492200-65493200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
25	chr8:65492200-65494800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:65492200-65494800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr8:65492200-65494800	Active TSS	Right Atrium	heart
28	chr8:65492200-65495200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:65492400-65492800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:65492400-65492800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:65492400-65492800	Bivalent Enhancer	Fetal Thymus	thymus
32	chr8:65492400-65493000	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr8:65492400-65493200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr8:65492400-65493400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:65492400-65493400	Active TSS	Adipose Nuclei	Adipose
36	chr8:65492400-65493600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:65492400-65493800	Bivalent/Poised TSS	Psoas Muscle	Psoas
38	chr8:65492400-65494200	Active TSS	Brain Substantia Nigra	brain
39	chr8:65492400-65494200	Bivalent/Poised TSS	A549	lung
40	chr8:65492400-65494200	Active TSS	GM12878-XiMat	blood
41	chr8:65492400-65494400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr8:65492600-65492800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr8:65492600-65492800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr8:65492600-65492800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:65492600-65492800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:65492600-65492800	Bivalent Enhancer	Primary T cells from cord blood	blood
47	chr8:65492600-65492800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
48	chr8:65492600-65492800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:65492600-65492800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr8:65492600-65492800	Bivalent Enhancer	Fetal Intestine Large	intestine

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