Variant report

Variant	rs528154062
Chromosome Location	chr8:65492585-65492586
allele	C/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	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	POLR2A	chr8:65492069-65493027	GM12891	blood:	n/a	n/a
12	POLR2A	chr8:65492175-65493821	GM10847	blood:	n/a	n/a
13	TBL1XR1	chr8:65492283-65492964	GM12878	blood:	n/a	n/a
14	EBF1	chr8:65491967-65492899	GM12878	blood:	n/a	n/a
15	MAZ	chr8:65492077-65493148	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
17	SUZ12	chr8:65492486-65494683	H1-hESC	embryonic stem cell:	n/a	n/a
18	RELA	chr8:65491732-65493118	GM18951	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
19	RCOR1	chr8:65491812-65493125	GM12878	blood:	n/a	n/a
20	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
21	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
22	RELA	chr8:65492125-65492971	GM12878	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
23	BHLHE40	chr8:65492277-65493010	GM12878	blood:	n/a	n/a
24	WRNIP1	chr8:65492574-65492984	GM12878	blood:	n/a	n/a
25	TAF1	chr8:65492546-65492821	GM12891	blood:	n/a	n/a
26	POLR2A	chr8:65491503-65495107	SK-N-MC	brain:	n/a	n/a
27	ZNF143	chr8:65492133-65493158	GM12878	blood:	n/a	chr8:65492466-65492484
28	POLR2A	chr8:65491730-65494687	GM12892	blood:	n/a	n/a
29	POLR2A	chr8:65491561-65494758	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:65491737-65494740	GM18505	blood:	n/a	n/a
31	POLR2A	chr8:65490914-65493622	H1-neurons	neurons:	n/a	n/a
32	RELA	chr8:65491907-65492961	GM19193	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
33	POLR2A	chr8:65491568-65493291	GM12891	blood:	n/a	n/a
34	POLR2A	chr8:65491547-65493101	GM12878	blood:	n/a	n/a
35	RELA	chr8:65491427-65492957	GM19099	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
36	CHD1	chr8:65491785-65495139	GM12878	blood:	n/a	chr8:65492726-65492733
37	POLR2A	chr8:65491636-65493119	GM12891	blood:	n/a	n/a
38	POLR2A	chr8:65491520-65493185	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr8:65492060-65492969	GM12891	blood:	n/a	n/a
40	POLR2A	chr8:65492023-65493005	GM12892	blood:	n/a	n/a
41	RELA	chr8:65491778-65493114	GM15510	blood:	n/a	chr8:65492356-65492365 chr8:65492356-65492365
42	POU2F2	chr8:65492099-65492859	GM12891	blood:	n/a	n/a
43	BCLAF1	chr8:65492480-65492824	GM12878	blood:	n/a	chr8:65492769-65492778
44	SIN3A	chr8:65492234-65492884	GM12878	blood:	n/a	n/a
45	EP300	chr8:65491833-65492908	GM12878	blood:	n/a	chr8:65492202-65492216
46	MXI1	chr8:65491806-65492958	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
48	POLR2A	chr8:65489464-65493494	GM12891	blood:	n/a	n/a
49	POLR2A	chr8:65491759-65495195	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:65491319-65495630	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65492570-65492620	AG09319	gingival:	n/a
2	chr8:65492570-65492620	IMR90	lung:	fetal
3	chr8:65492570-65492620	NHDF-neo	bronchial:	n/a
4	chr8:65492570-65492620	U87	brain:	n/a
5	chr8:65492570-65492620	GM12878	blood:	n/a
6	chr8:65492570-65492620	HRE	kidney:	n/a
7	chr8:65492570-65492620	NT2-D1	testis:	n/a
8	chr8:65492570-65492620	GM12892	blood:	n/a
9	chr8:65492570-65492620	GM19239	blood:	n/a
10	chr8:65492570-65492620	A549	lung:	n/a
11	chr8:65492570-65492620	H1-hESC	embryonic stem cell:	embryo
12	chr8:65492570-65492620	HCT-116	colon:	n/a
13	chr8:65492570-65492620	NH-A	brain:	n/a
14	chr8:65492570-65492620	Hepatocyte	liver:	n/a
15	chr8:65492570-65492620	HCF	heart:	n/a
16	chr8:65492570-65492620	SK-N-MC	brain:	n/a
17	chr8:65492570-65492620	HCM	heart:	n/a
18	chr8:65492570-65492620	ProgFib	skin:	n/a
19	chr8:65492570-65492620	AG09309	skin:	n/a
20	chr8:65492570-65492620	AG10803	skin:	n/a
21	chr8:65492570-65492620	NB4	blood:	n/a
22	chr8:65492570-65492620	HIPEpiC	eye:	n/a
23	chr8:65492570-65492620	HMEC	breast:	n/a
24	chr8:65492570-65492620	AG04449	skin:	fetal
25	chr8:65492570-65492620	HEEpiC	esophagus:	n/a
26	chr8:65492570-65492620	BJ	skin:	n/a
27	chr8:65492570-65492620	LNCaP	prostate:	n/a
28	chr8:65492570-65492620	GM06990	blood:	n/a
29	chr8:65492570-65492620	T-47D	breast:	n/a
30	chr8:65492570-65492620	SK-N-SH	brain:	n/a
31	chr8:65492570-65492620	HRCEpiC	kidney:	n/a
32	chr8:65492570-65492620	PFSK-1	brain:	n/a
33	chr8:65492570-65492620	RPTEC	kidney:	n/a
34	chr8:65492570-65492620	Caco-2	colon:	n/a
35	chr8:65492570-65492620	HCPEpiC	choroid plexus:	n/a
36	chr8:65492570-65492620	HAEpiC	amniotic membrane:	n/a
37	chr8:65492570-65492620	MCF-7	breast:	n/a
38	chr8:65492570-65492620	SAEC	small airway:	n/a
39	chr8:65492570-65492620	BE2_C	brain:	n/a
40	chr8:65492570-65492620	Hela-S3	cervix:	n/a
41	chr8:65492570-65492620	HEK293	kidney:	embryo
42	chr8:65492570-65492620	HNPCEpiC	eye:	n/a
43	chr8:65492570-65492620	HPAEpiC	pulmonary alveolar:	n/a
44	chr8:65492570-65492620	GM12891	blood:	n/a
45	chr8:65492570-65492620	CMK	blood:	n/a
46	chr8:65492570-65492620	HUVEC	blood vessel:	n/a
47	chr8:65492570-65492620	HepG2	liver:	n/a
48	chr8:65492570-65492620	K562	blood:	n/a
49	chr8:65492570-65492620	SKMC	muscle:	n/a
50	chr8:65492570-65492620	PrEC	prostate:	n/a

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

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
2	chr8:65490400-65492600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr8:65490800-65492800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:65490800-65495000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr8:65491600-65492600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:65491600-65493000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
7	chr8:65491600-65494400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr8:65491800-65492600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:65491800-65492600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr8:65491800-65492600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr8:65491800-65492600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr8:65491800-65492600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr8:65491800-65492600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr8:65491800-65492800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:65491800-65493000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr8:65491800-65493000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:65491800-65494600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:65491800-65496000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr8:65492000-65492600	Bivalent Enhancer	NHEK	skin
20	chr8:65492000-65492800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:65492000-65492800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
22	chr8:65492000-65493000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:65492200-65492600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr8:65492200-65492600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
25	chr8:65492200-65492600	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr8:65492200-65492600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:65492200-65492600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:65492200-65492600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr8:65492200-65492600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr8:65492200-65492600	Bivalent Enhancer	Fetal Brain Male	brain
31	chr8:65492200-65492600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:65492200-65492600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr8:65492200-65492600	Enhancers	Pancreas	Pancrea
34	chr8:65492200-65492800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:65492200-65492800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:65492200-65492800	Bivalent Enhancer	Fetal Stomach	stomach
37	chr8:65492200-65493000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr8:65492200-65493000	Bivalent/Poised TSS	Right Ventricle	heart
39	chr8:65492200-65493000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr8:65492200-65493200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr8:65492200-65493200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr8:65492200-65493200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:65492200-65493200	Bivalent Enhancer	Fetal Lung	lung
44	chr8:65492200-65493200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr8:65492200-65494800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:65492200-65494800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr8:65492200-65494800	Active TSS	Right Atrium	heart
48	chr8:65492200-65495200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:65492400-65492600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr8:65492400-65492600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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