Variant report

Variant	rs183231794
Chromosome Location	chr1:212002972-212002973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr1:212002666-212003018	HepG2	liver:	n/a	n/a
2	E2F6	chr1:212002709-212003143	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr1:212002681-212003054	K562	blood:	n/a	n/a
4	MAX	chr1:212002688-212003068	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr1:212002968-212003440	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr1:212002925-212002989	GM12878	blood:	n/a	n/a
7	TEAD4	chr1:212002625-212003042	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA2	chr1:212002662-212003228	SH-SY5Y	brain:	n/a	n/a
9	TBP	chr1:212002768-212003101	K562	blood:	n/a	n/a
10	CEBPB	chr1:212002660-212003031	HepG2	liver:	n/a	n/a
11	REST	chr1:212002696-212003000	SK-N-SH	brain:	n/a	chr1:212002784-212002804 chr1:212002784-212002804
12	RAD21	chr1:212002254-212004585	SK-N-SH	brain:	n/a	chr1:212003385-212003394
13	REST	chr1:212002672-212003003	K562	blood:	n/a	chr1:212002784-212002804 chr1:212002784-212002804
14	TEAD4	chr1:212002488-212003093	HepG2	liver:	n/a	n/a
15	JUND	chr1:212002770-212003028	HepG2	liver:	n/a	n/a
16	RCOR1	chr1:212002488-212003014	K562	blood:	n/a	n/a
17	POLR2A	chr1:212002725-212003479	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr1:212002822-212003086	A549	lung:	n/a	n/a
19	JUND	chr1:212002720-212003023	K562	blood:	n/a	n/a
20	WRNIP1	chr1:212002693-212003120	GM12878	blood:	n/a	n/a
21	CEBPB	chr1:212002711-212002973	K562	blood:	n/a	n/a
22	HDAC2	chr1:212002557-212003044	HepG2	liver:	n/a	chr1:212002854-212002862
23	CEBPB	chr1:212002704-212003108	K562	blood:	n/a	n/a
24	POLR2A	chr1:212002818-212003015	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:212002643-212003091	A549	lung:	n/a	n/a
26	MAZ	chr1:212002157-212004773	IMR90	lung:	n/a	chr1:212003407-212003416
27	CEBPB	chr1:212002694-212003457	A549	lung:	n/a	n/a
28	ZNF263	chr1:212002491-212004292	HEK293-T-REx	kidney:	n/a	chr1:212002836-212002845
29	CEBPB	chr1:212002700-212003078	HepG2	liver:	n/a	n/a
30	MYC	chr1:212002614-212003258	A549	lung:	n/a	n/a
31	MAX	chr1:212002781-212003064	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMC3	chr1:212002335-212004768	SK-N-SH	brain:	n/a	n/a
33	MXI1	chr1:212002151-212004682	SK-N-SH	brain:	n/a	n/a
34	MAX	chr1:212002702-212003131	K562	blood:	n/a	n/a
35	CEBPB	chr1:212002711-212003077	IMR90	lung:	n/a	n/a
36	MYC	chr1:212002754-212004303	K562	blood:	n/a	chr1:212003407-212003416
37	CEBPB	chr1:212002694-212003061	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:212002726-212003192	HepG2	liver:	n/a	n/a
39	EBF1	chr1:212002736-212003020	GM12878	blood:	n/a	chr1:212002801-212002812 chr1:212002802-212002812
40	POLR2A	chr1:212002692-212003221	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr1:212002743-212003162	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:212002756-212002974	HepG2	liver:	n/a	n/a
43	SP1	chr1:212002563-212003013	A549	lung:	n/a	chr1:212002834-212002848
44	MYBL2	chr1:212002589-212003069	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:212002650-212003100	K562	blood:	n/a	n/a
46	RAD21	chr1:212002611-212003024	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:212002726-212004394	HepG2	liver:	n/a	n/a
48	MAX	chr1:212002731-212003073	K562	blood:	n/a	n/a
49	HDAC2	chr1:212002686-212003058	HepG2	liver:	n/a	chr1:212002854-212002862
50	CEBPB	chr1:212002692-212003085	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212002970-212003020	K562	blood:	n/a
2	chr1:212002970-212003020	SK-N-SH	brain:	n/a
3	chr1:212002970-212003020	AG09319	gingival:	n/a
4	chr1:212002970-212003020	SK-N-MC	brain:	n/a
5	chr1:212002970-212003020	HL-60	blood:	n/a
6	chr1:212002970-212003020	MCF-7	breast:	n/a
7	chr1:212002970-212003020	AG09309	skin:	n/a
8	chr1:212002970-212003020	NHBE	bronchial:	n/a
9	chr1:212002970-212003020	GM12892	blood:	n/a
10	chr1:212002970-212003020	Jurkat	blood:	n/a
11	chr1:212002970-212003020	Hepatocyte	liver:	n/a
12	chr1:212002970-212003020	IMR90	lung:	fetal
13	chr1:212002970-212003020	HEK293	kidney:	embryo
14	chr1:212002970-212003020	HRE	kidney:	n/a
15	chr1:212002970-212003020	AG04450	lung:	fetal
16	chr1:212002970-212003020	PANC-1	pancreas:	n/a
17	chr1:212002970-212003020	Caco-2	colon:	n/a
18	chr1:212002970-212003020	GM19239	blood:	n/a
19	chr1:212002970-212003020	PFSK-1	brain:	n/a
20	chr1:212002970-212003020	U87	brain:	n/a
21	chr1:212002970-212003020	HIPEpiC	eye:	n/a
22	chr1:212002970-212003020	HNPCEpiC	eye:	n/a
23	chr1:212002970-212003020	HepG2	liver:	n/a
24	chr1:212002970-212003020	HRCEpiC	kidney:	n/a
25	chr1:212002970-212003020	HCT-116	colon:	n/a
26	chr1:212002970-212003020	GM12878	blood:	n/a
27	chr1:212002970-212003020	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:212002970-212003020	MCF10A-Er-Src	breast:	n/a
29	chr1:212002970-212003020	H1-hESC	embryonic stem cell:	embryo
30	chr1:212002970-212003020	HRPEpiC	eye:	n/a
31	chr1:212002970-212003020	GM06990	blood:	n/a
32	chr1:212002970-212003020	HCF	heart:	n/a
33	chr1:212002970-212003020	NH-A	brain:	n/a
34	chr1:212002970-212003020	HCPEpiC	choroid plexus:	n/a
35	chr1:212002970-212003020	SAEC	small airway:	n/a
36	chr1:212002970-212003020	HCM	heart:	n/a
37	chr1:212002970-212003020	HEEpiC	esophagus:	n/a
38	chr1:212002970-212003020	BJ	skin:	n/a
39	chr1:212002970-212003020	NT2-D1	testis:	n/a
40	chr1:212002970-212003020	GM12891	blood:	n/a
41	chr1:212002970-212003020	NHDF-neo	bronchial:	n/a
42	chr1:212002970-212003020	LNCaP	prostate:	n/a
43	chr1:212002970-212003020	BE2_C	brain:	n/a
44	chr1:212002970-212003020	ovcar-3	ovarian:	n/a
45	chr1:212002970-212003020	SKMC	muscle:	n/a
46	chr1:212002970-212003020	ProgFib	skin:	n/a
47	chr1:212002970-212003020	ECC-1	luminal epithelium:	n/a
48	chr1:212002970-212003020	HUVEC	blood vessel:	n/a
49	chr1:212002970-212003020	AG10803	skin:	n/a
50	chr1:212002970-212003020	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229258	TF binding region
ENSG00000229258	CpG island
ENSG00000143493	Chromatin interaction
ENSG00000143476	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3325021	chr1:212002754-212005502	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211952200-212003000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211997800-212003000	Weak transcription	Esophagus	oesophagus
3	chr1:211997800-212003000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:211999400-212004400	Active TSS	Fetal Intestine Small	intestine
5	chr1:212000200-212004600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:212000800-212003000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:212000800-212003200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:212000800-212003400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:212000800-212004400	Active TSS	Brain Hippocampus Middle	brain
10	chr1:212001200-212004600	Active TSS	Brain Cingulate Gyrus	brain
11	chr1:212001200-212004800	Active TSS	Brain Angular Gyrus	brain
12	chr1:212001400-212003000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr1:212001600-212003000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:212001600-212004400	Active TSS	Brain Substantia Nigra	brain
15	chr1:212001600-212004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:212002000-212004600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:212002000-212004800	Active TSS	Right Atrium	heart
18	chr1:212002200-212003000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:212002200-212003000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:212002200-212003200	Flanking Active TSS	Fetal Brain Male	brain
21	chr1:212002200-212003400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:212002200-212003400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:212002400-212003000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr1:212002400-212003000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr1:212002400-212003000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:212002400-212003000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:212002400-212003000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:212002400-212003000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:212002400-212003200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr1:212002400-212003200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr1:212002400-212003200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr1:212002400-212003200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:212002400-212003200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:212002400-212003200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:212002400-212003200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr1:212002400-212003200	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr1:212002400-212003200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:212002400-212003200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:212002400-212003200	Flanking Active TSS	HMEC	breast
40	chr1:212002400-212003200	Flanking Active TSS	K562	blood
41	chr1:212002400-212003400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:212002400-212003400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:212002400-212003400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:212002400-212003400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:212002400-212003400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:212002400-212003400	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr1:212002400-212003400	Flanking Active TSS	Dnd41	blood
48	chr1:212002400-212003400	Flanking Active TSS	Hela-S3	cervix
49	chr1:212002400-212003400	Flanking Active TSS	HUVEC	blood vessel
50	chr1:212002400-212003800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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