Variant report

Variant	rs554619370
Chromosome Location	chr2:86564648-86564649
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	MAX	chr2:86564538-86564990	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:86564561-86564808	MCF-7	breast:	n/a	n/a
3	MXI1	chr2:86563461-86565056	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:86564559-86564853	HCT-116	colon:	n/a	n/a
5	TAF1	chr2:86564527-86565003	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr2:86564560-86564946	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr2:86564612-86564782	Gliobla	brain:	n/a	n/a
8	HA-E2F1	chr2:86564164-86565140	Hela-S3	cervix:	n/a	chr2:86564789-86564799 chr2:86564390-86564400 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564391-86564401 chr2:86564963-86564971 chr2:86564394-86564404 chr2:86564733-86564743 chr2:86564756-86564765 chr2:86564963-86564971
9	E2F1	chr2:86564184-86565170	Hela-S3	cervix:	n/a	chr2:86564789-86564799 chr2:86564390-86564400 chr2:86564964-86564971 chr2:86564962-86564972 chr2:86564391-86564401 chr2:86564963-86564971 chr2:86564394-86564404 chr2:86564733-86564743 chr2:86564770-86564785 chr2:86564756-86564765 chr2:86564963-86564971
10	POLR2A	chr2:86563062-86565332	H1-neurons	neurons:	n/a	n/a
11	SIN3A	chr2:86563706-86565367	H1-hESC	embryonic stem cell:	n/a	chr2:86564364-86564377 chr2:86565008-86565017
12	POLR2A	chr2:86563464-86565221	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr2:86564281-86564937	MCF-7	breast:	n/a	n/a
14	MYC	chr2:86564588-86564754	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:86564616-86564821	Hela-S3	cervix:	n/a	n/a
16	REST	chr2:86562875-86565396	H1-neurons	neurons:	n/a	chr2:86565007-86565017 chr2:86564371-86564381 chr2:86565005-86565019 chr2:86564247-86564256 chr2:86565017-86565030 chr2:86564904-86564917
17	MAX	chr2:86564561-86564993	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr2:86564571-86565111	ECC-1	luminal epithelium:	n/a	n/a
19	TAF1	chr2:86564555-86564830	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr2:86564542-86565087	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr2:86564634-86564875	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86564636-86564686	ProgFib	skin:	n/a
2	chr2:86564636-86564686	HCT-116	colon:	n/a
3	chr2:86564636-86564686	AG04449	skin:	fetal
4	chr2:86564636-86564686	AG04450	lung:	fetal
5	chr2:86564636-86564686	BJ	skin:	n/a
6	chr2:86564636-86564686	ovcar-3	ovarian:	n/a
7	chr2:86564636-86564686	GM19239	blood:	n/a
8	chr2:86564636-86564686	PFSK-1	brain:	n/a
9	chr2:86564636-86564686	HEEpiC	esophagus:	n/a
10	chr2:86564636-86564686	IMR90	lung:	fetal
11	chr2:86564636-86564686	H1-hESC	embryonic stem cell:	embryo
12	chr2:86564636-86564686	Hepatocyte	liver:	n/a
13	chr2:86564636-86564686	SAEC	small airway:	n/a
14	chr2:86564636-86564686	RPTEC	kidney:	n/a
15	chr2:86564636-86564686	AoSMC	blood vessel:	n/a
16	chr2:86564636-86564686	Hela-S3	cervix:	n/a
17	chr2:86564636-86564686	CMK	blood:	n/a
18	chr2:86564636-86564686	NT2-D1	testis:	n/a
19	chr2:86564636-86564686	SK-N-SH	brain:	n/a
20	chr2:86564636-86564686	PrEC	prostate:	n/a
21	chr2:86564636-86564686	SK-N-SH_RA	brain:	n/a
22	chr2:86564636-86564686	Caco-2	colon:	n/a
23	chr2:86564636-86564686	NB4	blood:	n/a
24	chr2:86564636-86564686	HIPEpiC	eye:	n/a
25	chr2:86564636-86564686	AG09309	skin:	n/a
26	chr2:86564636-86564686	K562	blood:	n/a
27	chr2:86564636-86564686	HNPCEpiC	eye:	n/a
28	chr2:86564636-86564686	HRCEpiC	kidney:	n/a
29	chr2:86564636-86564686	GM12892	blood:	n/a
30	chr2:86564636-86564686	HCM	heart:	n/a
31	chr2:86564636-86564686	MCF-7	breast:	n/a
32	chr2:86564636-86564686	NH-A	brain:	n/a
33	chr2:86564636-86564686	MCF10A-Er-Src	breast:	n/a
34	chr2:86564636-86564686	A549	lung:	n/a
35	chr2:86564636-86564686	U87	brain:	n/a
36	chr2:86564636-86564686	HMEC	breast:	n/a
37	chr2:86564636-86564686	HCPEpiC	choroid plexus:	n/a
38	chr2:86564636-86564686	HEK293	kidney:	embryo
39	chr2:86564636-86564686	HL-60	blood:	n/a
40	chr2:86564636-86564686	LNCaP	prostate:	n/a
41	chr2:86564636-86564686	HCF	heart:	n/a
42	chr2:86564636-86564686	GM12878	blood:	n/a
43	chr2:86564636-86564686	SKMC	muscle:	n/a
44	chr2:86564636-86564686	AG09319	gingival:	n/a
45	chr2:86564636-86564686	NHDF-neo	bronchial:	n/a
46	chr2:86564636-86564686	HAEpiC	amniotic membrane:	n/a
47	chr2:86564636-86564686	SK-N-MC	brain:	n/a
48	chr2:86564636-86564686	GM12891	blood:	n/a
49	chr2:86564636-86564686	PANC-1	pancreas:	n/a
50	chr2:86564636-86564686	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86422237..86423747-chr2:86562559..86564958,2	MCF-7	breast:

Variant related genes	Relation type
REEP1	TF binding region
REEP1	CpG island
ENSG00000273080	Chromatin interaction
ENSG00000132305	Chromatin interaction

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	esv3357801	chr2:86563266-86566214	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3448068	chr2:86563641-86565889	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86562400-86565000	Active TSS	Fetal Brain Female	brain
2	chr2:86563000-86565200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:86563000-86565600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:86563200-86565000	Active TSS	Brain Anterior Caudate	brain
5	chr2:86563400-86565600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:86563400-86565600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:86563600-86565200	Active TSS	Right Atrium	heart
8	chr2:86563600-86565200	Bivalent/Poised TSS	HSMM	muscle
9	chr2:86563600-86565400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr2:86563600-86565600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:86563600-86565600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:86563600-86565600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:86563800-86565000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:86563800-86565000	Active TSS	Left Ventricle	heart
15	chr2:86563800-86565000	Active TSS	HSMMtube	muscle
16	chr2:86563800-86565200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:86563800-86565200	Active TSS	Aorta	Aorta
18	chr2:86563800-86565400	Bivalent/Poised TSS	Thymus	Thymus
19	chr2:86564000-86564800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:86564000-86565000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr2:86564000-86565000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:86564000-86565000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:86564000-86565000	Active TSS	Brain Angular Gyrus	brain
24	chr2:86564000-86565000	Active TSS	Brain Germinal Matrix	brain
25	chr2:86564000-86565000	Active TSS	Pancreas	Pancrea
26	chr2:86564000-86565000	Active TSS	Psoas Muscle	Psoas
27	chr2:86564000-86565000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr2:86564000-86565000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:86564000-86565200	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:86564000-86565200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr2:86564000-86565200	Active TSS	Gastric	stomach
32	chr2:86564000-86565200	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:86564000-86565400	Active TSS	Right Ventricle	heart
34	chr2:86564000-86565600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr2:86564000-86565600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr2:86564200-86564800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:86564200-86564800	Active TSS	Stomach Smooth Muscle	stomach
38	chr2:86564200-86564800	Active TSS	A549	lung
39	chr2:86564200-86565000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:86564200-86565000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:86564200-86565000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr2:86564200-86565000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:86564200-86565000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:86564200-86565000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:86564200-86565000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:86564200-86565000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:86564200-86565000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chr2:86564200-86565000	Active TSS	Brain Hippocampus Middle	brain
49	chr2:86564200-86565000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:86564200-86565000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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