Variant report

Variant	rs76162628
Chromosome Location	chr2:54951349-54951350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr2:54949181-54951799	IMR90	lung:	n/a	chr2:54950701-54950716
2	ZNF263	chr2:54950020-54951506	HEK293-T-REx	kidney:	n/a	n/a
3	KAP1	chr2:54949980-54951649	HEK293	kidney:	n/a	chr2:54951554-54951562
4	SMARCC1	chr2:54949807-54951484	Hela-S3	cervix:	n/a	chr2:54950598-54950607
5	MTA3	chr2:54949926-54951464	GM12878	blood:	n/a	n/a
6	BACH1	chr2:54950247-54951369	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:54950144-54951461	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr2:54949717-54952029	Raji	blood:	n/a	n/a
9	MYC	chr2:54951143-54951472	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr2:54950029-54951996	A549	lung:	n/a	n/a
11	MXI1	chr2:54949356-54954156	SK-N-SH	brain:	n/a	chr2:54949674-54949689
12	MYBL2	chr2:54949779-54951665	HepG2	liver:	n/a	n/a
13	MYC	chr2:54949962-54951447	NB4	blood:	n/a	n/a
14	HA-E2F1	chr2:54949666-54952092	MCF-7	breast:	n/a	chr2:54952002-54952012 chr2:54949703-54949712 chr2:54952005-54952015 chr2:54952022-54952032 chr2:54950557-54950572
15	SIN3AK20	chr2:54950177-54951437	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr2:54949953-54951587	A549	lung:	n/a	n/a
17	E2F6	chr2:54950106-54951885	A549	lung:	n/a	chr2:54950402-54950413 chr2:54950557-54950572
18	CTCF	chr2:54951280-54951430	BJ	skin:	n/a	n/a
19	RAD21	chr2:54950344-54951351	SK-N-SH_RA	brain:	n/a	n/a
20	RFX5	chr2:54949786-54952096	SK-N-SH	brain:	n/a	chr2:54950701-54950716
21	CTCF	chr2:54951280-54951430	A549	lung:	n/a	n/a
22	MAX	chr2:54950085-54951433	SK-N-SH	brain:	n/a	n/a
23	MAX	chr2:54950045-54951483	NB4	blood:	n/a	n/a
24	POLR2A	chr2:54950215-54951493	H1-neurons	neurons:	n/a	n/a
25	REST	chr2:54950280-54951570	H1-neurons	neurons:	n/a	chr2:54950402-54950412
26	SIN3A	chr2:54950023-54952434	H1-hESC	embryonic stem cell:	n/a	chr2:54950992-54951003
27	SMC3	chr2:54949772-54951580	Hela-S3	cervix:	n/a	chr2:54950012-54950019
28	HDAC2	chr2:54949985-54951479	HepG2	liver:	n/a	n/a
29	HCFC1	chr2:54949547-54951672	Hela-S3	cervix:	n/a	n/a
30	UBTF	chr2:54950359-54951404	K562	blood:	n/a	n/a
31	MAX	chr2:54949795-54952040	A549	lung:	n/a	n/a
32	MXI1	chr2:54949594-54952119	IMR90	lung:	n/a	chr2:54949674-54949689
33	POLR2A	chr2:54950233-54952385	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr2:54949765-54951371	Hela-S3	cervix:	n/a	n/a
35	SMARCC2	chr2:54949632-54951383	Hela-S3	cervix:	n/a	chr2:54950598-54950607
36	MAZ	chr2:54950218-54951387	Hela-S3	cervix:	n/a	n/a
37	JUND	chr2:54950386-54951460	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54951307-54951357	LNCaP	prostate:	n/a
2	chr2:54951307-54951357	SAEC	small airway:	n/a
3	chr2:54951307-54951357	HEK293	kidney:	embryo
4	chr2:54951307-54951357	AG04449	skin:	fetal
5	chr2:54951307-54951357	GM12892	blood:	n/a
6	chr2:54951307-54951357	SK-N-SH_RA	brain:	n/a
7	chr2:54951307-54951357	NHBE	bronchial:	n/a
8	chr2:54951307-54951357	IMR90	lung:	fetal
9	chr2:54951307-54951357	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:54951307-54951357	H1-hESC	embryonic stem cell:	embryo
11	chr2:54951307-54951357	PrEC	prostate:	n/a
12	chr2:54951307-54951357	AG04450	lung:	fetal
13	chr2:54951307-54951357	GM12891	blood:	n/a
14	chr2:54951307-54951357	PFSK-1	brain:	n/a
15	chr2:54951307-54951357	NH-A	brain:	n/a
16	chr2:54951307-54951357	SK-N-MC	brain:	n/a
17	chr2:54951307-54951357	HL-60	blood:	n/a
18	chr2:54951307-54951357	AG09319	gingival:	n/a
19	chr2:54951307-54951357	A549	lung:	n/a
20	chr2:54951307-54951357	ProgFib	skin:	n/a
21	chr2:54951307-54951357	GM06990	blood:	n/a
22	chr2:54951307-54951357	T-47D	breast:	n/a
23	chr2:54951307-54951357	HRPEpiC	eye:	n/a
24	chr2:54951307-54951357	NT2-D1	testis:	n/a
25	chr2:54951307-54951357	NB4	blood:	n/a
26	chr2:54951307-54951357	PANC-1	pancreas:	n/a
27	chr2:54951307-54951357	HRCEpiC	kidney:	n/a
28	chr2:54951307-54951357	HIPEpiC	eye:	n/a
29	chr2:54951307-54951357	HepG2	liver:	n/a
30	chr2:54951307-54951357	HCPEpiC	choroid plexus:	n/a
31	chr2:54951307-54951357	AG10803	skin:	n/a
32	chr2:54951307-54951357	NHDF-neo	bronchial:	n/a
33	chr2:54951307-54951357	Hela-S3	cervix:	n/a
34	chr2:54951307-54951357	SK-N-SH	brain:	n/a
35	chr2:54951307-54951357	ECC-1	luminal epithelium:	n/a
36	chr2:54951307-54951357	HCT-116	colon:	n/a
37	chr2:54951307-54951357	SKMC	muscle:	n/a
38	chr2:54951307-54951357	MCF10A-Er-Src	breast:	n/a
39	chr2:54951307-54951357	HCF	heart:	n/a
40	chr2:54951307-54951357	RPTEC	kidney:	n/a
41	chr2:54951307-54951357	HEEpiC	esophagus:	n/a
42	chr2:54951307-54951357	K562	blood:	n/a
43	chr2:54951307-54951357	MCF-7	breast:	n/a
44	chr2:54951307-54951357	CMK	blood:	n/a
45	chr2:54951307-54951357	GM19239	blood:	n/a
46	chr2:54951307-54951357	GM12878	blood:	n/a
47	chr2:54951307-54951357	ovcar-3	ovarian:	n/a
48	chr2:54951307-54951357	Jurkat	blood:	n/a
49	chr2:54951307-54951357	HRE	kidney:	n/a
50	chr2:54951307-54951357	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
EML6	TF binding region
EML6	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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3362527	chr2:54951248-54953146	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54949600-54951400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:54949800-54951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54949800-54951800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54949800-54952600	Active TSS	Psoas Muscle	Psoas
5	chr2:54949800-54952800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:54950000-54952000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:54950000-54952000	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr2:54950000-54952200	Active TSS	Esophagus	oesophagus
9	chr2:54950000-54952200	Active TSS	Gastric	stomach
10	chr2:54950000-54952200	Active TSS	Left Ventricle	heart
11	chr2:54950000-54952200	Active TSS	Lung	lung
12	chr2:54950000-54952400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54950000-54952400	Active TSS	Aorta	Aorta
14	chr2:54950000-54952600	Active TSS	Right Atrium	heart
15	chr2:54950000-54952600	Active TSS	Right Ventricle	heart
16	chr2:54950000-54953400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:54950200-54951400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:54950200-54951400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:54950200-54951400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:54950200-54951600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54950200-54952000	Active TSS	Small Intestine	intestine
22	chr2:54950200-54952200	Active TSS	Pancreas	Pancrea
23	chr2:54950200-54952200	Active TSS	Spleen	Spleen
24	chr2:54950200-54952400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:54950200-54952400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:54950200-54952400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:54950200-54952400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:54950200-54952400	Active TSS	Brain Anterior Caudate	brain
29	chr2:54950200-54952400	Active TSS	Ovary	ovary
30	chr2:54950200-54952400	Active TSS	NHDF-Ad	bronchial
31	chr2:54950200-54952600	Active TSS	Brain Hippocampus Middle	brain
32	chr2:54950200-54952600	Active TSS	Brain Substantia Nigra	brain
33	chr2:54950200-54952600	Active TSS	NHLF	lung
34	chr2:54950200-54953200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:54950200-54953400	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:54950200-54953600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
38	chr2:54950400-54951400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:54950400-54951800	Active TSS	Fetal Brain Male	brain
40	chr2:54950400-54954000	Active TSS	Fetal Brain Female	brain
41	chr2:54950600-54952200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:54950800-54951400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:54950800-54951600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:54950800-54952800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:54950800-54953000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:54951000-54951400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:54951000-54951400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:54951000-54951400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:54951000-54951400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:54951000-54951400	Flanking Active TSS	Colonic Mucosa	Colon

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