Variant report

Variant	rs546633951
Chromosome Location	chr2:54197943-54197944
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr2:54197809-54198588	K562	blood:	n/a	n/a
2	TAF1	chr2:54197941-54198524	HepG2	liver:	n/a	n/a
3	MAX	chr2:54197854-54198592	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:54197686-54198623	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:54195426-54199062	MCF10A-Er-Src	breast:	n/a	n/a
6	CCNT2	chr2:54197273-54198550	K562	blood:	n/a	chr2:54197374-54197383
7	SP1	chr2:54197882-54198539	A549	lung:	n/a	n/a
8	POLR2A	chr2:54197845-54198687	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr2:54197906-54198697	K562	blood:	n/a	n/a
10	ZBTB7A	chr2:54197589-54198547	K562	blood:	n/a	n/a
11	POLR2A	chr2:54196963-54198609	GM18505	blood:	n/a	n/a
12	POLR2A	chr2:54197807-54198620	PANC-1	pancreas:	n/a	n/a
13	MAX	chr2:54197910-54198694	NB4	blood:	n/a	n/a
14	MYC	chr2:54197930-54198525	MCF-7	breast:	n/a	n/a
15	SIN3A	chr2:54196870-54198934	H1-hESC	embryonic stem cell:	n/a	chr2:54197564-54197573
16	POLR2A	chr2:54197936-54198575	GM12891	blood:	n/a	n/a
17	YY1	chr2:54197647-54198553	K562	blood:	n/a	n/a
18	MAX	chr2:54197529-54198535	K562	blood:	n/a	n/a
19	POLR2A	chr2:54197216-54198783	NB4	blood:	n/a	n/a
20	POLR2A	chr2:54197866-54198532	K562	blood:	n/a	n/a
21	GABPA	chr2:54197914-54198571	SK-N-SH	brain:	n/a	n/a
22	HEY1	chr2:54197829-54199069	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:54197116-54198687	HUVEC	blood vessel:	n/a	n/a
24	MAZ	chr2:54197384-54198464	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:54197346-54198630	MCF-7	breast:	n/a	n/a
26	MXI1	chr2:54196383-54198843	HepG2	liver:	n/a	n/a
27	TCF12	chr2:54197905-54198726	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr2:54197813-54198673	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr2:54197314-54198541	HL-60	blood:	n/a	n/a
30	TAF1	chr2:54197493-54198581	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr2:54197072-54198827	Raji	blood:	n/a	n/a
32	MAX	chr2:54197189-54198967	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:54197080-54198599	GM19193	blood:	n/a	n/a
34	POLR2A	chr2:54197274-54198584	GM18526	blood:	n/a	n/a
35	ELF1	chr2:54197929-54198539	K562	blood:	n/a	chr2:54198201-54198214
36	YY1	chr2:54197704-54198866	SK-N-SH	brain:	n/a	chr2:54198627-54198649 chr2:54198627-54198637
37	POLR2A	chr2:54197046-54198617	K562	blood:	n/a	n/a
38	MAX	chr2:54197103-54198883	A549	lung:	n/a	n/a
39	POLR2A	chr2:54197722-54198733	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr2:54197716-54198579	GM12892	blood:	n/a	n/a
41	TAF1	chr2:54197940-54198643	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr2:54196917-54198597	K562	blood:	n/a	n/a
43	POLR2A	chr2:54197770-54198562	GM12878	blood:	n/a	n/a
44	CHD2	chr2:54197678-54198457	Hela-S3	cervix:	n/a	n/a
45	PML	chr2:54197849-54198520	K562	blood:	n/a	n/a
46	SMARCB1	chr2:54197167-54198570	Hela-S3	cervix:	n/a	n/a
47	HEY1	chr2:54197070-54198885	K562	blood:	n/a	n/a
48	MYC	chr2:54196468-54198557	K562	blood:	n/a	chr2:54196587-54196596
49	POLR2A	chr2:54197943-54198509	A549	lung:	n/a	n/a
50	POLR2A	chr2:54197817-54198602	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54197639..54198211-chr20:47895138..47896080,2	Hela-S3	cervix:
2	chr2:54197470..54198185-chr7:5569820..5570406,2	Hela-S3	cervix:
3	chr2:54174064..54177025-chr2:54196606..54198334,2	K562	blood:
4	chr1:154377822..154378480-chr2:54197817..54198522,2	HCT-116	colon:
5	chr17:7387527..7388173-chr2:54197783..54198746,2	Hela-S3	cervix:
6	chr2:54195792..54198215-chr2:55457941..55460893,2	K562	blood:
7	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
8	chr2:54197301..54199396-chr2:54783418..54785695,2	MCF-7	breast:
9	chr2:54014148..54016031-chr2:54196984..54199909,2	MCF-7	breast:
10	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
11	chr2:54196421..54198197-chr2:55274517..55277399,2	MCF-7	breast:
12	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
13	chr2:54197595..54198318-chr8:29207753..29208664,2	HCT-116	colon:
14	chr17:62222840..62223549-chr2:54197639..54198401,2	HCT-116	colon:
15	chr2:54197865..54198700-chr2:85581464..85582262,2	Hela-S3	cervix:
16	chr14:70078032..70078862-chr2:54197449..54198389,2	Hela-S3	cervix:
17	chr2:54197521..54198204-chr5:132361698..132362506,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ACYP2	TF binding region
PSME4	TF binding region
ENSG00000115239	Chromatin interaction
ENSG00000120875	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000068912	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000155329	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000115306	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv3425017	chr2:54196873-54199421	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:54194000-54198800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:54194800-54198800	Active TSS	Osteobl	bone
3	chr2:54194800-54199400	Active TSS	HSMMtube	muscle
4	chr2:54195000-54198800	Active TSS	HMEC	breast
5	chr2:54195000-54199200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:54195000-54199400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:54195200-54199200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:54195200-54199400	Active TSS	HSMM	muscle
9	chr2:54195400-54198000	Active TSS	Right Atrium	heart
10	chr2:54195400-54198600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:54195400-54199000	Active TSS	Left Ventricle	heart
12	chr2:54195400-54199000	Active TSS	Right Ventricle	heart
13	chr2:54195400-54199200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:54195400-54199200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:54195400-54199200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:54195400-54199200	Active TSS	Psoas Muscle	Psoas
17	chr2:54195400-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:54195600-54198800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:54195600-54198800	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:54195600-54199000	Active TSS	Aorta	Aorta
21	chr2:54195600-54199000	Active TSS	Fetal Muscle Leg	muscle
22	chr2:54195600-54199200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr2:54195600-54199200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:54195800-54198800	Active TSS	K562	blood
25	chr2:54195800-54198800	Active TSS	NHEK	skin
26	chr2:54195800-54199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:54195800-54199000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:54195800-54199200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr2:54195800-54199200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:54195800-54199200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:54195800-54199200	Active TSS	Ovary	ovary
32	chr2:54195800-54199200	Active TSS	NHDF-Ad	bronchial
33	chr2:54196000-54198400	Active TSS	NH-A	brain
34	chr2:54196000-54198600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:54196000-54198600	Active TSS	Brain Angular Gyrus	brain
36	chr2:54196000-54198600	Active TSS	Hela-S3	cervix
37	chr2:54196000-54198800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:54196000-54198800	Active TSS	Fetal Thymus	thymus
39	chr2:54196000-54199000	Active TSS	GM12878-XiMat	blood
40	chr2:54196000-54199200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:54196000-54199200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:54196000-54199200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr2:54196000-54199200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:54196000-54199200	Active TSS	NHLF	lung
45	chr2:54196000-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:54196200-54198400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:54196200-54198400	Active TSS	HUVEC	blood vessel
48	chr2:54196200-54198600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:54196200-54198800	Active TSS	Brain Anterior Caudate	brain
50	chr2:54196200-54199200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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