Variant report

Variant	rs532939631
Chromosome Location	chr2:54197202-54197203
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr2:54196785-54197817	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr2:54197127-54197437	GM12878	blood:	n/a	chr2:54197136-54197147
3	POLR2A	chr2:54195426-54199062	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr2:54196385-54197303	IMR90	lung:	n/a	n/a
5	POLR2A	chr2:54196963-54198609	GM18505	blood:	n/a	n/a
6	MTA3	chr2:54196807-54197778	GM12878	blood:	n/a	n/a
7	SIN3A	chr2:54196870-54198934	H1-hESC	embryonic stem cell:	n/a	chr2:54197564-54197573
8	POLR2A	chr2:54197124-54197880	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:54197078-54197601	K562	blood:	n/a	n/a
10	STAT1	chr2:54197196-54197585	GM12878	blood:	n/a	chr2:54197310-54197322 chr2:54197242-54197254
11	POLR2A	chr2:54197116-54198687	HUVEC	blood vessel:	n/a	n/a
12	MXI1	chr2:54196383-54198843	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:54197072-54198827	Raji	blood:	n/a	n/a
14	MAX	chr2:54197189-54198967	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:54197080-54198599	GM19193	blood:	n/a	n/a
16	EBF1	chr2:54197137-54197576	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:54197046-54198617	K562	blood:	n/a	n/a
18	MAX	chr2:54197103-54198883	A549	lung:	n/a	n/a
19	POLR2A	chr2:54196917-54198597	K562	blood:	n/a	n/a
20	POLR2A	chr2:54197030-54197604	GM12878	blood:	n/a	n/a
21	TEAD4	chr2:54196890-54197711	K562	blood:	n/a	n/a
22	SMARCB1	chr2:54197167-54198570	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr2:54197070-54198885	K562	blood:	n/a	n/a
24	MYC	chr2:54196468-54198557	K562	blood:	n/a	chr2:54196587-54196596
25	BACH1	chr2:54197075-54197263	K562	blood:	n/a	n/a
26	POLR2A	chr2:54197173-54199820	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:54197129-54198664	K562	blood:	n/a	n/a
28	MXI1	chr2:54196488-54198519	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr2:54196888-54197404	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr2:54196861-54197933	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:54197077-54199214	SK-N-MC	brain:	n/a	n/a
32	PML	chr2:54197112-54198774	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:54197150-54198464	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:54196996-54197553	PFSK-1	brain:	n/a	n/a
35	TAF1	chr2:54197009-54197485	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr2:54197052-54197356	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:54197004-54198965	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr2:54195490-54199155	PBDE	blood:	n/a	n/a
39	TBL1XR1	chr2:54196197-54197202	K562	blood:	n/a	n/a
40	POLR2A	chr2:54196918-54197926	GM12891	blood:	n/a	n/a
41	POLR2A	chr2:54196451-54198831	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr2:54197052-54199126	PFSK-1	brain:	n/a	n/a
43	TAF1	chr2:54197103-54197909	K562	blood:	n/a	n/a
44	POLR2A	chr2:54196991-54197944	Hela-S3	cervix:	n/a	n/a
45	SIN3AK20	chr2:54197089-54197811	SK-N-SH	brain:	n/a	n/a
46	MAZ	chr2:54197149-54198622	GM12878	blood:	n/a	n/a
47	TEAD4	chr2:54196330-54197210	HepG2	liver:	n/a	n/a
48	MXI1	chr2:54196016-54199237	IMR90	lung:	n/a	n/a
49	POLR2A	chr2:54196915-54199067	GM12891	blood:	n/a	n/a
50	TCF12	chr2:54197101-54198937	A549	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30583021..30583813-chr2:54196749..54197540,2	Hela-S3	cervix:
2	chr2:54174064..54177025-chr2:54196606..54198334,2	K562	blood:
3	chr2:54195012..54197478-chr2:54219368..54222229,2	K562	blood:
4	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
5	chr2:54195792..54198215-chr2:55457941..55460893,2	K562	blood:
6	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
7	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
8	chr2:54014148..54016031-chr2:54196984..54199909,2	MCF-7	breast:
9	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
10	chr2:54196421..54198197-chr2:55274517..55277399,2	MCF-7	breast:
11	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
12	chr2:54195961..54197468-chr2:54240342..54242610,2	MCF-7	breast:
13	chr2:54194885..54197429-chr2:55459526..55461126,2	MCF-7	breast:
14	chr2:54194904..54197235-chr2:54307312..54309509,2	K562	blood:
15	chr2:54196664..54197534-chr9:136649238..136649738,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ACYP2	TF binding region
ENSG00000068912	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000115239	Chromatin interaction
ENSG00000241114	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000239791	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	chr2:54195200-54197400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:54195200-54199200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:54195200-54199400	Active TSS	HSMM	muscle
10	chr2:54195400-54197400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:54195400-54198000	Active TSS	Right Atrium	heart
12	chr2:54195400-54198600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:54195400-54199000	Active TSS	Left Ventricle	heart
14	chr2:54195400-54199000	Active TSS	Right Ventricle	heart
15	chr2:54195400-54199200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:54195400-54199200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:54195400-54199200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:54195400-54199200	Active TSS	Psoas Muscle	Psoas
19	chr2:54195400-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:54195600-54198800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:54195600-54198800	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:54195600-54199000	Active TSS	Aorta	Aorta
23	chr2:54195600-54199000	Active TSS	Fetal Muscle Leg	muscle
24	chr2:54195600-54199200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr2:54195600-54199200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:54195800-54197400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:54195800-54198800	Active TSS	K562	blood
28	chr2:54195800-54198800	Active TSS	NHEK	skin
29	chr2:54195800-54199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:54195800-54199000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:54195800-54199200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr2:54195800-54199200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:54195800-54199200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:54195800-54199200	Active TSS	Ovary	ovary
35	chr2:54195800-54199200	Active TSS	NHDF-Ad	bronchial
36	chr2:54196000-54198400	Active TSS	NH-A	brain
37	chr2:54196000-54198600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:54196000-54198600	Active TSS	Brain Angular Gyrus	brain
39	chr2:54196000-54198600	Active TSS	Hela-S3	cervix
40	chr2:54196000-54198800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr2:54196000-54198800	Active TSS	Fetal Thymus	thymus
42	chr2:54196000-54199000	Active TSS	GM12878-XiMat	blood
43	chr2:54196000-54199200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:54196000-54199200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:54196000-54199200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:54196000-54199200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:54196000-54199200	Active TSS	NHLF	lung
48	chr2:54196000-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:54196200-54197400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:54196200-54198400	Active TSS	Duodenum Smooth Muscle	Duodenum

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