Variant report

Variant	rs540987432
Chromosome Location	chr2:172017179-172017180
allele	A/C
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	TCF12	chr2:172017121-172017494	GM12878	blood:	n/a	chr2:172017439-172017448
2	E2F4	chr2:172016859-172017919	MCF10A-Er-Src	breast:	n/a	chr2:172017415-172017425
3	TCF12	chr2:172015626-172017580	A549	lung:	n/a	chr2:172017439-172017448
4	POLR2A	chr2:172016724-172017534	HepG2	liver:	n/a	n/a
5	RAD21	chr2:172016595-172018002	H1-hESC	embryonic stem cell:	n/a	chr2:172017537-172017551
6	MAX	chr2:172016810-172018057	GM12878	blood:	n/a	n/a
7	YY1	chr2:172016473-172017331	NT2-D1	testis:	n/a	chr2:172016885-172016905
8	POLR2A	chr2:172016027-172017981	NB4	blood:	n/a	n/a
9	POU2F2	chr2:172016735-172018012	GM12878	blood:	n/a	chr2:172017376-172017388 chr2:172017981-172017991 chr2:172017544-172017556 chr2:172017981-172017991
10	STAT5A	chr2:172016673-172017460	GM12878	blood:	n/a	chr2:172016948-172016956
11	JUND	chr2:172017073-172017488	A549	lung:	n/a	n/a
12	POLR2A	chr2:172015773-172018047	GM18526	blood:	n/a	n/a
13	TBP	chr2:172016828-172017461	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:172016840-172018486	K562	blood:	n/a	n/a
15	ATF2	chr2:172016904-172017224	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:172015911-172017997	GM12878	blood:	n/a	n/a
17	CTBP2	chr2:172016757-172017983	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr2:172015882-172018018	GM12892	blood:	n/a	chr2:172017415-172017426 chr2:172017541-172017552 chr2:172017417-172017426 chr2:172016885-172016905 chr2:172017414-172017423
19	POLR2A	chr2:172016728-172018045	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr2:172015367-172018060	GM12878	blood:	n/a	n/a
21	GATA3	chr2:172016623-172018221	A549	lung:	n/a	n/a
22	EGR1	chr2:172016823-172017496	ECC-1	luminal epithelium:	n/a	chr2:172016999-172017013 chr2:172017289-172017298
23	MAX	chr2:172016833-172017961	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:172016779-172017516	HUVEC	blood vessel:	n/a	n/a
25	MAX	chr2:172017139-172017998	NB4	blood:	n/a	n/a
26	MEF2A	chr2:172017102-172018075	GM12878	blood:	n/a	chr2:172017857-172017878
27	CREB1	chr2:172016959-172017683	K562	blood:	n/a	n/a
28	EGR1	chr2:172017090-172017440	GM12878	blood:	n/a	chr2:172017289-172017298
29	MAX	chr2:172016917-172017928	HepG2	liver:	n/a	n/a
30	MTA3	chr2:172015310-172017405	GM12878	blood:	n/a	n/a
31	CEBPD	chr2:172016760-172017525	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:172016139-172017818	HEK293	kidney:	n/a	n/a
33	POLR2A	chr2:172016713-172017981	HCT-116	colon:	n/a	n/a
34	FOXA2	chr2:172017142-172017742	A549	lung:	n/a	n/a
35	E2F6	chr2:172016867-172017941	K562	blood:	n/a	chr2:172017415-172017425
36	HEY1	chr2:172016713-172017521	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:172016760-172017672	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr2:172015995-172017988	GM12878	blood:	n/a	n/a
39	FOXM1	chr2:172016849-172017518	GM12878	blood:	n/a	n/a
40	EBF1	chr2:172017077-172017468	GM12878	blood:	n/a	n/a
41	PAX5	chr2:172017131-172017896	GM12892	blood:	n/a	chr2:172017872-172017881 chr2:172017571-172017580
42	POLR2A	chr2:172016316-172017842	A549	lung:	n/a	n/a
43	HDAC2	chr2:172016765-172018116	MCF-7	breast:	n/a	chr2:172017572-172017581
44	BCL3	chr2:172016998-172017511	GM12878	blood:	n/a	chr2:172017415-172017424
45	CREB1	chr2:172017148-172017629	A549	lung:	n/a	n/a
46	E2F6	chr2:172017064-172017878	K562	blood:	n/a	chr2:172017415-172017425
47	REST	chr2:172017107-172017897	K562	blood:	n/a	n/a
48	POLR2A	chr2:172016720-172017512	HepG2	liver:	n/a	n/a
49	RAD21	chr2:172016795-172017522	H1-hESC	embryonic stem cell:	n/a	n/a
50	TBP	chr2:172015372-172018559	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172016551..172018471-chr6:20402143..20404906,2	K562	blood:
2	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
3	chr2:171921242..171923665-chr2:172015920..172017690,2	MCF-7	breast:
4	chr2:172016272..172018929-chr2:172086731..172089635,2	MCF-7	breast:
5	chr2:172015340..172019166-chr2:172288878..172291883,5	K562	blood:
6	chr2:172001492..172003805-chr2:172016771..172018907,2	MCF-7	breast:
7	chr14:75746333..75746970-chr2:172016967..172017600,2	Hela-S3	cervix:
8	chr2:172016800..172018820-chr2:172378965..172381042,2	K562	blood:
9	chr1:115053337..115055398-chr2:172016775..172018686,2	MCF-7	breast:
10	chr2:171785349..171787069-chr2:172015224..172018585,4	MCF-7	breast:
11	chr2:172016279..172018303-chr2:172948918..172950727,3	MCF-7	breast:
12	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
13	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
14	chr2:171784510..171786977-chr2:172014779..172017241,3	K562	blood:
15	chr2:171810266..171813832-chr2:172014832..172018055,4	K562	blood:
16	chr2:172002500..172008778-chr2:172012564..172018500,9	MCF-7	breast:

Variant related genes	Relation type
TLK1	TF binding region
ENSG00000197323	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000238567	Chromatin interaction
ENSG00000144355	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	esv3420180	chr2:172015931-172018479	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	esv3355452	chr2:172016331-172018879	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3367407	chr2:172016656-172018654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 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	chr2:172013800-172018200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:172013800-172018200	Active TSS	GM12878-XiMat	blood
3	chr2:172014000-172018200	Active TSS	K562	blood
4	chr2:172014000-172018800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:172014200-172018600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:172014400-172018200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:172014400-172018200	Active TSS	HSMMtube	muscle
8	chr2:172014600-172018400	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:172014600-172018600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:172014600-172018600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:172014600-172018600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:172014600-172018600	Active TSS	HMEC	breast
13	chr2:172014800-172018000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:172014800-172018200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:172014800-172018400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:172014800-172018400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:172014800-172018400	Active TSS	HSMM	muscle
18	chr2:172015000-172018000	Active TSS	Brain Anterior Caudate	brain
19	chr2:172015000-172018000	Active TSS	Osteobl	bone
20	chr2:172015000-172018200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:172015000-172018200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:172015000-172018200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:172015000-172018200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:172015000-172018200	Active TSS	Fetal Kidney	kidney
25	chr2:172015000-172018200	Active TSS	Hela-S3	cervix
26	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:172015000-172018400	Active TSS	Brain Cingulate Gyrus	brain
29	chr2:172015000-172018400	Active TSS	Colon Smooth Muscle	Colon
30	chr2:172015000-172018400	Active TSS	Fetal Brain Male	brain
31	chr2:172015000-172018400	Active TSS	NHLF	lung
32	chr2:172015200-172017800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:172015200-172018000	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:172015200-172018000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172015200-172018200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:172015200-172018200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:172015200-172018200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:172015200-172018200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:172015200-172018200	Active TSS	Placenta	Placenta
40	chr2:172015200-172018200	Active TSS	Fetal Stomach	stomach
41	chr2:172015200-172018200	Active TSS	A549	lung
42	chr2:172015200-172018400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:172015200-172018400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr2:172015200-172018400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr2:172015200-172018400	Active TSS	Fetal Thymus	thymus
46	chr2:172015200-172018400	Active TSS	NHDF-Ad	bronchial
47	chr2:172015200-172018600	Active TSS	Fetal Intestine Small	intestine
48	chr2:172015400-172018000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:172015400-172018000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:172015400-172018000	Active TSS	Esophagus	oesophagus

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