Variant report

Variant	rs587633196
Chromosome Location	chr1:150522337-150522338
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr1:150522229-150522751	K562	blood:	n/a	n/a
2	ZBTB7A	chr1:150521239-150522376	K562	blood:	n/a	n/a
3	UBTF	chr1:150520994-150524023	K562	blood:	n/a	n/a
4	MAZ	chr1:150522013-150522377	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr1:150521938-150522395	A549	lung:	n/a	n/a
7	NR2F2	chr1:150521821-150522610	K562	blood:	n/a	n/a
8	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
9	GABPA	chr1:150521832-150522391	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr1:150521919-150522356	HepG2	liver:	n/a	n/a
11	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
12	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:150521822-150523160	PANC-1	pancreas:	n/a	n/a
14	SIN3A	chr1:150522131-150522346	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
16	POLR2A	chr1:150522253-150522391	MCF-7	breast:	n/a	n/a
17	ZBTB7A	chr1:150521276-150522391	K562	blood:	n/a	n/a
18	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
19	TEAD4	chr1:150521909-150522346	K562	blood:	n/a	n/a
20	TBL1XR1	chr1:150520962-150522391	K562	blood:	n/a	n/a
21	E2F6	chr1:150521108-150522600	K562	blood:	n/a	chr1:150521427-150521437
22	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a
23	POLR2A	chr1:150521554-150527416	K562	blood:	n/a	n/a
24	POLR2A	chr1:150521048-150522797	K562	blood:	n/a	n/a
25	POLR2A	chr1:150522294-150522355	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:150521141-150522377	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:150521038-150523632	K562	blood:	n/a	n/a
28	HEY1	chr1:150520954-150522395	K562	blood:	n/a	chr1:150521994-150522009
29	POLR2A	chr1:150520920-150525557	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:150520974-150523359	K562	blood:	n/a	n/a
31	MAZ	chr1:150521021-150522495	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:150521020-150523325	K562	blood:	n/a	n/a
33	CTCF	chr1:150522300-150522450	HCM	heart:	n/a	n/a
34	TAF1	chr1:150521107-150522385	K562	blood:	n/a	n/a
35	TEAD4	chr1:150521825-150522372	K562	blood:	n/a	n/a
36	CTCF	chr1:150522200-150522350	NHDF-neo	bronchial:	n/a	n/a
37	POLR2A	chr1:150521814-150527516	K562	blood:	n/a	n/a
38	RAD21	chr1:150521992-150522408	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr1:150521124-150522384	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:150520991-150522668	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr1:150521058-150522474	K562	blood:	n/a	n/a
42	TEAD4	chr1:150521917-150522345	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAZ	chr1:150520899-150523814	IMR90	lung:	n/a	chr1:150522785-150522795
44	MAX	chr1:150522318-150522379	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:150521151-150522596	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:150522224-150522387	A549	lung:	n/a	n/a
47	POLR2A	chr1:150522232-150522362	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:150521104-150522369	HUVEC	blood vessel:	n/a	n/a
49	PML	chr1:150521377-150522753	K562	blood:	n/a	n/a
50	POLR2A	chr1:150520973-150527524	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150227836..150230192-chr1:150521467..150523893,3	MCF-7	breast:
2	chr1:28974550..28975376-chr1:150521802..150522571,2	Hela-S3	cervix:
3	chr1:150205674..150207849-chr1:150521366..150523683,3	K562	blood:
4	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
5	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
6	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
7	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
8	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
9	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
10	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
11	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL4	TF binding region
MIR4257	TF binding region
ENSG00000203804	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000143401	Chromatin interaction

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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases
4	esv3437004	chr1:150520753-150523301	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150520800-150522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:150520800-150523000	Active TSS	K562	blood
3	chr1:150521000-150522400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:150521000-150522400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:150521000-150522400	Active TSS	Brain Hippocampus Middle	brain
6	chr1:150521000-150522400	Active TSS	Psoas Muscle	Psoas
7	chr1:150521000-150522400	Active TSS	NHLF	lung
8	chr1:150521000-150522600	Active TSS	Colon Smooth Muscle	Colon
9	chr1:150521000-150522600	Active TSS	Right Atrium	heart
10	chr1:150521000-150522600	Active TSS	Small Intestine	intestine
11	chr1:150521000-150522800	Active TSS	Aorta	Aorta
12	chr1:150521000-150522800	Active TSS	HSMMtube	muscle
13	chr1:150521000-150523000	Active TSS	HSMM	muscle
14	chr1:150521000-150523200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:150521200-150522400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:150521200-150522400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:150521200-150522600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:150521200-150522600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:150521200-150522600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:150521200-150522600	Active TSS	Brain Substantia Nigra	brain
21	chr1:150521200-150522600	Active TSS	NHDF-Ad	bronchial
22	chr1:150521200-150524000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:150521400-150522400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:150521400-150522400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:150521400-150522400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:150521400-150522400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:150521400-150522400	Bivalent Enhancer	Fetal Brain Male	brain
28	chr1:150521400-150522400	Bivalent/Poised TSS	HepG2	liver
29	chr1:150521400-150522400	Active TSS	Osteobl	bone
30	chr1:150521400-150522600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:150521400-150522800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr1:150521400-150523200	Active TSS	Right Ventricle	heart
33	chr1:150521400-150524400	Weak transcription	Fetal Kidney	kidney
34	chr1:150521400-150524600	Enhancers	Spleen	Spleen
35	chr1:150521600-150522400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:150521600-150522400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:150521600-150522400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:150521600-150522400	Bivalent Enhancer	Fetal Thymus	thymus
39	chr1:150521600-150522600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr1:150521600-150522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:150521600-150522600	Active TSS	Colonic Mucosa	Colon
42	chr1:150521600-150524800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:150521600-150525600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr1:150521600-150532600	Weak transcription	Brain Angular Gyrus	brain
45	chr1:150521800-150522400	Enhancers	Fetal Heart	heart
46	chr1:150521800-150522600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr1:150521800-150522800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:150521800-150522800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:150521800-150524200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:150522000-150522400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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