Variant report

Variant	rs202107709
Chromosome Location	chr1:150522468-150522469
allele	-/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

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	UBTF	chr1:150520994-150524023	K562	blood:	n/a	n/a
3	POLR2A	chr1:150520907-150522658	MCF10A-Er-Src	breast:	n/a	n/a
4	NR2F2	chr1:150521821-150522610	K562	blood:	n/a	n/a
5	POLR2A	chr1:150520827-150522839	PANC-1	pancreas:	n/a	n/a
6	RCOR1	chr1:150522431-150522639	K562	blood:	n/a	n/a
7	MAZ	chr1:150521008-150523521	K562	blood:	n/a	chr1:150522785-150522795
8	POLR2A	chr1:150521067-150522697	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:150521822-150523160	PANC-1	pancreas:	n/a	n/a
10	MAX	chr1:150520903-150522868	K562	blood:	n/a	chr1:150522785-150522795
11	POLR2A	chr1:150522423-150522812	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:150522378-150522533	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
14	TAF1	chr1:150522390-150522826	K562	blood:	n/a	n/a
15	TBP	chr1:150522462-150523373	K562	blood:	n/a	n/a
16	E2F6	chr1:150521108-150522600	K562	blood:	n/a	chr1:150521427-150521437
17	POLR2A	chr1:150521058-150525512	K562	blood:	n/a	n/a
18	POLR2A	chr1:150521554-150527416	K562	blood:	n/a	n/a
19	POLR2A	chr1:150521048-150522797	K562	blood:	n/a	n/a
20	ZBTB7A	chr1:150522454-150523365	K562	blood:	n/a	n/a
21	POLR2A	chr1:150521038-150523632	K562	blood:	n/a	n/a
22	POLR2A	chr1:150520920-150525557	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:150520974-150523359	K562	blood:	n/a	n/a
24	MAZ	chr1:150521021-150522495	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:150521020-150523325	K562	blood:	n/a	n/a
26	POLR2A	chr1:150521814-150527516	K562	blood:	n/a	n/a
27	POLR2A	chr1:150520991-150522668	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr1:150521058-150522474	K562	blood:	n/a	n/a
29	MAZ	chr1:150520899-150523814	IMR90	lung:	n/a	chr1:150522785-150522795
30	POLR2A	chr1:150521151-150522596	HepG2	liver:	n/a	n/a
31	PML	chr1:150521377-150522753	K562	blood:	n/a	n/a
32	POLR2A	chr1:150520973-150527524	K562	blood:	n/a	n/a
33	HEY1	chr1:150522365-150522871	K562	blood:	n/a	n/a
34	POLR2A	chr1:150521033-150525464	K562	blood:	n/a	n/a
35	JUND	chr1:150522400-150522480	K562	blood:	n/a	n/a
36	MYC	chr1:150522401-150522706	K562	blood:	n/a	n/a
37	NR2F2	chr1:150521064-150522572	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:150522304-150522476	ProgFib	skin:	n/a	n/a
39	POLR2A	chr1:150520899-150522758	MCF10A-Er-Src	breast:	n/a	n/a
40	SMARCB1	chr1:150521057-150523377	Hela-S3	cervix:	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
MIR4257	TF binding region
ADAMTSL4	TF binding region
ENSG00000163125	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000271845	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150520800-150523000	Active TSS	K562	blood
2	chr1:150521000-150522600	Active TSS	Colon Smooth Muscle	Colon
3	chr1:150521000-150522600	Active TSS	Right Atrium	heart
4	chr1:150521000-150522600	Active TSS	Small Intestine	intestine
5	chr1:150521000-150522800	Active TSS	Aorta	Aorta
6	chr1:150521000-150522800	Active TSS	HSMMtube	muscle
7	chr1:150521000-150523000	Active TSS	HSMM	muscle
8	chr1:150521000-150523200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:150521200-150522600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:150521200-150522600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:150521200-150522600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:150521200-150522600	Active TSS	Brain Substantia Nigra	brain
13	chr1:150521200-150522600	Active TSS	NHDF-Ad	bronchial
14	chr1:150521200-150524000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:150521400-150522600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:150521400-150522800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr1:150521400-150523200	Active TSS	Right Ventricle	heart
18	chr1:150521400-150524400	Weak transcription	Fetal Kidney	kidney
19	chr1:150521400-150524600	Enhancers	Spleen	Spleen
20	chr1:150521600-150522600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150521600-150522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:150521600-150522600	Active TSS	Colonic Mucosa	Colon
23	chr1:150521600-150524800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:150521600-150525600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr1:150521600-150532600	Weak transcription	Brain Angular Gyrus	brain
26	chr1:150521800-150522600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr1:150521800-150522800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:150521800-150522800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:150521800-150524200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:150522000-150522600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:150522000-150522600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr1:150522000-150522600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr1:150522000-150522800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:150522000-150522800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:150522000-150522800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:150522000-150522800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:150522000-150522800	Flanking Active TSS	Liver	Liver
38	chr1:150522000-150522800	Flanking Active TSS	Esophagus	oesophagus
39	chr1:150522000-150522800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr1:150522000-150522800	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr1:150522000-150522800	Flanking Active TSS	Left Ventricle	heart
42	chr1:150522000-150522800	Flanking Active TSS	Pancreas	Pancrea
43	chr1:150522000-150522800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
44	chr1:150522000-150522800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:150522000-150523200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:150522000-150523400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:150522000-150523800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr1:150522000-150524000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr1:150522000-150524000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:150522000-150524600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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