Variant report

Variant	rs572020363
Chromosome Location	chr1:171749998-171749999
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:171749877-171750654	K562	blood:	n/a	n/a
2	MXI1	chr1:171749996-171752068	IMR90	lung:	n/a	n/a
3	REST	chr1:171749782-171751486	H1-neurons	neurons:	n/a	chr1:171750267-171750277
4	POLR2A	chr1:171749818-171751202	GM12892	blood:	n/a	n/a
5	ELF1	chr1:171749986-171751309	MCF-7	breast:	n/a	chr1:171750768-171750780 chr1:171750645-171750657
6	POLR2A	chr1:171749968-171751564	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:171749822-171751083	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:171749872-171751405	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:171749666-171751578	K562	blood:	n/a	n/a
10	POLR2A	chr1:171749989-171751122	K562	blood:	n/a	n/a
11	JUND	chr1:171749878-171751367	K562	blood:	n/a	chr1:171750440-171750450
12	POLR2A	chr1:171749898-171751209	HUVEC	blood vessel:	n/a	n/a
13	IRF1	chr1:171749271-171751404	K562	blood:	n/a	chr1:171750714-171750723 chr1:171750617-171750631
14	NR2F2	chr1:171749658-171751562	K562	blood:	n/a	n/a
15	MAX	chr1:171749888-171751079	H1-hESC	embryonic stem cell:	n/a	n/a
16	CBX3	chr1:171749560-171751124	K562	blood:	n/a	n/a
17	POLR2A	chr1:171749975-171751398	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr1:171749759-171751038	HCT-116	colon:	n/a	n/a
19	POLR2A	chr1:171749833-171751582	K562	blood:	n/a	n/a
20	TEAD4	chr1:171749884-171751350	K562	blood:	n/a	n/a
21	POLR2A	chr1:171749657-171751517	PBDE	blood:	n/a	n/a
22	E2F6	chr1:171749938-171751241	H1-hESC	embryonic stem cell:	n/a	chr1:171750399-171750410 chr1:171750714-171750723
23	POLR2A	chr1:171749974-171751217	H1-neurons	neurons:	n/a	n/a
24	HCFC1	chr1:171749982-171751470	K562	blood:	n/a	n/a
25	POLR2A	chr1:171749594-171751396	Raji	blood:	n/a	n/a
26	POLR2A	chr1:171749993-171751402	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr1:171749824-171751371	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMARCC1	chr1:171749901-171751414	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:171749926-171751219	Hela-S3	cervix:	n/a	n/a
30	KAP1	chr1:171749623-171750355	K562	blood:	n/a	n/a
31	POLR2A	chr1:171749738-171751188	GM12892	blood:	n/a	n/a
32	GTF2F1	chr1:171749906-171751261	Hela-S3	cervix:	n/a	n/a
33	TAF1	chr1:171749994-171751200	MCF-7	breast:	n/a	n/a
34	TBL1XR1	chr1:171749922-171751087	K562	blood:	n/a	n/a
35	FOS	chr1:171749897-171750807	HUVEC	blood vessel:	n/a	chr1:171750440-171750450
36	HEY1	chr1:171749996-171751419	K562	blood:	n/a	n/a
37	MXI1	chr1:171749215-171752807	SK-N-SH	brain:	n/a	n/a
38	RCOR1	chr1:171749524-171751256	K562	blood:	n/a	n/a
39	POLR2A	chr1:171749738-171751638	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr1:171749984-171751162	HL-60	blood:	n/a	n/a
41	POLR2A	chr1:171749967-171751397	GM19193	blood:	n/a	n/a
42	E2F6	chr1:171749965-171750544	K562	blood:	n/a	chr1:171750399-171750410
43	POLR2A	chr1:171749873-171751440	K562	blood:	n/a	n/a
44	POLR2A	chr1:171749896-171751444	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr1:171749972-171751384	IMR90	lung:	n/a	n/a
46	MTA3	chr1:171749834-171751414	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:171749834-171751216	GM12892	blood:	n/a	n/a
48	ELK1	chr1:171749977-171750942	K562	blood:	n/a	n/a
49	PML	chr1:171749958-171751227	K562	blood:	n/a	n/a
50	POLR2A	chr1:171749551-171752609	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
2	chr1:171738907..171740950-chr1:171747822..171750244,2	MCF-7	breast:
3	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
4	chr1:155196799..155197506-chr1:171749732..171750634,2	Hela-S3	cervix:
5	chr1:171711288..171712051-chr1:171749296..171750274,2	Hela-S3	cervix:
6	chr1:171710046..171714350-chr1:171748592..171750523,6	K562	blood:
7	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
8	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:
9	chr1:171729687..171733295-chr1:171747531..171751881,5	K562	blood:
10	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
11	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
12	chr1:171728708..171731158-chr1:171748251..171750478,2	MCF-7	breast:
13	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
14	chr1:171749924..171750607-chr10:105211765..105212634,2	HCT-116	colon:
15	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
16	chr1:171724145..171725831-chr1:171749285..171750823,2	K562	blood:

No data

Variant related genes	Relation type
METTL13	TF binding region
ENSG00000234699	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000236741	Chromatin interaction
ENSG00000232261	Chromatin interaction
ENSG00000253060	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000271459	Chromatin interaction
ENSG00000010165	Chromatin interaction
ENSG00000138172	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1802105	chr1:171749558-171751236	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1802411	chr1:171749665-171751051	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv522889	chr1:171749665-171755071	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171749000-171750200	Flanking Active TSS	Dnd41	blood
2	chr1:171749400-171750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:171749400-171750000	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr1:171749400-171750200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:171749400-171750200	Flanking Active TSS	K562	blood
6	chr1:171749600-171750000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:171749600-171750000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:171749600-171750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:171749600-171750000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr1:171749600-171750000	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr1:171749600-171750000	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr1:171749600-171750000	Enhancers	Esophagus	oesophagus
13	chr1:171749600-171750000	Enhancers	Small Intestine	intestine
14	chr1:171749600-171750000	Flanking Active TSS	Thymus	Thymus
15	chr1:171749600-171750000	Enhancers	Spleen	Spleen
16	chr1:171749600-171750200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:171749600-171750200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr1:171749600-171750200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:171749600-171750200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:171749600-171750200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:171749600-171750200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:171749600-171750200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:171749600-171750200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:171749600-171750200	Flanking Active TSS	Fetal Thymus	thymus
25	chr1:171749600-171750200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:171749600-171750200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:171749600-171750200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:171749600-171750200	Flanking Active TSS	GM12878-XiMat	blood
29	chr1:171749600-171750400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:171749600-171750400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr1:171749600-171751200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:171749600-171751400	Active TSS	Brain Anterior Caudate	brain
33	chr1:171749600-171751400	Active TSS	Fetal Heart	heart
34	chr1:171749600-171751400	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:171749600-171751600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:171749600-171751600	Active TSS	Brain Substantia Nigra	brain
37	chr1:171749600-171751800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:171749600-171751800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:171749600-171751800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:171749600-171751800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:171749600-171751800	Active TSS	Fetal Kidney	kidney
42	chr1:171749600-171752000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:171749600-171752000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:171749600-171752200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:171749600-171752400	Active TSS	Rectal Smooth Muscle	rectum
46	chr1:171749800-171750000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:171749800-171750000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:171749800-171750000	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:171749800-171750000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:171749800-171750000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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