Variant report

Variant	rs536543685
Chromosome Location	chr1:9749320-9749321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:9749058-9749460	Hela-S3	cervix:	n/a	n/a
2	ZNF143	chr1:9749056-9749744	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:9749068-9749450	K562	blood:	n/a	n/a
4	MAX	chr1:9749225-9749388	HepG2	liver:	n/a	n/a
5	ZNF384	chr1:9749303-9749324	K562	blood:	n/a	n/a
6	HMGN3	chr1:9749062-9750237	K562	blood:	n/a	n/a
7	HCFC1	chr1:9749114-9749765	K562	blood:	n/a	n/a
8	RFX5	chr1:9749042-9749504	Hela-S3	cervix:	n/a	n/a
9	PML	chr1:9748622-9749373	GM12878	blood:	n/a	n/a
10	TCF7L2	chr1:9748911-9749391	Hela-S3	cervix:	n/a	n/a
11	NRF1	chr1:9749219-9749604	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:9746782-9749522	GM12878	blood:	n/a	n/a
13	MAX	chr1:9748992-9749813	K562	blood:	n/a	n/a
14	EP300	chr1:9748976-9749346	K562	blood:	n/a	chr1:9749292-9749308
15	YY1	chr1:9749237-9749499	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:9749107-9749508	HCT-116	colon:	n/a	n/a
17	SIN3A	chr1:9748978-9750817	H1-hESC	embryonic stem cell:	n/a	chr1:9750298-9750311 chr1:9750560-9750574
18	TBP	chr1:9749186-9749763	K562	blood:	n/a	n/a
19	CHD2	chr1:9749245-9749448	GM12878	blood:	n/a	n/a
20	MAX	chr1:9749010-9749526	ECC-1	luminal epithelium:	n/a	n/a
21	ELF1	chr1:9748978-9749510	GM12878	blood:	n/a	chr1:9749100-9749112
22	IRF3	chr1:9749243-9749511	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr1:9748896-9749389	K562	blood:	n/a	n/a
24	POLR2A	chr1:9749158-9749478	HepG2	liver:	n/a	n/a
25	MAX	chr1:9748909-9749685	A549	lung:	n/a	n/a
26	CTCF	chr1:9749200-9749350	GM12867	blood:	n/a	n/a
27	MYC	chr1:9749055-9749663	K562	blood:	n/a	n/a
28	UBTF	chr1:9749049-9749750	K562	blood:	n/a	n/a
29	TBP	chr1:9749093-9749330	Hela-S3	cervix:	n/a	n/a
30	NFIC	chr1:9749168-9749470	GM12878	blood:	n/a	n/a
31	MXI1	chr1:9748967-9749818	GM12878	blood:	n/a	chr1:9749721-9749736
32	BRCA1	chr1:9749201-9749470	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:9748284-9749469	GM12891	blood:	n/a	n/a
34	YY1	chr1:9749189-9749496	SK-N-SH_RA	brain:	n/a	n/a
35	HEY1	chr1:9749179-9749492	HepG2	liver:	n/a	n/a
36	YY1	chr1:9749313-9749512	K562	blood:	n/a	n/a
37	TCF3	chr1:9749205-9749498	GM12878	blood:	n/a	n/a
38	ZBTB7A	chr1:9748993-9750468	ECC-1	luminal epithelium:	n/a	chr1:9749244-9749253
39	CHD2	chr1:9749254-9749471	K562	blood:	n/a	n/a
40	POLR2A	chr1:9749046-9749795	GM18951	blood:	n/a	n/a
41	POLR2A	chr1:9749122-9750384	H1-hESC	embryonic stem cell:	n/a	n/a
42	RFX5	chr1:9749246-9749367	K562	blood:	n/a	n/a
43	BHLHE40	chr1:9749112-9749480	GM12878	blood:	n/a	chr1:9749312-9749328
44	POLR2A	chr1:9748730-9749343	GM12892	blood:	n/a	n/a
45	BHLHE40	chr1:9749028-9749470	K562	blood:	n/a	chr1:9749312-9749328
46	POLR2A	chr1:9749153-9749478	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr1:9749058-9749367	GM12891	blood:	n/a	n/a
48	MAX	chr1:9749056-9749491	Hela-S3	cervix:	n/a	n/a
49	ZBTB7A	chr1:9749097-9750357	K562	blood:	n/a	chr1:9749244-9749253
50	RUNX3	chr1:9748910-9749367	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9749296-9749346	ProgFib	skin:	n/a
2	chr1:9749296-9749346	HMEC	breast:	n/a
3	chr1:9749296-9749346	IMR90	lung:	fetal
4	chr1:9749296-9749346	SK-N-SH_RA	brain:	n/a
5	chr1:9749296-9749346	BE2_C	brain:	n/a
6	chr1:9749296-9749346	HepG2	liver:	n/a
7	chr1:9749296-9749346	HUVEC	blood vessel:	n/a
8	chr1:9749296-9749346	GM12892	blood:	n/a
9	chr1:9749296-9749346	AoSMC	blood vessel:	n/a
10	chr1:9749296-9749346	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:9749296-9749346	HRPEpiC	eye:	n/a
12	chr1:9749296-9749346	Hepatocyte	liver:	n/a
13	chr1:9749296-9749346	AG09319	gingival:	n/a
14	chr1:9749296-9749346	NH-A	brain:	n/a
15	chr1:9749296-9749346	HNPCEpiC	eye:	n/a
16	chr1:9749296-9749346	K562	blood:	n/a
17	chr1:9749296-9749346	HCPEpiC	choroid plexus:	n/a
18	chr1:9749296-9749346	GM12891	blood:	n/a
19	chr1:9749296-9749346	NB4	blood:	n/a
20	chr1:9749296-9749346	RPTEC	kidney:	n/a
21	chr1:9749296-9749346	HL-60	blood:	n/a
22	chr1:9749296-9749346	AG09309	skin:	n/a
23	chr1:9749296-9749346	LNCaP	prostate:	n/a
24	chr1:9749296-9749346	PrEC	prostate:	n/a
25	chr1:9749296-9749346	PFSK-1	brain:	n/a
26	chr1:9749296-9749346	U87	brain:	n/a
27	chr1:9749296-9749346	HEEpiC	esophagus:	n/a
28	chr1:9749296-9749346	SK-N-SH	brain:	n/a
29	chr1:9749296-9749346	ovcar-3	ovarian:	n/a
30	chr1:9749296-9749346	SK-N-MC	brain:	n/a
31	chr1:9749296-9749346	NT2-D1	testis:	n/a
32	chr1:9749296-9749346	HRCEpiC	kidney:	n/a
33	chr1:9749296-9749346	GM06990	blood:	n/a
34	chr1:9749296-9749346	T-47D	breast:	n/a
35	chr1:9749296-9749346	H1-hESC	embryonic stem cell:	embryo
36	chr1:9749296-9749346	HRE	kidney:	n/a
37	chr1:9749296-9749346	MCF10A-Er-Src	breast:	n/a
38	chr1:9749296-9749346	NHDF-neo	bronchial:	n/a
39	chr1:9749296-9749346	HCM	heart:	n/a
40	chr1:9749296-9749346	A549	lung:	n/a
41	chr1:9749296-9749346	SKMC	muscle:	n/a
42	chr1:9749296-9749346	HAEpiC	amniotic membrane:	n/a
43	chr1:9749296-9749346	Caco-2	colon:	n/a
44	chr1:9749296-9749346	ECC-1	luminal epithelium:	n/a
45	chr1:9749296-9749346	HIPEpiC	eye:	n/a
46	chr1:9749296-9749346	AG10803	skin:	n/a
47	chr1:9749296-9749346	HCT-116	colon:	n/a
48	chr1:9749296-9749346	SAEC	small airway:	n/a
49	chr1:9749296-9749346	CMK	blood:	n/a
50	chr1:9749296-9749346	GM12878	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9713945..9716849-chr1:9747887..9749463,2	K562	blood:
2	chr1:9692182..9693930-chr1:9748451..9750202,2	K562	blood:
3	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
4	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
5	chr1:9746655..9749475-chr1:9776621..9778385,2	K562	blood:
6	chr1:9712578..9717626-chr1:9745796..9749976,6	K562	blood:
7	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
8	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231789	TF binding region
ENSG00000231789	CpG island
ENSG00000231789	Chromatin interaction
ENSG00000171608	Chromatin interaction
ENSG00000179840	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3408612	chr1:9748390-9751238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3426414	chr1:9748415-9751113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3424708	chr1:9748735-9771466	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3338032	chr1:9749165-9750613	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9746800-9749400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:9746800-9750600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:9747000-9749400	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr1:9747000-9749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:9747000-9749400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:9747000-9749400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:9747000-9749400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:9747000-9749400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr1:9747000-9749400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:9747000-9749400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:9747000-9749400	Flanking Active TSS	NH-A	brain
12	chr1:9747000-9750400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:9747000-9750400	Active TSS	HSMM	muscle
14	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:9747200-9749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:9747200-9749400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:9747200-9749400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:9747200-9749400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr1:9747200-9749400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr1:9747200-9749400	Flanking Active TSS	HMEC	breast
21	chr1:9747200-9750400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:9747200-9750400	Active TSS	Aorta	Aorta
23	chr1:9747200-9750600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:9747400-9750200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:9747600-9749400	Flanking Active TSS	Thymus	Thymus
26	chr1:9747800-9749400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:9747800-9749400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:9747800-9749400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:9747800-9749400	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:9747800-9750400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:9748000-9749400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:9748000-9749400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:9748000-9749400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr1:9748000-9749400	Flanking Active TSS	Osteobl	bone
35	chr1:9748200-9749400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:9748200-9749400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr1:9748200-9749400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:9748200-9749400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:9748200-9749400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr1:9748200-9749400	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr1:9748200-9749400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr1:9748200-9749400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:9748200-9749400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:9748400-9749400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:9748600-9749400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr1:9748600-9749400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr1:9748600-9749400	Flanking Active TSS	Dnd41	blood
48	chr1:9748600-9750000	Bivalent/Poised TSS	Colonic Mucosa	Colon
49	chr1:9748600-9750600	Active TSS	Right Atrium	heart
50	chr1:9748600-9750600	Active TSS	NHLF	lung

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