Variant report

Variant	rs74136524
Chromosome Location	chr1:181002991-181002992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:181002382-181003223	IMR90	lung:	n/a	chr1:181002525-181002545 chr1:181003025-181003041 chr1:181002527-181002543 chr1:181002528-181002542
2	POLR2A	chr1:181002888-181003297	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:181002732-181003356	HCT-116	colon:	n/a	n/a
4	STAT3	chr1:181002941-181003292	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:181002234-181003443	K562	blood:	n/a	n/a
6	MAFK	chr1:181002859-181003213	HepG2	liver:	n/a	chr1:181003025-181003041
7	CREB1	chr1:181002634-181003330	ECC-1	luminal epithelium:	n/a	n/a
8	MAFK	chr1:181002083-181003455	K562	blood:	n/a	chr1:181002525-181002545 chr1:181003025-181003041 chr1:181002527-181002543 chr1:181002528-181002542
9	POLR2A	chr1:181002484-181003403	GM12878	blood:	n/a	n/a
10	EP300	chr1:181002369-181003339	GM12878	blood:	n/a	chr1:181002994-181003008 chr1:181002413-181002422 chr1:181003000-181003014
11	MAFF	chr1:181002862-181003255	HepG2	liver:	n/a	chr1:181003020-181003038
12	POLR2A	chr1:181002943-181003309	U87	brain:	n/a	n/a
13	YY1	chr1:181002969-181003512	K562	blood:	n/a	n/a
14	CREB1	chr1:181002746-181003292	ECC-1	luminal epithelium:	n/a	n/a
15	FOS	chr1:181002912-181003227	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:181002811-181003288	GM12891	blood:	n/a	n/a
17	TBP	chr1:181002309-181003457	Hela-S3	cervix:	n/a	n/a
18	TBP	chr1:181002202-181003468	K562	blood:	n/a	n/a
19	YY1	chr1:181002864-181003348	GM12878	blood:	n/a	n/a
20	IRF3	chr1:181002873-181003273	GM12878	blood:	n/a	chr1:181002991-181003002 chr1:181002993-181003007
21	CREB1	chr1:181002848-181003266	A549	lung:	n/a	n/a
22	IRF3	chr1:181002851-181003223	Hela-S3	cervix:	n/a	chr1:181002991-181003002 chr1:181002993-181003007
23	EP300	chr1:181002289-181003517	K562	blood:	n/a	chr1:181002994-181003008 chr1:181002413-181002422 chr1:181003000-181003014
24	BHLHE40	chr1:181002809-181003234	GM12878	blood:	n/a	n/a
25	SP1	chr1:181002756-181003290	A549	lung:	n/a	n/a
26	HEY1	chr1:181002727-181003341	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:181002969-181003336	K562	blood:	n/a	n/a
28	POLR2A	chr1:181002227-181003490	Raji	blood:	n/a	n/a
29	CREB1	chr1:181002830-181003162	A549	lung:	n/a	n/a
30	MYC	chr1:181002874-181003283	MCF10A-Er-Src	breast:	n/a	n/a
31	YY1	chr1:181002929-181003379	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:181002893-181003333	GM12892	blood:	n/a	n/a
33	TBL1XR1	chr1:181002278-181003453	K562	blood:	n/a	n/a
34	POLR2A	chr1:181002829-181003335	GM12878	blood:	n/a	n/a
35	CHD2	chr1:181002236-181003370	GM12878	blood:	n/a	n/a
36	CREB1	chr1:181002740-181003460	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:181002207-181003384	MCF10A-Er-Src	breast:	n/a	n/a
38	USF2	chr1:181002248-181003414	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:181002777-181003461	GM12892	blood:	n/a	n/a
40	FOS	chr1:181002918-181003258	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:181002926-181003314	U87	brain:	n/a	n/a
42	BHLHE40	chr1:181001873-181003412	K562	blood:	n/a	n/a
43	NFYA	chr1:181002782-181003415	K562	blood:	n/a	n/a
44	STAT1	chr1:181002839-181003289	GM12878	blood:	n/a	n/a
45	MAFK	chr1:181002852-181003217	HepG2	liver:	n/a	chr1:181003025-181003041
46	CREB1	chr1:181002794-181003182	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:181002842-181003447	SK-N-MC	brain:	n/a	n/a
48	MAX	chr1:181002226-181003447	Hela-S3	cervix:	n/a	chr1:181003414-181003424
49	CREB1	chr1:181002658-181003340	GM12878	blood:	n/a	n/a
50	RELA	chr1:181002244-181003519	GM19099	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:181002976-181003026	IMR90	lung:	fetal
2	chr1:181002976-181003026	AG09309	skin:	n/a
3	chr1:181002976-181003026	Caco-2	colon:	n/a
4	chr1:181002976-181003026	HRE	kidney:	n/a
5	chr1:181002976-181003026	HIPEpiC	eye:	n/a
6	chr1:181002976-181003026	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:181002976-181003026	GM12892	blood:	n/a
8	chr1:181002976-181003026	ovcar-3	ovarian:	n/a
9	chr1:181002976-181003026	MCF10A-Er-Src	breast:	n/a
10	chr1:181002976-181003026	NH-A	brain:	n/a
11	chr1:181002976-181003026	AoSMC	blood vessel:	n/a
12	chr1:181002976-181003026	NHBE	bronchial:	n/a
13	chr1:181002976-181003026	AG04449	skin:	fetal
14	chr1:181002976-181003026	CMK	blood:	n/a
15	chr1:181002976-181003026	GM12878	blood:	n/a
16	chr1:181002976-181003026	AG04450	lung:	fetal
17	chr1:181002976-181003026	PrEC	prostate:	n/a
18	chr1:181002976-181003026	HUVEC	blood vessel:	n/a
19	chr1:181002976-181003026	NB4	blood:	n/a
20	chr1:181002976-181003026	HRPEpiC	eye:	n/a
21	chr1:181002976-181003026	K562	blood:	n/a
22	chr1:181002976-181003026	HNPCEpiC	eye:	n/a
23	chr1:181002976-181003026	GM06990	blood:	n/a
24	chr1:181002976-181003026	HL-60	blood:	n/a
25	chr1:181002976-181003026	HCF	heart:	n/a
26	chr1:181002976-181003026	HCPEpiC	choroid plexus:	n/a
27	chr1:181002976-181003026	HEEpiC	esophagus:	n/a
28	chr1:181002976-181003026	HRCEpiC	kidney:	n/a
29	chr1:181002976-181003026	BE2_C	brain:	n/a
30	chr1:181002976-181003026	RPTEC	kidney:	n/a
31	chr1:181002976-181003026	HMEC	breast:	n/a
32	chr1:181002976-181003026	GM12891	blood:	n/a
33	chr1:181002976-181003026	GM19239	blood:	n/a
34	chr1:181002976-181003026	Hepatocyte	liver:	n/a
35	chr1:181002976-181003026	NT2-D1	testis:	n/a
36	chr1:181002976-181003026	H1-hESC	embryonic stem cell:	embryo
37	chr1:181002976-181003026	SKMC	muscle:	n/a
38	chr1:181002976-181003026	LNCaP	prostate:	n/a
39	chr1:181002976-181003026	SK-N-MC	brain:	n/a
40	chr1:181002976-181003026	ECC-1	luminal epithelium:	n/a
41	chr1:181002976-181003026	BJ	skin:	n/a
42	chr1:181002976-181003026	MCF-7	breast:	n/a
43	chr1:181002976-181003026	HCM	heart:	n/a
44	chr1:181002976-181003026	A549	lung:	n/a
45	chr1:181002976-181003026	AG10803	skin:	n/a
46	chr1:181002976-181003026	ProgFib	skin:	n/a
47	chr1:181002976-181003026	SK-N-SH_RA	brain:	n/a
48	chr1:181002976-181003026	PANC-1	pancreas:	n/a
49	chr1:181002976-181003026	HEK293	kidney:	embryo
50	chr1:181002976-181003026	HCT-116	colon:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180997971..181011022-chr1:181054648..181063248,33	K562	blood:
2	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
3	chr1:181001424..181004556-chr1:181055509..181058224,3	MCF-7	breast:
4	chr1:180990026..180993643-chr1:180999560..181003140,8	K562	blood:

No data

Variant related genes	Relation type
MR1	TF binding region
MR1	CpG island
ENSG00000162783	Chromatin interaction
ENSG00000135823	Chromatin interaction
ENSG00000272198	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10910847	1.00[AFR][1000 genomes]
rs11487341	1.00[AFR][1000 genomes]
rs57728541	1.00[AFR][1000 genomes]

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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180992200-181003600	Weak transcription	Gastric	stomach
2	chr1:181001600-181003000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:181001800-181003200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:181001800-181005800	Enhancers	Spleen	Spleen
5	chr1:181002000-181006200	Enhancers	Small Intestine	intestine
6	chr1:181002200-181003000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr1:181002200-181003000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:181002200-181003000	Enhancers	Pancreas	Pancrea
9	chr1:181002200-181003000	Flanking Active TSS	Dnd41	blood
10	chr1:181002200-181003000	Flanking Active TSS	K562	blood
11	chr1:181002200-181003000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:181002200-181004000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:181002200-181004200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:181002400-181003000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:181002400-181003000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr1:181002400-181003000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:181002400-181003000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:181002400-181003000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:181002400-181003000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:181002400-181003000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:181002400-181003000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:181002400-181003000	Flanking Active TSS	A549	lung
23	chr1:181002400-181003000	Flanking Active TSS	GM12878-XiMat	blood
24	chr1:181002400-181003800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:181002400-181004000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:181002400-181004000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr1:181002400-181004000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:181002400-181004000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:181002400-181004000	Flanking Active TSS	Hela-S3	cervix
30	chr1:181002400-181004000	Flanking Active TSS	NHEK	skin
31	chr1:181002400-181004200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:181002600-181003000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:181002600-181003000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr1:181002600-181003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:181002600-181003000	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr1:181002600-181003000	Flanking Active TSS	Fetal Thymus	thymus
37	chr1:181002600-181003000	Flanking Active TSS	NHLF	lung
38	chr1:181002600-181003200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:181002600-181003200	Active TSS	HepG2	liver
40	chr1:181002600-181003400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:181002600-181003400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:181002600-181003400	Flanking Active TSS	HUVEC	blood vessel
43	chr1:181002600-181003600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:181002600-181003600	Active TSS	Liver	Liver
45	chr1:181002600-181003600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:181002600-181003800	Active TSS	Fetal Muscle Trunk	muscle
47	chr1:181002600-181004000	Active TSS	Right Ventricle	heart
48	chr1:181002600-181004000	Flanking Active TSS	HMEC	breast
49	chr1:181002600-181012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:181002800-181003000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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