Variant report

Variant	rs552663884
Chromosome Location	chr1:76080313-76080314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:76080279-76080338	K562	blood:	n/a	n/a
2	MAX	chr1:76080193-76080985	HepG2	liver:	n/a	n/a
3	BACH1	chr1:76080097-76080757	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:76080153-76080901	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:76080300-76080450	A549	lung:	n/a	n/a
6	JUND	chr1:76080167-76080618	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:76080237-76080790	A549	lung:	n/a	n/a
8	ATF1	chr1:76080039-76080344	K562	blood:	n/a	n/a
9	TBL1XR1	chr1:76080168-76080464	K562	blood:	n/a	n/a
10	TEAD4	chr1:76080024-76080431	K562	blood:	n/a	n/a
11	RAD21	chr1:76080087-76080350	SK-N-SH_RA	brain:	n/a	n/a
12	CEBPB	chr1:76080295-76080590	HepG2	liver:	n/a	n/a
13	MAX	chr1:76080235-76080911	A549	lung:	n/a	n/a
14	TBL1XR1	chr1:76080094-76080337	K562	blood:	n/a	n/a
15	TAL1	chr1:76079891-76080441	K562	blood:	n/a	chr1:76080201-76080219
16	MYC	chr1:76080183-76080431	K562	blood:	n/a	n/a
17	RAD21	chr1:76080143-76080806	H1-hESC	embryonic stem cell:	n/a	chr1:76080640-76080654
18	CTCF	chr1:76080190-76080336	K562	blood:	n/a	n/a
19	MAX	chr1:76080307-76080651	MCF-7	breast:	n/a	n/a
20	E2F6	chr1:76080152-76080836	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3AK20	chr1:76080298-76080723	SK-N-SH	brain:	n/a	n/a
22	MAX	chr1:76080130-76080651	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP4	chr1:76080310-76080844	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr1:76080252-76080726	K562	blood:	n/a	n/a
25	RAD21	chr1:76080130-76080769	SK-N-SH_RA	brain:	n/a	chr1:76080640-76080654
26	MXI1	chr1:76078645-76082977	SK-N-SH	brain:	n/a	chr1:76080753-76080768
27	RCOR1	chr1:76079989-76080661	K562	blood:	n/a	n/a
28	RAD21	chr1:76080167-76080366	K562	blood:	n/a	n/a
29	ZNF263	chr1:76080142-76082928	HEK293-T-REx	kidney:	n/a	chr1:76081515-76081524
30	GATA2	chr1:76080066-76080363	K562	blood:	n/a	n/a
31	CTCF	chr1:76080281-76080779	K562	blood:	n/a	n/a
32	CTCF	chr1:76080088-76080755	K562	blood:	n/a	n/a
33	MAX	chr1:76080313-76080804	SK-N-SH	brain:	n/a	n/a
34	GATA2	chr1:76080123-76081871	SH-SY5Y	brain:	n/a	n/a
35	CTCF	chr1:76080220-76080370	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr1:76080180-76080330	GM12871	blood:	n/a	n/a
37	KAP1	chr1:76080001-76080860	U2OS	brain:	n/a	n/a
38	REST	chr1:76080089-76083066	H1-neurons	neurons:	n/a	chr1:76081628-76081641 chr1:76082239-76082248 chr1:76082034-76082044 chr1:76082672-76082681 chr1:76080841-76080859 chr1:76081038-76081051 chr1:76080496-76080509
39	CTCF	chr1:76080136-76080786	H1-hESC	embryonic stem cell:	n/a	n/a
40	KAP1	chr1:76080079-76081236	HEK293	kidney:	n/a	n/a
41	ZMIZ1	chr1:76079927-76080521	K562	blood:	n/a	n/a
42	NR2F2	chr1:76080040-76080320	K562	blood:	n/a	n/a
43	E2F6	chr1:76080267-76080970	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr1:76080142-76080772	H1-hESC	embryonic stem cell:	n/a	chr1:76080640-76080654
45	TEAD4	chr1:76080004-76080388	K562	blood:	n/a	n/a
46	SMC3	chr1:76080135-76080712	K562	blood:	n/a	n/a
47	ZNF143	chr1:76080207-76080758	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:76080180-76080330	SK-N-SH_RA	brain:	n/a	n/a
49	MAX	chr1:76080175-76080927	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr1:76080123-76080858	H1-hESC	embryonic stem cell:	n/a	chr1:76080640-76080654

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76080294-76080344	ECC-1	luminal epithelium:	n/a
2	chr1:76080294-76080344	NHBE	bronchial:	n/a
3	chr1:76080294-76080344	GM12892	blood:	n/a
4	chr1:76080294-76080344	AG09309	skin:	n/a
5	chr1:76080294-76080344	HRCEpiC	kidney:	n/a
6	chr1:76080294-76080344	NT2-D1	testis:	n/a
7	chr1:76080294-76080344	U87	brain:	n/a
8	chr1:76080294-76080344	SAEC	small airway:	n/a
9	chr1:76080294-76080344	PFSK-1	brain:	n/a
10	chr1:76080294-76080344	CMK	blood:	n/a
11	chr1:76080294-76080344	HCPEpiC	choroid plexus:	n/a
12	chr1:76080294-76080344	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:76080294-76080344	T-47D	breast:	n/a
14	chr1:76080294-76080344	SK-N-SH_RA	brain:	n/a
15	chr1:76080294-76080344	HIPEpiC	eye:	n/a
16	chr1:76080294-76080344	PrEC	prostate:	n/a
17	chr1:76080294-76080344	SK-N-SH	brain:	n/a
18	chr1:76080294-76080344	HEK293	kidney:	embryo
19	chr1:76080294-76080344	HEEpiC	esophagus:	n/a
20	chr1:76080294-76080344	GM19239	blood:	n/a
21	chr1:76080294-76080344	HMEC	breast:	n/a
22	chr1:76080294-76080344	AG04450	lung:	fetal
23	chr1:76080294-76080344	NH-A	brain:	n/a
24	chr1:76080294-76080344	K562	blood:	n/a
25	chr1:76080294-76080344	NB4	blood:	n/a
26	chr1:76080294-76080344	HNPCEpiC	eye:	n/a
27	chr1:76080294-76080344	Hela-S3	cervix:	n/a
28	chr1:76080294-76080344	RPTEC	kidney:	n/a
29	chr1:76080294-76080344	HCT-116	colon:	n/a
30	chr1:76080294-76080344	H1-hESC	embryonic stem cell:	embryo
31	chr1:76080294-76080344	HepG2	liver:	n/a
32	chr1:76080294-76080344	MCF-7	breast:	n/a
33	chr1:76080294-76080344	IMR90	lung:	fetal
34	chr1:76080294-76080344	A549	lung:	n/a
35	chr1:76080294-76080344	HL-60	blood:	n/a
36	chr1:76080294-76080344	HAEpiC	amniotic membrane:	n/a
37	chr1:76080294-76080344	AG09319	gingival:	n/a
38	chr1:76080294-76080344	AG04449	skin:	fetal
39	chr1:76080294-76080344	PANC-1	pancreas:	n/a
40	chr1:76080294-76080344	MCF10A-Er-Src	breast:	n/a
41	chr1:76080294-76080344	ovcar-3	ovarian:	n/a
42	chr1:76080294-76080344	HCM	heart:	n/a
43	chr1:76080294-76080344	SK-N-MC	brain:	n/a
44	chr1:76080294-76080344	Caco-2	colon:	n/a
45	chr1:76080294-76080344	NHDF-neo	bronchial:	n/a
46	chr1:76080294-76080344	HCF	heart:	n/a
47	chr1:76080294-76080344	AoSMC	blood vessel:	n/a
48	chr1:76080294-76080344	AG10803	skin:	n/a
49	chr1:76080294-76080344	BJ	skin:	n/a
50	chr1:76080294-76080344	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:76070009..76076148-chr1:76078248..76081967,7	K562	blood:
2	chr1:76071710..76074403-chr1:76079679..76081378,2	K562	blood:
3	chr1:76079907..76082887-chr11:62607623..62609125,2	K562	blood:
4	chr1:76079906..76082887-chr11:62607618..62609123,2	K562	blood:
5	chr1:76080033..76082466-chr1:76250224..76251859,2	MCF-7	breast:
6	chr1:76079591..76081611-chr1:76189875..76191572,2	MCF-7	breast:
7	chr1:76066835..76069254-chr1:76079406..76081859,2	MCF-7	breast:
8	chr1:76079931..76081989-chr1:76083963..76086787,2	K562	blood:

No data

Variant related genes	Relation type
SLC44A5	TF binding region
SLC44A5	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000117054	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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv10284	chr1:76079955-76082780	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76078800-76080600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:76079400-76081400	Active TSS	Fetal Brain Male	brain
3	chr1:76079600-76080400	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr1:76079600-76080600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:76079800-76080400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr1:76079800-76080400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr1:76079800-76080400	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr1:76079800-76081200	Active TSS	Fetal Brain Female	brain
9	chr1:76079800-76082200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:76079800-76082600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:76080000-76080400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr1:76080000-76080600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr1:76080000-76080600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr1:76080000-76081400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr1:76080000-76082000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:76080000-76082200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:76080000-76082400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:76080000-76082600	Active TSS	Brain Anterior Caudate	brain
19	chr1:76080000-76082800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr1:76080000-76082800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:76080200-76080400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:76080200-76080400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:76080200-76080400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr1:76080200-76080400	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr1:76080200-76080400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:76080200-76080400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
27	chr1:76080200-76080400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
28	chr1:76080200-76080400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:76080200-76080400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:76080200-76080400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:76080200-76080400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:76080200-76080400	Enhancers	Aorta	Aorta
33	chr1:76080200-76080400	Bivalent Enhancer	Liver	Liver
34	chr1:76080200-76080400	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr1:76080200-76080400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr1:76080200-76080400	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr1:76080200-76080400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
38	chr1:76080200-76080400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr1:76080200-76080400	Bivalent/Poised TSS	Left Ventricle	heart
40	chr1:76080200-76080400	Enhancers	Ovary	ovary
41	chr1:76080200-76080400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
42	chr1:76080200-76080400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
43	chr1:76080200-76080400	Enhancers	Right Atrium	heart
44	chr1:76080200-76080400	Bivalent Enhancer	HSMMtube	muscle
45	chr1:76080200-76080600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:76080200-76080600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr1:76080200-76080600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:76080200-76080600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:76080200-76080600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:76080200-76080600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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