Variant report

Variant	rs575976494
Chromosome Location	chr2:113403006-113403007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr2:113402747-113403992	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:113402706-113403914	K562	blood:	n/a	n/a
3	HCFC1	chr2:113401734-113404936	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:113402569-113403760	HepG2	liver:	n/a	n/a
5	MYC	chr2:113402833-113403247	Hela-S3	cervix:	n/a	n/a
6	CREB1	chr2:113402778-113404009	A549	lung:	n/a	n/a
7	YY1	chr2:113402638-113404290	GM12878	blood:	n/a	chr2:113403915-113403929 chr2:113403786-113403800 chr2:113403877-113403891 chr2:113403792-113403801 chr2:113403944-113403955 chr2:113403528-113403542 chr2:113404124-113404135 chr2:113403494-113403505
8	BACH1	chr2:113402870-113404599	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZEB1	chr2:113402964-113403629	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr2:113402628-113404276	PANC-1	pancreas:	n/a	n/a
11	HEY1	chr2:113401600-113404264	HepG2	liver:	n/a	chr2:113403494-113403509 chr2:113403936-113403951 chr2:113403952-113403967 chr2:113403956-113403971 chr2:113403984-113403993
12	POLR2A	chr2:113402006-113404718	IMR90	lung:	n/a	n/a
13	NR2F2	chr2:113401604-113404921	HepG2	liver:	n/a	n/a
14	CEBPD	chr2:113402731-113403076	HepG2	liver:	n/a	n/a
15	MYC	chr2:113402722-113403591	K562	blood:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
16	POLR2A	chr2:113402610-113404242	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr2:113402635-113405101	K562	blood:	n/a	n/a
18	POLR2A	chr2:113402419-113404995	GM12891	blood:	n/a	n/a
19	REST	chr2:113402914-113403218	A549	lung:	n/a	n/a
20	RCOR1	chr2:113402708-113403805	GM12878	blood:	n/a	n/a
21	JUND	chr2:113402824-113403845	A549	lung:	n/a	chr2:113403358-113403367 chr2:113403704-113403712
22	FOSL1	chr2:113401751-113403902	HCT-116	colon:	n/a	chr2:113403358-113403367 chr2:113403704-113403712
23	NR2F2	chr2:113401628-113403847	HepG2	liver:	n/a	n/a
24	ZNF217	chr2:113402723-113403264	MCF-7	breast:	n/a	n/a
25	HEY1	chr2:113402617-113405042	K562	blood:	n/a	chr2:113403494-113403509 chr2:113403936-113403951 chr2:113403952-113403967 chr2:113403956-113403971 chr2:113403984-113403993
26	RFX5	chr2:113401934-113405532	Hela-S3	cervix:	n/a	chr2:113405084-113405099 chr2:113405086-113405103 chr2:113403357-113403366
27	POLR2A	chr2:113401900-113405604	HUVEC	blood vessel:	n/a	n/a
28	TCF3	chr2:113402654-113404081	GM12878	blood:	n/a	n/a
29	USF1	chr2:113402584-113403723	ECC-1	luminal epithelium:	n/a	n/a
30	TEAD4	chr2:113402946-113403686	H1-hESC	embryonic stem cell:	n/a	n/a
31	BHLHE40	chr2:113402580-113404182	GM12878	blood:	n/a	chr2:113403746-113403762
32	MAX	chr2:113402144-113404297	ECC-1	luminal epithelium:	n/a	chr2:113403983-113403993 chr2:113403984-113403993 chr2:113403983-113403994 chr2:113403984-113403994 chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403985-113403992 chr2:113403304-113403319 chr2:113403984-113403993
33	RELA	chr2:113402665-113403681	GM18951	blood:	n/a	n/a
34	CBX3	chr2:113402287-113403745	K562	blood:	n/a	n/a
35	MAX	chr2:113402680-113403646	Hela-S3	cervix:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
36	NFIC	chr2:113402612-113403724	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:113402940-113404072	A549	lung:	n/a	n/a
38	ETS1	chr2:113402865-113403665	K562	blood:	n/a	n/a
39	MAX	chr2:113402651-113403765	H1-hESC	embryonic stem cell:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
40	MYC	chr2:113402856-113403570	HUVEC	blood vessel:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
41	RAD21	chr2:113402983-113403768	A549	lung:	n/a	n/a
42	MAX	chr2:113402602-113404284	A549	lung:	n/a	chr2:113403983-113403993 chr2:113403984-113403993 chr2:113403983-113403994 chr2:113403984-113403994 chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403985-113403992 chr2:113403304-113403319 chr2:113403984-113403993
43	FOXA2	chr2:113402851-113403652	A549	lung:	n/a	n/a
44	USF1	chr2:113402723-113403625	SK-N-SH_RA	brain:	n/a	n/a
45	TEAD4	chr2:113401858-113403468	ECC-1	luminal epithelium:	n/a	n/a
46	EP300	chr2:113401905-113403928	HepG2	liver:	n/a	chr2:113403874-113403890 chr2:113403319-113403335 chr2:113403746-113403762
47	SIN3AK20	chr2:113402727-113404286	K562	blood:	n/a	n/a
48	POLR2A	chr2:113402939-113403755	GM12891	blood:	n/a	n/a
49	USF2	chr2:113402588-113403603	K562	blood:	n/a	chr2:113402916-113402927
50	MEF2A	chr2:113402902-113403780	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113403002-113403052	Hela-S3	cervix:	n/a
2	chr2:113403002-113403052	NT2-D1	testis:	n/a
3	chr2:113403002-113403052	HRPEpiC	eye:	n/a
4	chr2:113403002-113403052	MCF10A-Er-Src	breast:	n/a
5	chr2:113403002-113403052	SKMC	muscle:	n/a
6	chr2:113403002-113403052	ProgFib	skin:	n/a
7	chr2:113403002-113403052	HUVEC	blood vessel:	n/a
8	chr2:113403002-113403052	Jurkat	blood:	n/a
9	chr2:113403002-113403052	HL-60	blood:	n/a
10	chr2:113403002-113403052	HEK293	kidney:	embryo
11	chr2:113403002-113403052	AG04450	lung:	fetal
12	chr2:113403002-113403052	GM12891	blood:	n/a
13	chr2:113403002-113403052	AG10803	skin:	n/a
14	chr2:113403002-113403052	Caco-2	colon:	n/a
15	chr2:113403002-113403052	HRCEpiC	kidney:	n/a
16	chr2:113403002-113403052	LNCaP	prostate:	n/a
17	chr2:113403002-113403052	HepG2	liver:	n/a
18	chr2:113403002-113403052	IMR90	lung:	fetal
19	chr2:113403002-113403052	AG09319	gingival:	n/a
20	chr2:113403002-113403052	HCM	heart:	n/a
21	chr2:113403002-113403052	MCF-7	breast:	n/a
22	chr2:113403002-113403052	HCF	heart:	n/a
23	chr2:113403002-113403052	RPTEC	kidney:	n/a
24	chr2:113403002-113403052	AG04449	skin:	fetal
25	chr2:113403002-113403052	PFSK-1	brain:	n/a
26	chr2:113403002-113403052	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:113403002-113403052	SK-N-SH	brain:	n/a
28	chr2:113403002-113403052	CMK	blood:	n/a
29	chr2:113403002-113403052	Hepatocyte	liver:	n/a
30	chr2:113403002-113403052	SK-N-MC	brain:	n/a
31	chr2:113403002-113403052	NHDF-neo	bronchial:	n/a
32	chr2:113403002-113403052	AoSMC	blood vessel:	n/a
33	chr2:113403002-113403052	HEEpiC	esophagus:	n/a
34	chr2:113403002-113403052	HCPEpiC	choroid plexus:	n/a
35	chr2:113403002-113403052	A549	lung:	n/a
36	chr2:113403002-113403052	T-47D	breast:	n/a
37	chr2:113403002-113403052	K562	blood:	n/a
38	chr2:113403002-113403052	SAEC	small airway:	n/a
39	chr2:113403002-113403052	BE2_C	brain:	n/a
40	chr2:113403002-113403052	NHBE	bronchial:	n/a
41	chr2:113403002-113403052	GM12878	blood:	n/a
42	chr2:113403002-113403052	H1-hESC	embryonic stem cell:	embryo
43	chr2:113403002-113403052	PrEC	prostate:	n/a
44	chr2:113403002-113403052	HCT-116	colon:	n/a
45	chr2:113403002-113403052	GM12892	blood:	n/a
46	chr2:113403002-113403052	GM19239	blood:	n/a
47	chr2:113403002-113403052	NH-A	brain:	n/a
48	chr2:113403002-113403052	HAEpiC	amniotic membrane:	n/a
49	chr2:113403002-113403052	HIPEpiC	eye:	n/a
50	chr2:113403002-113403052	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113339547..113343883-chr2:113402286..113405078,6	K562	blood:
2	chr2:113402780..113403558-chr8:101964407..101965358,2	Hela-S3	cervix:
3	chr2:113298042..113299646-chr2:113402346..113405215,2	K562	blood:
4	chr2:112811018..112813475-chr2:113401964..113404333,2	K562	blood:
5	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
6	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
7	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
8	chr2:113031185..113034291-chr2:113402354..113405026,3	K562	blood:
9	chr2:113346825..113348931-chr2:113402265..113404788,2	MCF-7	breast:
10	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
11	chr2:113400575..113405879-chr2:113475243..113481233,15	K562	blood:
12	chr2:113400910..113403720-chr2:113487016..113489171,3	K562	blood:
13	chr2:113340437..113343949-chr2:113401268..113406617,9	MCF-7	breast:
14	chr15:64679349..64679958-chr2:113402741..113403595,2	NB4	blood:
15	chr2:113298010..113299910-chr2:113402044..113405043,2	MCF-7	breast:
16	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
17	chr2:113345940..113348650-chr2:113401824..113404479,3	MCF-7	breast:
18	chr2:113402862..113403733-chrX:77358921..77359879,2	HCT-116	colon:
19	chr2:113297646..113299646-chr2:113402192..113403846,2	K562	blood:
20	chr2:113340479..113344233-chr2:113401874..113407323,6	MCF-7	breast:
21	chr2:113402977..113403864-chr8:134309881..134310413,2	Hela-S3	cervix:
22	chr17:80055916..80056452-chr2:113402977..113403764,2	Hela-S3	cervix:
23	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
24	chr2:113032268..113033936-chr2:113402354..113404096,2	K562	blood:
25	chr1:37939793..37940776-chr2:113402998..113403567,2	Hela-S3	cervix:
26	chr2:113339547..113342143-chr2:113401632..113406213,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2L-1	chr2:113401676-113403267	ENSG00000237753
2	lnc-CKAP2L-1	chr2:113401556-113403368	NONHSAT073714
3	lnc-CKAP2L-1	chr2:113402475-113403268	NONHSAT073715

Variant related genes	Relation type
SLC20A1	TF binding region
SLC20A1	CpG island
ENSG00000125630	Chromatin interaction
ENSG00000103671	Chromatin interaction
ENSG00000228251	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000243389	Chromatin interaction
ENSG00000166803	Chromatin interaction
ENSG00000231747	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000169710	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000153214	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000102144	Chromatin interaction
ENSG00000104419	Chromatin interaction
ENSG00000233621	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	esv3335204	chr2:113402081-113405429	Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv3329842	chr2:113402506-113405054	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113401800-113403200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:113402000-113403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:113402000-113403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:113402000-113403200	Flanking Active TSS	HUVEC	blood vessel
5	chr2:113402000-113404800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:113402000-113405000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:113402000-113405000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:113402200-113403200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr2:113402200-113403200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:113402200-113404400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:113402200-113404400	Active TSS	Left Ventricle	heart
12	chr2:113402200-113405200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:113402400-113403200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr2:113402400-113403400	Active TSS	Aorta	Aorta
15	chr2:113402400-113404400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:113402400-113404400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:113402400-113404400	Active TSS	Fetal Brain Female	brain
18	chr2:113402400-113404400	Active TSS	Psoas Muscle	Psoas
19	chr2:113402400-113404800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:113402600-113403600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:113402600-113404000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:113402600-113404400	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:113402600-113404400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr2:113402600-113404400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:113402600-113404400	Active TSS	Colon Smooth Muscle	Colon
26	chr2:113402600-113404400	Active TSS	Fetal Kidney	kidney
27	chr2:113402600-113404400	Active TSS	Lung	lung
28	chr2:113402600-113404400	Active TSS	Pancreas	Pancrea
29	chr2:113402600-113404400	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:113402600-113404400	Active TSS	Right Ventricle	heart
31	chr2:113402600-113404400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr2:113402600-113404400	Active TSS	Small Intestine	intestine
33	chr2:113402600-113404400	Active TSS	Spleen	Spleen
34	chr2:113402600-113404400	Active TSS	A549	lung
35	chr2:113402600-113404600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:113402600-113404600	Active TSS	Gastric	stomach
37	chr2:113402600-113404600	Active TSS	Ovary	ovary
38	chr2:113402600-113404800	Active TSS	Esophagus	oesophagus
39	chr2:113402600-113405000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:113402600-113405200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:113402600-113405600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:113402800-113403200	Active TSS	Fetal Heart	heart
43	chr2:113402800-113403600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:113402800-113403600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:113402800-113403800	Active TSS	Thymus	Thymus
46	chr2:113402800-113404000	Active TSS	Primary B cells from peripheral blood	blood
47	chr2:113402800-113404000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr2:113402800-113404000	Active TSS	Colonic Mucosa	Colon
49	chr2:113402800-113404000	Weak transcription	Fetal Brain Male	brain
50	chr2:113402800-113404000	Active TSS	Skeletal Muscle Female	skeletal muscle

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