Variant report

Variant	rs373032024
Chromosome Location	chr2:113402868-113402869
allele	C/G
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	TAF1	chr2:113402690-113402911	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr2:113402778-113404009	A549	lung:	n/a	n/a
8	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
9	SIN3AK20	chr2:113402628-113404276	PANC-1	pancreas:	n/a	n/a
10	HEY1	chr2:113401600-113404264	HepG2	liver:	n/a	chr2:113403494-113403509 chr2:113403936-113403951 chr2:113403952-113403967 chr2:113403956-113403971 chr2:113403984-113403993
11	POLR2A	chr2:113402006-113404718	IMR90	lung:	n/a	n/a
12	NR2F2	chr2:113401604-113404921	HepG2	liver:	n/a	n/a
13	CEBPD	chr2:113402731-113403076	HepG2	liver:	n/a	n/a
14	MYC	chr2:113402722-113403591	K562	blood:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
15	POLR2A	chr2:113402610-113404242	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr2:113402702-113402891	A549	lung:	n/a	n/a
17	POLR2A	chr2:113402635-113405101	K562	blood:	n/a	n/a
18	POLR2A	chr2:113402659-113402918	A549	lung:	n/a	n/a
19	POLR2A	chr2:113402419-113404995	GM12891	blood:	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	BHLHE40	chr2:113402580-113404182	GM12878	blood:	n/a	chr2:113403746-113403762
31	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
32	RELA	chr2:113402665-113403681	GM18951	blood:	n/a	n/a
33	CBX3	chr2:113402287-113403745	K562	blood:	n/a	n/a
34	MAX	chr2:113402680-113403646	Hela-S3	cervix:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
35	NFIC	chr2:113402612-113403724	HepG2	liver:	n/a	n/a
36	ETS1	chr2:113402865-113403665	K562	blood:	n/a	n/a
37	MAX	chr2:113402651-113403765	H1-hESC	embryonic stem cell:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
38	MYC	chr2:113402856-113403570	HUVEC	blood vessel:	n/a	chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403304-113403319
39	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
40	FOXA2	chr2:113402851-113403652	A549	lung:	n/a	n/a
41	USF1	chr2:113402723-113403625	SK-N-SH_RA	brain:	n/a	n/a
42	TEAD4	chr2:113401858-113403468	ECC-1	luminal epithelium:	n/a	n/a
43	EP300	chr2:113401905-113403928	HepG2	liver:	n/a	chr2:113403874-113403890 chr2:113403319-113403335 chr2:113403746-113403762
44	SIN3AK20	chr2:113402727-113404286	K562	blood:	n/a	n/a
45	USF2	chr2:113402588-113403603	K562	blood:	n/a	chr2:113402916-113402927
46	POLR2A	chr2:113402603-113404908	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr2:113402576-113404223	GM12892	blood:	n/a	n/a
48	YY1	chr2:113402615-113403961	SK-N-SH_RA	brain:	n/a	chr2:113403915-113403929 chr2:113403786-113403800 chr2:113403877-113403891 chr2:113403792-113403801 chr2:113403944-113403955 chr2:113403528-113403542 chr2:113403494-113403505
49	MXI1	chr2:113402571-113403905	K562	blood:	n/a	chr2:113403307-113403316
50	CREB1	chr2:113402535-113403771	HepG2	liver:	n/a	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	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
22	chr2:113032268..113033936-chr2:113402354..113404096,2	K562	blood:
23	chr2:113339547..113342143-chr2:113401632..113406213,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2L-1	chr2:113402609-113402900	XLOC_002275
2	lnc-SLC20A1-1	chr2:113402607-113402992	XLOC_001627
3	lnc-CKAP2L-1	chr2:113401676-113403267	ENSG00000237753
4	lnc-CKAP2L-1	chr2:113401556-113403368	NONHSAT073714
5	lnc-CKAP2L-1	chr2:113402475-113403268	NONHSAT073715

Variant related genes	Relation type
SLC20A1	TF binding region
ENSG00000231747	Chromatin interaction
ENSG00000153214	Chromatin interaction
ENSG00000166803	Chromatin interaction
ENSG00000103671	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000102144	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000243389	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000228251	Chromatin interaction
ENSG00000169607	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	chr2:113402000-113403000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr2:113402000-113403000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr2:113402000-113403000	Flanking Active TSS	NHEK	skin
5	chr2:113402000-113403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:113402000-113403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:113402000-113403200	Flanking Active TSS	HUVEC	blood vessel
8	chr2:113402000-113404800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:113402000-113405000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr2:113402000-113405000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:113402200-113403000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:113402200-113403000	Flanking Active TSS	Fetal Thymus	thymus
13	chr2:113402200-113403200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr2:113402200-113403200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr2:113402200-113404400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:113402200-113404400	Active TSS	Left Ventricle	heart
17	chr2:113402200-113405200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:113402400-113403000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:113402400-113403000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:113402400-113403000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:113402400-113403000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr2:113402400-113403000	Flanking Active TSS	Placenta	Placenta
23	chr2:113402400-113403200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr2:113402400-113403400	Active TSS	Aorta	Aorta
25	chr2:113402400-113404400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr2:113402400-113404400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:113402400-113404400	Active TSS	Fetal Brain Female	brain
28	chr2:113402400-113404400	Active TSS	Psoas Muscle	Psoas
29	chr2:113402400-113404800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:113402600-113403000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:113402600-113403000	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr2:113402600-113403000	Active TSS	Fetal Stomach	stomach
33	chr2:113402600-113403600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:113402600-113404000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:113402600-113404400	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:113402600-113404400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr2:113402600-113404400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:113402600-113404400	Active TSS	Colon Smooth Muscle	Colon
39	chr2:113402600-113404400	Active TSS	Fetal Kidney	kidney
40	chr2:113402600-113404400	Active TSS	Lung	lung
41	chr2:113402600-113404400	Active TSS	Pancreas	Pancrea
42	chr2:113402600-113404400	Active TSS	Rectal Smooth Muscle	rectum
43	chr2:113402600-113404400	Active TSS	Right Ventricle	heart
44	chr2:113402600-113404400	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr2:113402600-113404400	Active TSS	Small Intestine	intestine
46	chr2:113402600-113404400	Active TSS	Spleen	Spleen
47	chr2:113402600-113404400	Active TSS	A549	lung
48	chr2:113402600-113404600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:113402600-113404600	Active TSS	Gastric	stomach
50	chr2:113402600-113404600	Active TSS	Ovary	ovary

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