Variant report

Variant	rs7594852
Chromosome Location	chr2:113521754-113521755
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	MAX	chr2:113521673-113522592	H1-hESC	embryonic stem cell:	n/a	chr2:113521952-113521962
2	IRF1	chr2:113521642-113522667	K562	blood:	n/a	chr2:113521737-113521751
3	JUND	chr2:113521418-113522682	K562	blood:	n/a	chr2:113521960-113521971
4	MYBL2	chr2:113521316-113522763	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:113521493-113522784	GM12878	blood:	n/a	n/a
6	HEY1	chr2:113521443-113522774	HepG2	liver:	n/a	chr2:113522483-113522498
7	CTCF	chr2:113521680-113521830	HCPEpiC	choroid plexus:	n/a	n/a
8	MAX	chr2:113521700-113522640	GM12878	blood:	n/a	chr2:113521952-113521962
9	TBL1XR1	chr2:113521499-113522696	K562	blood:	n/a	n/a
10	SIN3A	chr2:113521105-113522723	H1-hESC	embryonic stem cell:	n/a	chr2:113522634-113522642
11	POLR2A	chr2:113521391-113522979	U87	brain:	n/a	n/a
12	GTF2F1	chr2:113521701-113521942	K562	blood:	n/a	n/a
13	POLR2A	chr2:113521598-113522693	HL-60	blood:	n/a	n/a
14	NR2F2	chr2:113521243-113522676	K562	blood:	n/a	n/a
15	MYC	chr2:113521595-113522687	K562	blood:	n/a	chr2:113521952-113521962
16	CREB1	chr2:113521707-113522745	HepG2	liver:	n/a	n/a
17	CHD2	chr2:113521672-113522655	Hela-S3	cervix:	n/a	n/a
18	SP1	chr2:113521726-113522734	A549	lung:	n/a	chr2:113521739-113521751 chr2:113522293-113522304 chr2:113521739-113521751 chr2:113521953-113521962 chr2:113521740-113521754 chr2:113521952-113521961 chr2:113521741-113521750 chr2:113521740-113521750 chr2:113521740-113521749
19	PML	chr2:113521672-113522673	K562	blood:	n/a	n/a
20	E2F4	chr2:113521607-113522608	K562	blood:	n/a	chr2:113522294-113522306 chr2:113521741-113521750
21	FOXM1	chr2:113521560-113522779	ECC-1	luminal epithelium:	n/a	n/a
22	ELF1	chr2:113521601-113522640	GM12878	blood:	n/a	chr2:113521766-113521778
23	MYC	chr2:113521611-113522857	K562	blood:	n/a	chr2:113521952-113521962
24	POLR2A	chr2:113521651-113521994	K562	blood:	n/a	n/a
25	POLR2A	chr2:113521673-113522728	GM19193	blood:	n/a	n/a
26	MYC	chr2:113521652-113521839	MCF10A-Er-Src	breast:	n/a	n/a
27	MXI1	chr2:113521391-113522646	HepG2	liver:	n/a	n/a
28	FOXM1	chr2:113521578-113522897	SK-N-SH	brain:	n/a	n/a
29	UBTF	chr2:113521576-113521846	K562	blood:	n/a	n/a
30	POLR2A	chr2:113521597-113522883	Hela-S3	cervix:	n/a	n/a
31	TCF7L2	chr2:113521675-113522745	Hela-S3	cervix:	n/a	n/a
32	YY1	chr2:113521604-113522658	GM12892	blood:	n/a	n/a
33	STAT5A	chr2:113521753-113522325	GM12878	blood:	n/a	chr2:113521911-113521918 chr2:113521944-113521956
34	SIN3AK20	chr2:113521711-113522573	PFSK-1	brain:	n/a	n/a
35	CTCF	chr2:113521720-113521870	A549	lung:	n/a	n/a
36	MAX	chr2:113521477-113522815	HepG2	liver:	n/a	chr2:113521952-113521962
37	HMGN3	chr2:113521630-113522679	K562	blood:	n/a	n/a
38	MAX	chr2:113521282-113522809	A549	lung:	n/a	chr2:113521952-113521962
39	MAX	chr2:113521544-113522665	SK-N-SH	brain:	n/a	chr2:113521952-113521962
40	SIN3AK20	chr2:113521664-113522753	HCT-116	colon:	n/a	n/a
41	SIN3AK20	chr2:113521546-113522810	HCT-116	colon:	n/a	n/a
42	POLR2A	chr2:113521680-113521920	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr2:113521658-113521888	K562	blood:	n/a	n/a
44	POLR2A	chr2:113521588-113522833	PANC-1	pancreas:	n/a	n/a
45	MAX	chr2:113521574-113522790	ECC-1	luminal epithelium:	n/a	chr2:113521952-113521962
46	ZBTB7A	chr2:113521613-113522615	K562	blood:	n/a	n/a
47	POLR2A	chr2:113521655-113522629	MCF-7	breast:	n/a	n/a
48	CREB1	chr2:113521554-113522780	K562	blood:	n/a	n/a
49	POLR2A	chr2:113521599-113522796	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr2:113521347-113522795	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113512694..113515330-chr2:113521707..113523749,2	K562	blood:
2	chr2:113402414..113404382-chr2:113520815..113523652,2	MCF-7	breast:
3	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:
4	chr12:25403381..25404341-chr2:113521480..113522326,2	Hela-S3	cervix:
5	chr2:113512278..113514695-chr2:113520095..113522998,4	MCF-7	breast:

Variant related genes	Relation type
CKAP2L	TF binding region
ENSG00000169607	Chromatin interaction
ENSG00000133703	Chromatin interaction
ENSG00000115008	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10187872	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193063	0.81[EUR][1000 genomes]
rs10200192	0.97[EUR][1000 genomes]
rs11123148	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12463996	0.82[EUR][1000 genomes]
rs12622683	0.95[EUR][1000 genomes]
rs13013602	0.91[EUR][1000 genomes]
rs13015273	0.94[EUR][1000 genomes]
rs13016817	0.94[EUR][1000 genomes]
rs13019249	0.94[EUR][1000 genomes]
rs13026263	0.96[EUR][1000 genomes]
rs13036237	0.93[EUR][1000 genomes]
rs13382217	0.93[EUR][1000 genomes]
rs17649681	0.94[EUR][1000 genomes]
rs2138606	0.89[ASN][1000 genomes]
rs2856838	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2862226	0.92[EUR][1000 genomes]
rs3783547	0.81[AMR][1000 genomes]
rs3811040	0.94[EUR][1000 genomes]
rs3827761	0.94[EUR][1000 genomes]
rs4261731	0.91[EUR][1000 genomes]
rs4848298	0.97[EUR][1000 genomes]
rs4849118	0.94[EUR][1000 genomes]
rs55762606	0.94[EUR][1000 genomes]
rs58694576	0.82[EUR][1000 genomes]
rs6706663	0.80[EUR][1000 genomes]
rs6712572	0.97[EUR][1000 genomes]
rs6721044	0.80[EUR][1000 genomes]
rs7577241	0.80[EUR][1000 genomes]
rs7591704	0.98[EUR][1000 genomes]
rs7599690	0.95[EUR][1000 genomes]
rs7607470	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113519800-113523000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:113520200-113522800	Active TSS	GM12878-XiMat	blood
3	chr2:113520400-113521800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:113520600-113522200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:113520800-113521800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr2:113520800-113522000	Flanking Active TSS	HUVEC	blood vessel
7	chr2:113520800-113522800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:113520800-113523000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:113520800-113523000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:113520800-113523200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:113520800-113523200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:113520800-113523200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:113521000-113522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:113521000-113522000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113521000-113522000	Flanking Active TSS	Fetal Thymus	thymus
16	chr2:113521000-113522800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr2:113521000-113522800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:113521000-113522800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:113521000-113522800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:113521000-113522800	Active TSS	A549	lung
21	chr2:113521200-113521800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:113521200-113521800	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr2:113521200-113521800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr2:113521200-113522000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:113521200-113522000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr2:113521200-113522000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:113521200-113522000	Flanking Active TSS	Fetal Stomach	stomach
28	chr2:113521200-113522200	Flanking Active TSS	Placenta	Placenta
29	chr2:113521200-113522600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:113521200-113522800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:113521200-113522800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:113521200-113522800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:113521200-113522800	Active TSS	Esophagus	oesophagus
34	chr2:113521200-113523000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:113521200-113523000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:113521200-113523000	Active TSS	Fetal Kidney	kidney
37	chr2:113521200-113523000	Active TSS	NHDF-Ad	bronchial
38	chr2:113521200-113523200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:113521400-113521800	Enhancers	Aorta	Aorta
40	chr2:113521400-113521800	Enhancers	Brain Angular Gyrus	brain
41	chr2:113521400-113521800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr2:113521400-113521800	Flanking Active TSS	Fetal Lung	lung
43	chr2:113521400-113521800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr2:113521400-113521800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:113521400-113521800	Flanking Active TSS	Thymus	Thymus
46	chr2:113521400-113522000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:113521400-113522000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr2:113521400-113522000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:113521400-113522200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:113521400-113522200	Flanking Active TSS	Primary T cells from cord blood	blood

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