Variant report

Variant	rs1104764
Chromosome Location	chr2:233561743-233561744
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	USF1	chr2:233561495-233562639	HCT-116	colon:	n/a	chr2:233562546-233562562 chr2:233562244-233562260 chr2:233562008-233562019
2	MYC	chr2:233561742-233562416	MCF-7	breast:	n/a	chr2:233561846-233561856
3	HCFC1	chr2:233561615-233562410	K562	blood:	n/a	n/a
4	MYC	chr2:233561611-233562813	NB4	blood:	n/a	chr2:233561846-233561856
5	POLR2A	chr2:233561604-233562278	HepG2	liver:	n/a	n/a
6	HEY1	chr2:233561564-233561920	K562	blood:	n/a	n/a
7	E2F4	chr2:233561640-233562140	MCF10A-Er-Src	breast:	n/a	n/a
8	NRF1	chr2:233561631-233561959	HepG2	liver:	n/a	chr2:233561826-233561840 chr2:233561826-233561837
9	YY1	chr2:233561641-233562771	A549	lung:	n/a	n/a
10	REST	chr2:233561580-233562194	HepG2	liver:	n/a	chr2:233561801-233561811 chr2:233561763-233561772
11	POLR2A	chr2:233561578-233562470	NB4	blood:	n/a	n/a
12	NFIC	chr2:233561549-233562204	HepG2	liver:	n/a	n/a
13	TAF1	chr2:233561657-233562566	K562	blood:	n/a	n/a
14	JUND	chr2:233561555-233561912	H1-hESC	embryonic stem cell:	n/a	chr2:233561729-233561740 chr2:233561733-233561742 chr2:233561731-233561742
15	FOSL2	chr2:233561519-233561883	A549	lung:	n/a	chr2:233561729-233561740 chr2:233561733-233561742
16	USF1	chr2:233561652-233562418	K562	blood:	n/a	chr2:233562244-233562260 chr2:233562008-233562019
17	RUNX3	chr2:233561741-233562455	GM12878	blood:	n/a	n/a
18	USF1	chr2:233561578-233562614	ECC-1	luminal epithelium:	n/a	chr2:233562546-233562562 chr2:233562244-233562260 chr2:233562008-233562019
19	POLR2A	chr2:233561451-233562356	HUVEC	blood vessel:	n/a	n/a
20	MAFK	chr2:233561550-233562086	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:233561583-233562677	GM12892	blood:	n/a	n/a
22	BHLHE40	chr2:233561660-233562796	GM12878	blood:	n/a	chr2:233562546-233562562 chr2:233562244-233562260
23	POLR2A	chr2:233561514-233562802	Hela-S3	cervix:	n/a	n/a
24	IRF1	chr2:233561639-233562282	K562	blood:	n/a	chr2:233561843-233561857
25	MYC	chr2:233561224-233562931	A549	lung:	n/a	chr2:233561846-233561856
26	TAF1	chr2:233561659-233562141	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr2:233561388-233562488	A549	lung:	n/a	chr2:233561500-233561510
28	MXI1	chr2:233561588-233563013	HepG2	liver:	n/a	n/a
29	CCNT2	chr2:233561709-233562742	K562	blood:	n/a	n/a
30	TBP	chr2:233561694-233562200	GM12878	blood:	n/a	n/a
31	REST	chr2:233561422-233563158	H1-neurons	neurons:	n/a	chr2:233561801-233561811 chr2:233561763-233561772 chr2:233562223-233562236
32	USF1	chr2:233561663-233562426	SK-N-SH_RA	brain:	n/a	chr2:233562244-233562260 chr2:233562008-233562019
33	MAX	chr2:233561673-233562605	HepG2	liver:	n/a	chr2:233561846-233561856
34	POLR2A	chr2:233561570-233562765	GM19099	blood:	n/a	n/a
35	POLR2A	chr2:233561485-233562949	K562	blood:	n/a	n/a
36	POLR2A	chr2:233561606-233561873	GM12891	blood:	n/a	n/a
37	ZNF263	chr2:233561670-233562815	HEK293-T-REx	kidney:	n/a	n/a
38	POLR2A	chr2:233561649-233562403	GM12878	blood:	n/a	n/a
39	TAF1	chr2:233561461-233562863	ECC-1	luminal epithelium:	n/a	n/a
40	RCOR1	chr2:233561590-233562669	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:233561584-233562669	GM18526	blood:	n/a	n/a
42	POLR2A	chr2:233561624-233562428	K562	blood:	n/a	n/a
43	JUND	chr2:233561541-233562151	HepG2	liver:	n/a	chr2:233561729-233561740 chr2:233561733-233561742 chr2:233561731-233561742
44	RCOR1	chr2:233561510-233562125	GM12878	blood:	n/a	n/a
45	MAX	chr2:233561539-233562578	A549	lung:	n/a	chr2:233561846-233561856
46	FOS	chr2:233561585-233562034	MCF10A-Er-Src	breast:	n/a	chr2:233561729-233561740 chr2:233561733-233561742
47	EP300	chr2:233561469-233562028	K562	blood:	n/a	n/a
48	ELK1	chr2:233561610-233562111	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:233561636-233561888	A549	lung:	n/a	n/a
50	SP4	chr2:233561634-233562198	H1-hESC	embryonic stem cell:	n/a	chr2:233561972-233561983 chr2:233561949-233561960 chr2:233561881-233561897 chr2:233561843-233561859

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233561722-233561772	GM12891	blood:	n/a
2	chr2:233561722-233561772	SK-N-SH	brain:	n/a
3	chr2:233561722-233561772	AG09319	gingival:	n/a
4	chr2:233561722-233561772	HEK293	kidney:	embryo
5	chr2:233561722-233561772	GM12878	blood:	n/a
6	chr2:233561722-233561772	HRE	kidney:	n/a
7	chr2:233561722-233561772	NHDF-neo	bronchial:	n/a
8	chr2:233561722-233561772	Jurkat	blood:	n/a
9	chr2:233561722-233561772	HRCEpiC	kidney:	n/a
10	chr2:233561722-233561772	BJ	skin:	n/a
11	chr2:233561722-233561772	K562	blood:	n/a
12	chr2:233561722-233561772	GM12892	blood:	n/a
13	chr2:233561722-233561772	U87	brain:	n/a
14	chr2:233561722-233561772	HL-60	blood:	n/a
15	chr2:233561722-233561772	AG10803	skin:	n/a
16	chr2:233561722-233561772	HepG2	liver:	n/a
17	chr2:233561722-233561772	Hela-S3	cervix:	n/a
18	chr2:233561722-233561772	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:233561722-233561772	LNCaP	prostate:	n/a
20	chr2:233561722-233561772	Caco-2	colon:	n/a
21	chr2:233561722-233561772	ProgFib	skin:	n/a
22	chr2:233561722-233561772	NB4	blood:	n/a
23	chr2:233561722-233561772	GM19239	blood:	n/a
24	chr2:233561722-233561772	Hepatocyte	liver:	n/a
25	chr2:233561722-233561772	NHBE	bronchial:	n/a
26	chr2:233561722-233561772	SKMC	muscle:	n/a
27	chr2:233561722-233561772	HEEpiC	esophagus:	n/a
28	chr2:233561722-233561772	SK-N-MC	brain:	n/a
29	chr2:233561722-233561772	AG09309	skin:	n/a
30	chr2:233561722-233561772	HAEpiC	amniotic membrane:	n/a
31	chr2:233561722-233561772	MCF-7	breast:	n/a
32	chr2:233561722-233561772	A549	lung:	n/a
33	chr2:233561722-233561772	PANC-1	pancreas:	n/a
34	chr2:233561722-233561772	NH-A	brain:	n/a
35	chr2:233561722-233561772	GM06990	blood:	n/a
36	chr2:233561722-233561772	HCPEpiC	choroid plexus:	n/a
37	chr2:233561722-233561772	PrEC	prostate:	n/a
38	chr2:233561722-233561772	HUVEC	blood vessel:	n/a
39	chr2:233561722-233561772	H1-hESC	embryonic stem cell:	embryo
40	chr2:233561722-233561772	CMK	blood:	n/a
41	chr2:233561722-233561772	RPTEC	kidney:	n/a
42	chr2:233561722-233561772	AoSMC	blood vessel:	n/a
43	chr2:233561722-233561772	HCT-116	colon:	n/a
44	chr2:233561722-233561772	HCF	heart:	n/a
45	chr2:233561722-233561772	HRPEpiC	eye:	n/a
46	chr2:233561722-233561772	IMR90	lung:	fetal
47	chr2:233561722-233561772	AG04450	lung:	fetal
48	chr2:233561722-233561772	NT2-D1	testis:	n/a
49	chr2:233561722-233561772	ovcar-3	ovarian:	n/a
50	chr2:233561722-233561772	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:233561381..233562276-chr6:35227526..35228227,2	Hela-S3	cervix:
2	chr2:233542760..233544687-chr2:233561332..233564273,2	K562	blood:
3	chr2:233561154..233564737-chr2:233566503..233568685,5	K562	blood:
4	chr2:233496783..233498486-chr2:233560263..233562772,2	MCF-7	breast:
5	chr2:233560918..233562654-chr2:233567165..233569049,2	K562	blood:

Variant related genes	Relation type
GIGYF2	TF binding region
GIGYF2	CpG island
ENSG00000204120	Chromatin interaction
ENSG00000115468	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000239170	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10210953	0.81[EUR][1000 genomes]
rs1022329	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10427328	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078323	0.92[CEU][hapmap]
rs1083522	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs10933406	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11688166	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11689851	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11893358	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12105766	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12619195	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12999865	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13007579	0.89[CEU][hapmap]
rs13024330	0.88[CEU][hapmap]
rs13029336	0.83[JPT][hapmap]
rs1515961	0.83[JPT][hapmap]
rs17164	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1973675	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012423	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289911	0.89[CEU][hapmap]
rs2293780	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344611	0.83[EUR][1000 genomes]
rs2344613	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2675954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2675968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs283470	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283473	0.83[JPT][hapmap]
rs4144795	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4144797	0.88[EUR][1000 genomes]
rs4973563	0.89[CEU][hapmap]
rs4973564	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs62193269	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62193271	0.84[EUR][1000 genomes]
rs6704763	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6710294	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6716488	0.82[EUR][1000 genomes]
rs6717048	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6733495	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6739794	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs709937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs737027	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs748002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs778341	0.95[YRI][hapmap]
rs778370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs921055	0.88[CEU][hapmap]
rs938569	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233561200-233561800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:233561200-233561800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:233561200-233561800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr2:233561200-233561800	Enhancers	Fetal Heart	heart
5	chr2:233561200-233561800	Flanking Active TSS	Placenta	Placenta
6	chr2:233561200-233561800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr2:233561200-233561800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:233561200-233561800	Flanking Active TSS	Dnd41	blood
9	chr2:233561200-233561800	Flanking Active TSS	Hela-S3	cervix
10	chr2:233561200-233562800	Active TSS	Thymus	Thymus
11	chr2:233561400-233561800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:233561400-233561800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:233561400-233561800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:233561400-233561800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:233561400-233561800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:233561400-233561800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:233561400-233561800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr2:233561400-233561800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr2:233561400-233561800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:233561400-233561800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:233561400-233561800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:233561400-233561800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:233561400-233561800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:233561400-233561800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:233561400-233561800	Flanking Active TSS	Liver	Liver
26	chr2:233561400-233561800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:233561400-233561800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr2:233561400-233561800	Flanking Active TSS	Fetal Kidney	kidney
29	chr2:233561400-233561800	Flanking Active TSS	Fetal Lung	lung
30	chr2:233561400-233561800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr2:233561400-233561800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr2:233561400-233561800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:233561400-233561800	Flanking Active TSS	A549	lung
34	chr2:233561400-233561800	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:233561400-233561800	Flanking Active TSS	HepG2	liver
36	chr2:233561400-233561800	Flanking Active TSS	HMEC	breast
37	chr2:233561400-233561800	Flanking Active TSS	HUVEC	blood vessel
38	chr2:233561400-233561800	Flanking Active TSS	K562	blood
39	chr2:233561400-233561800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr2:233561400-233561800	Flanking Active TSS	NHEK	skin
41	chr2:233561400-233561800	Flanking Active TSS	NHLF	lung
42	chr2:233561400-233562000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:233561400-233562200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr2:233561400-233562200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:233561400-233562200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:233561400-233562200	Active TSS	Colonic Mucosa	Colon
47	chr2:233561400-233562600	Active TSS	Primary B cells from cord blood	blood
48	chr2:233561400-233562600	Active TSS	Primary T cells from cord blood	blood
49	chr2:233561400-233562600	Active TSS	Brain Angular Gyrus	brain
50	chr2:233561400-233562600	Active TSS	Rectal Mucosa Donor 29	rectum

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