Variant report

Variant	rs4075349
Chromosome Location	chr4:57976957-57976958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:57976007-57977704	NB4	blood:	n/a	n/a
2	SPI1	chr4:57976891-57977329	HL-60	blood:	n/a	n/a
3	POLR2A	chr4:57975916-57977186	HUVEC	blood vessel:	n/a	n/a
4	RAD21	chr4:57975818-57977524	IMR90	lung:	n/a	n/a
5	MAZ	chr4:57975533-57978084	IMR90	lung:	n/a	n/a
6	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
7	POLR2A	chr4:57975977-57977225	ProgFib	skin:	n/a	n/a
8	SPI1	chr4:57976714-57977458	HL-60	blood:	n/a	n/a
9	EP300	chr4:57976931-57977168	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:57975464-57977315	HUVEC	blood vessel:	n/a	n/a
11	RUNX3	chr4:57976876-57977263	GM12878	blood:	n/a	chr4:57977051-57977066
12	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
13	BACH1	chr4:57976687-57977317	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:57976652-57977487	U87	brain:	n/a	n/a
15	POLR2A	chr4:57976115-57977705	U87	brain:	n/a	n/a
16	POLR2A	chr4:57976288-57977242	U87	brain:	n/a	n/a
17	POLR2A	chr4:57975161-57977444	HUVEC	blood vessel:	n/a	n/a
18	SPI1	chr4:57976954-57977192	K562	blood:	n/a	n/a
19	POLR2A	chr4:57975484-57977753	HL-60	blood:	n/a	n/a
20	MYC	chr4:57976020-57977677	NB4	blood:	n/a	n/a
21	CTBP2	chr4:57975585-57977526	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:57976014-57977520	NB4	blood:	n/a	n/a
23	SPI1	chr4:57976944-57977280	GM12878	blood:	n/a	n/a
24	SPI1	chr4:57976933-57977207	GM12891	blood:	n/a	n/a
25	POLR2A	chr4:57975736-57977586	HL-60	blood:	n/a	n/a
26	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a
27	POLR2A	chr4:57976149-57977536	Gliobla	brain:	n/a	n/a
28	POLR2A	chr4:57975457-57977126	HUVEC	blood vessel:	n/a	n/a
29	RUNX3	chr4:57976817-57977130	GM12878	blood:	n/a	chr4:57977051-57977066
30	REST	chr4:57975591-57977728	HL-60	blood:	n/a	chr4:57976519-57976529 chr4:57977134-57977147 chr4:57977324-57977332 chr4:57976830-57976843
31	POLR2A	chr4:57975797-57977594	HUVEC	blood vessel:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:57976944-57976994	A549	lung:	n/a
2	chr4:57976915-57976965	SK-N-MC	brain:	n/a
3	chr4:57976915-57976965	SAEC	small airway:	n/a
4	chr4:57976915-57976965	MCF-7	breast:	n/a
5	chr4:57976915-57976965	PANC-1	pancreas:	n/a
6	chr4:57976944-57976994	HMEC	breast:	n/a
7	chr4:57976915-57976965	AG04449	skin:	fetal
8	chr4:57976944-57976994	GM06990	blood:	n/a
9	chr4:57976944-57976994	AG09319	gingival:	n/a
10	chr4:57976915-57976965	SK-N-SH_RA	brain:	n/a
11	chr4:57976944-57976994	HRE	kidney:	n/a
12	chr4:57976944-57976994	IMR90	lung:	fetal
13	chr4:57976915-57976965	H1-hESC	embryonic stem cell:	embryo
14	chr4:57976915-57976965	HCF	heart:	n/a
15	chr4:57976915-57976965	RPTEC	kidney:	n/a
16	chr4:57976915-57976965	HRE	kidney:	n/a
17	chr4:57976915-57976965	AG04450	lung:	fetal
18	chr4:57976944-57976994	AG04450	lung:	fetal
19	chr4:57976944-57976994	Hepatocyte	liver:	n/a
20	chr4:57976915-57976965	Hela-S3	cervix:	n/a
21	chr4:57976944-57976994	HCM	heart:	n/a
22	chr4:57976915-57976965	HEEpiC	esophagus:	n/a
23	chr4:57976915-57976965	AG10803	skin:	n/a
24	chr4:57976915-57976965	Hepatocyte	liver:	n/a
25	chr4:57976915-57976965	NH-A	brain:	n/a
26	chr4:57976915-57976965	GM06990	blood:	n/a
27	chr4:57976944-57976994	MCF10A-Er-Src	breast:	n/a
28	chr4:57976915-57976965	GM12891	blood:	n/a
29	chr4:57976944-57976994	HCF	heart:	n/a
30	chr4:57976944-57976994	Hela-S3	cervix:	n/a
31	chr4:57976944-57976994	HCT-116	colon:	n/a
32	chr4:57976944-57976994	AoSMC	blood vessel:	n/a
33	chr4:57976915-57976965	SKMC	muscle:	n/a
34	chr4:57976915-57976965	HUVEC	blood vessel:	n/a
35	chr4:57976915-57976965	K562	blood:	n/a
36	chr4:57976944-57976994	Jurkat	blood:	n/a
37	chr4:57976944-57976994	HAEpiC	amniotic membrane:	n/a
38	chr4:57976915-57976965	HIPEpiC	eye:	n/a
39	chr4:57976944-57976994	BE2_C	brain:	n/a
40	chr4:57976915-57976965	HCT-116	colon:	n/a
41	chr4:57976944-57976994	HRPEpiC	eye:	n/a
42	chr4:57976915-57976965	U87	brain:	n/a
43	chr4:57976915-57976965	ECC-1	luminal epithelium:	n/a
44	chr4:57976944-57976994	ProgFib	skin:	n/a
45	chr4:57976944-57976994	SAEC	small airway:	n/a
46	chr4:57976944-57976994	PANC-1	pancreas:	n/a
47	chr4:57976944-57976994	NHDF-neo	bronchial:	n/a
48	chr4:57976915-57976965	ovcar-3	ovarian:	n/a
49	chr4:57976915-57976965	CMK	blood:	n/a
50	chr4:57976915-57976965	GM19239	blood:	n/a

No data

Variant related genes	Relation type
IGFBP7	TF binding region
ENSG00000238541	TF binding region
IGFBP7	CpG island
ENSG00000238541	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10004910	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11133482	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11133483	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11133484	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13108835	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13124681	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13129156	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13147020	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6554428	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6825609	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661524	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7670481	0.88[EUR][1000 genomes]
rs7681360	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9993153	0.95[EUR][1000 genomes];0.89[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4075349	IGFBP7	cis	parietal	SCAN
rs4075349	KIT	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57972400-57977800	Active TSS	Aorta	Aorta
2	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
3	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
5	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
7	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
8	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
9	chr4:57973600-57977800	Active TSS	Ovary	ovary
10	chr4:57973600-57977800	Active TSS	Right Atrium	heart
11	chr4:57973800-57977000	Active TSS	HSMMtube	muscle
12	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
13	chr4:57974200-57977000	Active TSS	A549	lung
14	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:57974600-57977000	Active TSS	NHEK	skin
17	chr4:57974600-57977400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:57974800-57977400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:57975000-57977000	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:57975000-57977000	Active TSS	HSMM	muscle
21	chr4:57975000-57977400	Active TSS	Colon Smooth Muscle	Colon
22	chr4:57975000-57977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:57975000-57977800	Active TSS	Brain Substantia Nigra	brain
24	chr4:57975000-57977800	Active TSS	NHDF-Ad	bronchial
25	chr4:57975200-57977000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:57975200-57977000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr4:57975200-57977600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr4:57975200-57977600	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:57975200-57977600	Active TSS	Lung	lung
30	chr4:57975400-57977000	Active TSS	Small Intestine	intestine
31	chr4:57975400-57977200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr4:57975400-57977400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:57975400-57977600	Active TSS	Brain Angular Gyrus	brain
34	chr4:57975600-57977000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr4:57975600-57977000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr4:57975600-57977000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:57975600-57977200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr4:57975600-57977400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:57975600-57977600	Active TSS	Gastric	stomach
40	chr4:57975800-57977000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:57975800-57977200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:57975800-57977200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:57975800-57977400	Flanking Active TSS	HMEC	breast
44	chr4:57975800-57977400	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:57975800-57977600	Active TSS	Primary T cells from cord blood	blood
46	chr4:57975800-57977600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr4:57975800-57977800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr4:57976000-57977000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:57976000-57977400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:57976000-57977400	Active TSS	Primary monocytes fromperipheralblood	blood

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