Variant report

Variant	rs1003292
Chromosome Location	chr7:84816516-84816517
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	REST	chr7:84815905-84816587	SK-N-SH	brain:	n/a	chr7:84816197-84816210 chr7:84815934-84815947 chr7:84816342-84816351 chr7:84815930-84815950 chr7:84815930-84815944 chr7:84815930-84815950
2	RAD21	chr7:84815925-84816625	SK-N-SH_RA	brain:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84816176-84816189
3	YY1	chr7:84815953-84816580	SK-N-SH_RA	brain:	n/a	n/a
4	MYC	chr7:84816023-84816660	NB4	blood:	n/a	chr7:84816194-84816204
5	KAP1	chr7:84814820-84817472	HEK293	kidney:	n/a	chr7:84815837-84815845
6	RAD21	chr7:84815531-84816565	IMR90	lung:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84815572-84815586 chr7:84816176-84816189
7	RAD21	chr7:84814019-84816831	SK-N-SH	brain:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84814919-84814933 chr7:84815572-84815586 chr7:84814921-84814935 chr7:84816176-84816189
8	EP300	chr7:84815966-84816591	SK-N-SH_RA	brain:	n/a	chr7:84816172-84816188
9	TEAD4	chr7:84815456-84816801	SK-N-SH	brain:	n/a	n/a
10	E2F6	chr7:84815961-84816567	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr7:84814739-84816673	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:84816063-84816590	HL-60	blood:	n/a	n/a
13	SIN3AK20	chr7:84814259-84816621	SK-N-SH	brain:	n/a	n/a
14	MAX	chr7:84815276-84816670	H1-hESC	embryonic stem cell:	n/a	chr7:84816194-84816204
15	CTCF	chr7:84815795-84816602	A549	lung:	n/a	chr7:84815992-84816000 chr7:84816175-84816188 chr7:84816252-84816265
16	TEAD4	chr7:84816066-84816641	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr7:84816099-84816680	H1-hESC	embryonic stem cell:	n/a	n/a
18	PBX3	chr7:84815377-84816760	SK-N-SH	brain:	n/a	n/a
19	TCF7L2	chr7:84816046-84816586	PANC-1	pancreas:	n/a	n/a
20	SMC3	chr7:84813820-84817583	SK-N-SH	brain:	n/a	chr7:84815619-84815627 chr7:84816197-84816207 chr7:84815764-84815774
21	RAD21	chr7:84815729-84816684	H1-hESC	embryonic stem cell:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84816176-84816189
22	TCF12	chr7:84815489-84816554	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr7:84815884-84816574	A549	lung:	n/a	chr7:84816194-84816204
24	RAD21	chr7:84815377-84816681	SK-N-SH_RA	brain:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84815572-84815586 chr7:84816176-84816189
25	MXI1	chr7:84813669-84816669	IMR90	lung:	n/a	chr7:84814537-84814552 chr7:84814539-84814554
26	SIN3A	chr7:84814259-84816923	H1-hESC	embryonic stem cell:	n/a	chr7:84816341-84816349 chr7:84816342-84816355
27	POLR2A	chr7:84816043-84816556	MCF-7	breast:	n/a	n/a
28	RAD21	chr7:84815890-84816562	HCT-116	colon:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84816176-84816189
29	E2F6	chr7:84815945-84816615	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr7:84815951-84816557	ECC-1	luminal epithelium:	n/a	chr7:84816194-84816204
31	MAX	chr7:84815869-84816720	ECC-1	luminal epithelium:	n/a	chr7:84816194-84816204
32	MAX	chr7:84816074-84816576	NB4	blood:	n/a	chr7:84816194-84816204
33	CTCF	chr7:84815922-84816538	HCT-116	colon:	n/a	chr7:84815992-84816000 chr7:84816175-84816188 chr7:84816252-84816265
34	MYC	chr7:84816044-84816561	MCF-7	breast:	n/a	chr7:84816194-84816204
35	POLR2A	chr7:84814718-84816691	HUVEC	blood vessel:	n/a	n/a
36	HA-E2F1	chr7:84813987-84816873	MCF-7	breast:	n/a	chr7:84814527-84814537 chr7:84815781-84815791 chr7:84814653-84814662
37	MAX	chr7:84814013-84816712	SK-N-SH	brain:	n/a	chr7:84814539-84814548 chr7:84814495-84814502 chr7:84814452-84814462 chr7:84816194-84816204
38	RAD21	chr7:84815877-84816516	HCT-116	colon:	n/a	chr7:84816251-84816265 chr7:84816197-84816209 chr7:84816197-84816207 chr7:84816176-84816189
39	CTCF	chr7:84816480-84816630	GM06990	blood:	n/a	n/a
40	CTCF	chr7:84814337-84817030	SK-N-SH	brain:	n/a	chr7:84814916-84814929 chr7:84815761-84815774 chr7:84814922-84814935 chr7:84815992-84816000 chr7:84816175-84816188 chr7:84816252-84816265 chr7:84814919-84814932
41	POLR2A	chr7:84814096-84816644	SK-N-SH	brain:	n/a	n/a
42	MAZ	chr7:84815578-84816931	IMR90	lung:	n/a	chr7:84816194-84816204
43	GATA2	chr7:84816133-84816837	HUVEC	blood vessel:	n/a	n/a
44	BACH1	chr7:84816331-84816609	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr7:84814130-84816727	SK-N-SH	brain:	n/a	chr7:84814539-84814548 chr7:84814495-84814502 chr7:84814452-84814462 chr7:84816194-84816204
46	MAX	chr7:84815893-84816688	H1-hESC	embryonic stem cell:	n/a	chr7:84816194-84816204
47	EP300	chr7:84816033-84816629	SK-N-SH_RA	brain:	n/a	chr7:84816172-84816188
48	ZNF263	chr7:84814225-84816901	HEK293-T-REx	kidney:	n/a	chr7:84816270-84816291 chr7:84816269-84816278 chr7:84816419-84816428

Variant related genes	Relation type
SEMA3D	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003293	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1016181	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1019204	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808059	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11978933	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669993	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704114	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473150	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473151	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648274	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159574	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2159580	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191483	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2191489	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372671	0.91[EUR][1000 genomes]
rs2429689	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534856	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534857	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534858	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2534861	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534862	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534863	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534864	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534868	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534871	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2534874	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732747	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2732748	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732759	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2732761	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732763	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727099	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs718413	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777999	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7779964	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780423	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798514	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs976479	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976480	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs976481	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888645	chr7:84738495-84842884	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv888646	chr7:84754151-84905855	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84814200-84816600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:84814200-84816600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:84814200-84816600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:84814200-84816600	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:84814200-84816600	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:84814200-84816800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:84814200-84816800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:84814200-84816800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
9	chr7:84814400-84816600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:84814400-84816600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:84814400-84816600	Active TSS	Brain Substantia Nigra	brain
12	chr7:84814400-84816800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:84814400-84816800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:84814400-84816800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:84814400-84816800	Active TSS	Aorta	Aorta
16	chr7:84814400-84816800	Active TSS	Right Atrium	heart
17	chr7:84814400-84817000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:84814400-84817000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:84814400-84817000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:84814600-84816600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr7:84814600-84816600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:84814600-84816600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:84814600-84816600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:84814600-84816600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:84814600-84816600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:84814600-84816600	Active TSS	Brain Anterior Caudate	brain
27	chr7:84814600-84816600	Active TSS	Fetal Heart	heart
28	chr7:84814600-84816600	Active TSS	Left Ventricle	heart
29	chr7:84814600-84816600	Bivalent/Poised TSS	HSMM	muscle
30	chr7:84814600-84816800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr7:84814600-84816800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:84814600-84816800	Active TSS	Colon Smooth Muscle	Colon
33	chr7:84814600-84817000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:84814600-84817000	Active TSS	Fetal Kidney	kidney
35	chr7:84814800-84816600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:84814800-84816600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:84814800-84816600	Active TSS	Gastric	stomach
38	chr7:84814800-84817000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:84815000-84816600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr7:84815000-84816600	Active TSS	Fetal Intestine Large	intestine
41	chr7:84815000-84816600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr7:84815200-84816600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:84815200-84816600	Active TSS	Esophagus	oesophagus
44	chr7:84815200-84817000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr7:84815400-84816600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:84815400-84816600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:84815400-84816600	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr7:84815400-84816800	Bivalent/Poised TSS	A549	lung
49	chr7:84815600-84816600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:84815600-84816600	Flanking Active TSS	Primary B cells from cord blood	blood

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