Variant report

Variant	rs7002972
Chromosome Location	chr8:35401701-35401702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:35401558-35401905	H1-hESC	embryonic stem cell:	n/a	chr8:35401751-35401760

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:35401670-35401720	IMR90	lung:	fetal
2	chr8:35401670-35401720	MCF10A-Er-Src	breast:	n/a
3	chr8:35401670-35401720	HRPEpiC	eye:	n/a
4	chr8:35401670-35401720	HUVEC	blood vessel:	n/a
5	chr8:35401670-35401720	HCT-116	colon:	n/a
6	chr8:35401670-35401720	HCM	heart:	n/a
7	chr8:35401670-35401720	AG09319	gingival:	n/a
8	chr8:35401670-35401720	GM06990	blood:	n/a
9	chr8:35401670-35401720	HEK293	kidney:	embryo
10	chr8:35401670-35401720	ProgFib	skin:	n/a
11	chr8:35401670-35401720	AG10803	skin:	n/a
12	chr8:35401670-35401720	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:35401670-35401720	NHBE	bronchial:	n/a
14	chr8:35401670-35401720	HRE	kidney:	n/a
15	chr8:35401670-35401720	ovcar-3	ovarian:	n/a
16	chr8:35401670-35401720	RPTEC	kidney:	n/a
17	chr8:35401670-35401720	HepG2	liver:	n/a
18	chr8:35401670-35401720	PANC-1	pancreas:	n/a
19	chr8:35401670-35401720	GM12892	blood:	n/a
20	chr8:35401670-35401720	SKMC	muscle:	n/a
21	chr8:35401670-35401720	SK-N-MC	brain:	n/a
22	chr8:35401670-35401720	T-47D	breast:	n/a
23	chr8:35401670-35401720	NB4	blood:	n/a
24	chr8:35401670-35401720	ECC-1	luminal epithelium:	n/a
25	chr8:35401670-35401720	H1-hESC	embryonic stem cell:	embryo
26	chr8:35401670-35401720	MCF-7	breast:	n/a
27	chr8:35401670-35401720	Jurkat	blood:	n/a
28	chr8:35401670-35401720	HNPCEpiC	eye:	n/a
29	chr8:35401670-35401720	AG04449	skin:	fetal
30	chr8:35401670-35401720	AoSMC	blood vessel:	n/a
31	chr8:35401670-35401720	PrEC	prostate:	n/a
32	chr8:35401670-35401720	HAEpiC	amniotic membrane:	n/a
33	chr8:35401670-35401720	HCF	heart:	n/a
34	chr8:35401670-35401720	HMEC	breast:	n/a
35	chr8:35401670-35401720	SK-N-SH_RA	brain:	n/a
36	chr8:35401670-35401720	HL-60	blood:	n/a
37	chr8:35401670-35401720	GM19239	blood:	n/a
38	chr8:35401670-35401720	PFSK-1	brain:	n/a
39	chr8:35401670-35401720	BJ	skin:	n/a
40	chr8:35401670-35401720	Hela-S3	cervix:	n/a
41	chr8:35401670-35401720	Hepatocyte	liver:	n/a
42	chr8:35401670-35401720	SK-N-SH	brain:	n/a
43	chr8:35401670-35401720	NT2-D1	testis:	n/a
44	chr8:35401670-35401720	AG09309	skin:	n/a
45	chr8:35401670-35401720	CMK	blood:	n/a
46	chr8:35401670-35401720	GM12891	blood:	n/a
47	chr8:35401670-35401720	GM12878	blood:	n/a
48	chr8:35401670-35401720	NHDF-neo	bronchial:	n/a
49	chr8:35401670-35401720	K562	blood:	n/a
50	chr8:35401670-35401720	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
UNC5D	TF binding region
UNC5D	CpG island

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10086532	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10099855	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102863	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10106901	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111986	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10112860	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10216851	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10503980	0.84[EUR][1000 genomes]
rs12334629	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12334687	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541423	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12543657	0.91[ASN][1000 genomes]
rs12544168	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544701	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545517	0.84[EUR][1000 genomes]
rs12546560	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546786	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547584	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12550037	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13250198	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1371150	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1371154	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439149	0.94[EUR][1000 genomes]
rs1439150	0.84[EUR][1000 genomes]
rs1439157	0.81[CHB][hapmap]
rs1439159	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16884019	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16884041	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16884099	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884109	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1837346	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1837348	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1992251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1992252	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053340	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053342	0.94[EUR][1000 genomes]
rs28748085	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35827990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3899662	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41360948	1.00[CHB][hapmap];1.00[LWK][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41409549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237083	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4237084	0.80[ASN][1000 genomes]
rs4302835	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4361760	0.81[EUR][1000 genomes]
rs4389936	0.80[ASN][1000 genomes]
rs4481589	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4529455	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4577954	0.81[EUR][1000 genomes]
rs4579522	0.80[ASN][1000 genomes]
rs4739306	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4739409	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4739412	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4739414	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739415	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739416	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56276341	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58417870	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091238	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60810562	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6468320	0.95[ASN][1000 genomes]
rs6980691	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988474	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6989128	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990731	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990960	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6991528	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6992105	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995309	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997313	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7001739	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016526	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73571880	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73674023	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7818666	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7821725	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7829642	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833005	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833633	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834535	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841785	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845667	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs953345	0.84[EUR][1000 genomes]
rs953346	0.84[EUR][1000 genomes]
rs953347	0.84[EUR][1000 genomes]
rs9656746	0.84[EUR][1000 genomes]
rs9772421	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9773948	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983270	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983271	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs983272	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs983273	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997084	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024397	chr8:35296922-35424277	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35396600-35404000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:35397000-35403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:35399000-35404000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:35399200-35401800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:35399600-35403200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:35399800-35402600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:35400000-35404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:35400200-35402800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:35400400-35414600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:35400800-35403200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:35401000-35403000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:35401200-35403000	Enhancers	Fetal Lung	lung
13	chr8:35401200-35403200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:35401200-35405400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:35401400-35401800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:35401400-35402000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:35401400-35403000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:35401400-35403000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:35401400-35403200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:35401400-35404000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:35401400-35408400	Weak transcription	Fetal Brain Male	brain
22	chr8:35401600-35401800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:35401600-35402000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr8:35401600-35402600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:35401600-35403200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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