Variant report

Variant	rs73705442
Chromosome Location	chr8:120868328-120868329
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	POLR2A	chr8:120867508-120869309	Raji	blood:	n/a	n/a
2	YY1	chr8:120867820-120868665	K562	blood:	n/a	chr8:120867825-120867839
3	POU2F2	chr8:120868131-120868371	GM12878	blood:	n/a	n/a
4	PML	chr8:120867533-120868670	MCF-7	breast:	n/a	n/a
5	CHD1	chr8:120867940-120869650	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYBL2	chr8:120867613-120868408	HepG2	liver:	n/a	n/a
7	EP300	chr8:120868102-120868349	GM12878	blood:	n/a	chr8:120868213-120868229
8	POLR2A	chr8:120867623-120868873	U87	brain:	n/a	n/a
9	CEBPB	chr8:120867535-120868575	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:120867850-120869042	HCT-116	colon:	n/a	n/a
11	MAX	chr8:120867492-120868866	NB4	blood:	n/a	chr8:120867822-120867832 chr8:120868242-120868251 chr8:120867741-120867751
12	PAX5	chr8:120867991-120868384	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:120867812-120868484	K562	blood:	n/a	n/a
14	POLR2A	chr8:120867700-120868817	HL-60	blood:	n/a	n/a
15	POLR2A	chr8:120867752-120868755	HCT-116	colon:	n/a	n/a
16	GABPA	chr8:120867898-120868432	Hela-S3	cervix:	n/a	n/a
17	YY1	chr8:120867751-120868395	H1-hESC	embryonic stem cell:	n/a	chr8:120867825-120867839
18	TAF1	chr8:120868062-120868725	H1-neurons	neurons:	n/a	n/a
19	CREB1	chr8:120867598-120868590	H1-hESC	embryonic stem cell:	n/a	n/a
20	POU2F2	chr8:120867929-120868471	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:120867605-120868694	Gliobla	brain:	n/a	n/a
22	RCOR1	chr8:120867494-120868996	K562	blood:	n/a	n/a
23	MAX	chr8:120867427-120868797	MCF-7	breast:	n/a	chr8:120867822-120867832 chr8:120868242-120868251 chr8:120867741-120867751
24	POLR2A	chr8:120867437-120869408	K562	blood:	n/a	n/a
25	POLR2A	chr8:120867662-120868668	A549	lung:	n/a	n/a
26	POLR2A	chr8:120867540-120869095	U87	brain:	n/a	n/a
27	BCLAF1	chr8:120867847-120868388	GM12878	blood:	n/a	chr8:120868173-120868182 chr8:120868058-120868067
28	ELF1	chr8:120867463-120868860	MCF-7	breast:	n/a	chr8:120867607-120867620
29	POLR2A	chr8:120867883-120868653	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr8:120867547-120868785	GM12892	blood:	n/a	n/a
31	FOXM1	chr8:120867868-120868681	GM12878	blood:	n/a	n/a
32	ATF2	chr8:120867905-120868524	GM12878	blood:	n/a	n/a
33	ELF1	chr8:120867461-120868753	GM12878	blood:	n/a	chr8:120867607-120867620
34	TAF1	chr8:120868065-120868343	GM12891	blood:	n/a	n/a
35	REST	chr8:120867743-120868976	H1-neurons	neurons:	n/a	chr8:120868176-120868189
36	HEY1	chr8:120867918-120868591	HepG2	liver:	n/a	chr8:120868185-120868200
37	TBP	chr8:120867970-120868390	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:120867569-120868951	K562	blood:	n/a	n/a
39	SMARCB1	chr8:120867535-120868782	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr8:120867530-120868636	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr8:120867282-120868799	HCT-116	colon:	n/a	n/a
42	POLR2A	chr8:120867841-120868642	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr8:120867853-120868736	SK-N-MC	brain:	n/a	n/a
44	USF1	chr8:120867549-120868341	ECC-1	luminal epithelium:	n/a	chr8:120868183-120868199 chr8:120868175-120868191
45	KAP1	chr8:120867491-120869024	HEK293	kidney:	n/a	n/a
46	SP1	chr8:120867736-120868622	A549	lung:	n/a	chr8:120868173-120868182 chr8:120868171-120868183 chr8:120868379-120868388 chr8:120868171-120868183
47	SIN3AK20	chr8:120867355-120868758	MCF-7	breast:	n/a	n/a
48	CHD2	chr8:120867617-120868722	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:120867604-120869324	MCF10A-Er-Src	breast:	n/a	n/a
50	ZKSCAN1	chr8:120867666-120868540	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
2	chr8:120867539..120869566-chr8:120874837..120876413,2	MCF-7	breast:
3	chr8:120867684..120870037-chr8:120884451..120886345,2	K562	blood:
4	chr8:120868194..120870504-chr8:121469738..121472697,2	MCF-7	breast:
5	chr6:151646464..151646965-chr8:120868134..120868634,2	Hela-S3	cervix:
6	chr14:64970728..64971431-chr8:120867862..120868689,2	HCT-116	colon:
7	chr8:120866790..120869291-chr8:121456136..121458268,2	MCF-7	breast:
8	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
9	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:
10	chr11:47290799..47291583-chr8:120867901..120868534,2	Hela-S3	cervix:
11	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

Variant related genes	Relation type
DSCC1	TF binding region
ENSG00000155792	Chromatin interaction
ENSG00000244642	Chromatin interaction
ENSG00000245330	Chromatin interaction
ENSG00000131016	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000172167	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000064313	Chromatin interaction
ENSG00000172172	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086801	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10955938	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955939	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785572	0.84[ASN][1000 genomes]
rs11985347	0.84[ASN][1000 genomes]
rs11991780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893214	0.84[ASN][1000 genomes]
rs16893240	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893243	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893249	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893252	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17818842	0.84[ASN][1000 genomes]
rs2063284	0.84[ASN][1000 genomes]
rs28619135	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28700049	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55741337	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55776270	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55889147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58900911	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61438417	0.84[ASN][1000 genomes]
rs62526620	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526621	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526622	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526623	1.00[ASN][1000 genomes]
rs62526624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526625	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526635	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526636	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526637	1.00[ASN][1000 genomes]
rs62526638	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526639	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526640	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526641	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526642	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6469856	0.91[ASN][1000 genomes]
rs6469858	0.91[ASN][1000 genomes]
rs6981251	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982092	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982342	0.91[ASN][1000 genomes]
rs6987018	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987100	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987160	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987389	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988621	0.84[ASN][1000 genomes]
rs6994428	0.82[ASN][1000 genomes]
rs6995594	0.84[ASN][1000 genomes]
rs7002440	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007123	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007265	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007320	0.91[ASN][1000 genomes]
rs72690112	0.84[ASN][1000 genomes]
rs72690123	1.00[ASN][1000 genomes]
rs72690128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690134	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72690137	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72690142	0.81[AMR][1000 genomes]
rs7465510	0.91[ASN][1000 genomes]
rs7813113	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815122	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815266	0.82[ASN][1000 genomes]
rs7823836	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7823910	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7823917	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825443	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7843080	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843579	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs73705442	DSCC1	cis	lung	GTEx
rs73705442	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs73705442	DSCC1	cis	Heart Left Ventricle	GTEx
rs73705442	DSCC1	cis	Nerve Tibial	GTEx
rs73705442	DSCC1	cis	Thyroid	GTEx
rs73705442	DSCC1	cis	Muscle Skeletal	GTEx
rs73705442	DSCC1	cis	Artery Aorta	GTEx
rs73705442	DSCC1	cis	Adipose Subcutaneous	GTEx
rs73705442	DSCC1	cis	Artery Tibial	GTEx
rs73705442	DSCC1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120865400-120868600	Active TSS	GM12878-XiMat	blood
2	chr8:120866000-120868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:120866000-120868600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:120866000-120868800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:120866200-120868400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:120866400-120868800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:120866400-120869000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:120866600-120868600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:120866600-120869200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:120867000-120868600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:120867000-120868600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:120867000-120868800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:120867000-120868800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:120867000-120869000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr8:120867200-120868400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:120867200-120868400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:120867200-120868400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:120867200-120868400	Active TSS	Fetal Muscle Trunk	muscle
19	chr8:120867200-120868600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:120867200-120868600	Active TSS	Rectal Smooth Muscle	rectum
21	chr8:120867200-120868600	Active TSS	HepG2	liver
22	chr8:120867200-120868800	Active TSS	HSMMtube	muscle
23	chr8:120867200-120869000	Active TSS	Right Ventricle	heart
24	chr8:120867400-120868400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:120867400-120868400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr8:120867400-120868400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:120867400-120868400	Active TSS	Fetal Stomach	stomach
28	chr8:120867400-120868400	Active TSS	A549	lung
29	chr8:120867400-120868400	Active TSS	HSMM	muscle
30	chr8:120867400-120868600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr8:120867400-120868600	Active TSS	K562	blood
32	chr8:120867400-120868800	Active TSS	Esophagus	oesophagus
33	chr8:120867400-120868800	Active TSS	Ovary	ovary
34	chr8:120867400-120868800	Active TSS	NHDF-Ad	bronchial
35	chr8:120867400-120869000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:120867400-120869000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:120867400-120869200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:120867600-120868400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:120867600-120868400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:120867600-120868400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:120867600-120868400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:120867600-120868400	Active TSS	Left Ventricle	heart
43	chr8:120867600-120868400	Active TSS	Hela-S3	cervix
44	chr8:120867600-120868400	Active TSS	NH-A	brain
45	chr8:120867600-120868400	Active TSS	NHLF	lung
46	chr8:120867600-120868400	Active TSS	Osteobl	bone
47	chr8:120867600-120868600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:120867600-120868600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:120867600-120868600	Active TSS	Brain Angular Gyrus	brain
50	chr8:120867600-120868600	Active TSS	Sigmoid Colon	Sigmoid Colon

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