Variant report

Variant	rs7100430
Chromosome Location	chr10:96122543-96122544
allele	A/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	chr10:96122304-96123003	MCF-7	breast:	n/a	n/a
2	ELK4	chr10:96122434-96123159	Hela-S3	cervix:	n/a	chr10:96122737-96122746 chr10:96122699-96122710
3	BHLHE40	chr10:96122203-96123107	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:96122017-96123015	GM12891	blood:	n/a	n/a
5	POLR2A	chr10:96122270-96123212	U87	brain:	n/a	n/a
6	CHD2	chr10:96122463-96123043	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:96122012-96122983	GM12892	blood:	n/a	n/a
8	MBD4	chr10:96122410-96123047	HepG2	liver:	n/a	n/a
9	YY1	chr10:96122492-96122969	A549	lung:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
10	MAX	chr10:96122362-96123316	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr10:96122252-96123103	K562	blood:	n/a	n/a
12	SMC3	chr10:96122522-96123193	GM12878	blood:	n/a	chr10:96122779-96122793
13	ELF1	chr10:96122344-96123193	HCT-116	colon:	n/a	chr10:96122696-96122709
14	BHLHE40	chr10:96122204-96123003	A549	lung:	n/a	n/a
15	ELK1	chr10:96122316-96123070	Hela-S3	cervix:	n/a	chr10:96122737-96122746 chr10:96122737-96122746
16	POLR2A	chr10:96122392-96123043	A549	lung:	n/a	n/a
17	USF1	chr10:96122441-96122855	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr10:96122122-96123024	K562	blood:	n/a	n/a
19	STAT5A	chr10:96122143-96123002	GM12878	blood:	n/a	chr10:96122145-96122154 chr10:96122339-96122347
20	RELA	chr10:96122162-96123266	GM10847	blood:	n/a	chr10:96122457-96122466 chr10:96122457-96122466
21	POLR2A	chr10:96122442-96122940	HCT-116	colon:	n/a	n/a
22	YY1	chr10:96122437-96122981	SK-N-SH_RA	brain:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
23	POLR2A	chr10:96121803-96123047	PBDE	blood:	n/a	n/a
24	POLR2A	chr10:96122475-96123078	HL-60	blood:	n/a	n/a
25	POLR2A	chr10:96122073-96122987	Hela-S3	cervix:	n/a	n/a
26	YY1	chr10:96122344-96123004	GM12892	blood:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
27	PML	chr10:96121943-96123112	GM12878	blood:	n/a	chr10:96122144-96122153
28	E2F6	chr10:96122142-96123380	A549	lung:	n/a	chr10:96122847-96122858
29	SP1	chr10:96122294-96123122	A549	lung:	n/a	n/a
30	TFAP2C	chr10:96122393-96123248	Hela-S3	cervix:	n/a	chr10:96122737-96122746
31	STAT3	chr10:96121864-96123137	GM12878	blood:	n/a	chr10:96122145-96122154 chr10:96122339-96122347
32	POLR2A	chr10:96122365-96122987	HepG2	liver:	n/a	n/a
33	NFIC	chr10:96122341-96123256	ECC-1	luminal epithelium:	n/a	n/a
34	MYC	chr10:96122513-96122951	HUVEC	blood vessel:	n/a	n/a
35	YY1	chr10:96122538-96122930	HCT-116	colon:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
36	JUN	chr10:96121941-96123008	K562	blood:	n/a	chr10:96122149-96122161 chr10:96122145-96122154 chr10:96122145-96122155 chr10:96122145-96122155 chr10:96122222-96122231 chr10:96122145-96122155 chr10:96122144-96122156 chr10:96122145-96122155
37	BATF	chr10:96122013-96122875	GM12878	blood:	n/a	chr10:96122147-96122157
38	JUND	chr10:96121994-96122678	HepG2	liver:	n/a	chr10:96122149-96122161 chr10:96122145-96122154 chr10:96122145-96122155 chr10:96122144-96122155 chr10:96122145-96122155 chr10:96122222-96122231 chr10:96122145-96122155 chr10:96122144-96122156 chr10:96122145-96122155
39	POLR2A	chr10:96122349-96122992	K562	blood:	n/a	n/a
40	ELF1	chr10:96122485-96122944	K562	blood:	n/a	chr10:96122696-96122709
41	POLR2A	chr10:96122325-96123015	HL-60	blood:	n/a	n/a
42	CREB1	chr10:96122542-96123021	H1-hESC	embryonic stem cell:	n/a	n/a
43	SMC3	chr10:96122378-96123008	HepG2	liver:	n/a	chr10:96122779-96122793
44	POLR2A	chr10:96122396-96122953	MCF-7	breast:	n/a	n/a
45	HEY1	chr10:96122458-96122958	K562	blood:	n/a	chr10:96122890-96122905
46	GABPA	chr10:96122528-96122892	GM12878	blood:	n/a	chr10:96122832-96122841
47	GABPA	chr10:96122220-96123281	SK-N-SH	brain:	n/a	chr10:96122832-96122841
48	SP2	chr10:96122349-96122978	HepG2	liver:	n/a	chr10:96122741-96122756 chr10:96122716-96122731
49	SIN3AK20	chr10:96122401-96122912	A549	lung:	n/a	n/a
50	JUND	chr10:96122145-96122938	H1-hESC	embryonic stem cell:	n/a	chr10:96122149-96122161 chr10:96122145-96122154 chr10:96122145-96122155 chr10:96122145-96122155 chr10:96122222-96122231 chr10:96122145-96122155 chr10:96122145-96122155

No.	Distal block	Cell Line	Cell type
1	chr10:96120934..96124258-chr10:96160439..96165957,6	MCF-7	breast:
2	chr10:96122262..96123153-chr14:23564649..23565183,2	Hela-S3	cervix:
3	chr10:96121306..96124383-chr10:96159927..96163798,5	MCF-7	breast:
4	chr10:96120995..96123181-chr10:96304440..96307322,3	MCF-7	breast:
5	chr10:96121730..96122942-chr10:96161863..96162614,3	Hela-S3	cervix:
6	chr10:96121005..96123981-chr10:96160609..96162843,2	K562	blood:

Variant related genes	Relation type
NOC3L	TF binding region
ENSG00000100813	Chromatin interaction
ENSG00000119969	Chromatin interaction
ENSG00000108239	Chromatin interaction
ENSG00000179933	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10509670	0.82[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap]
rs10509671	0.93[MEX][hapmap]
rs10786161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10882416	0.94[ASW][hapmap];0.95[CEU][hapmap];0.94[GIH][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10882422	0.94[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.89[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10882424	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10882430	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10882435	0.80[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10882436	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10882437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882442	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10882443	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11187850	0.82[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap]
rs11187853	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11187869	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11187876	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11187881	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11187893	0.80[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11187894	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11187899	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11187900	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11187901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558740	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12217597	0.82[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12219063	0.86[EUR][1000 genomes]
rs12220125	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12263737	0.88[ASW][hapmap];0.95[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12773229	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12780491	0.80[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12781451	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2274223	0.82[ASW][hapmap];0.82[CEU][hapmap];0.83[GIH][hapmap];0.93[MEX][hapmap];0.83[AMR][1000 genomes]
rs34689035	0.82[AMR][1000 genomes]
rs3765524	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3781264	0.93[MEX][hapmap]
rs3781265	0.81[CEU][hapmap];0.84[AMR][1000 genomes]
rs3818432	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs6583934	0.84[AMR][1000 genomes]
rs6583935	0.80[CEU][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6583937	1.00[CEU][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6583940	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7074125	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7077192	0.85[EUR][1000 genomes]
rs7081265	0.93[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs7084339	0.88[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];0.88[AMR][1000 genomes]
rs7084988	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7085378	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7092226	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7094783	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7096037	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7099485	0.81[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes]
rs7100870	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7897678	0.83[AMR][1000 genomes]
rs7897963	0.84[AMR][1000 genomes]
rs7903902	0.89[AMR][1000 genomes]
rs7908638	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7914672	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7100430	NOC3L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96121000-96122600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:96121000-96122600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr10:96121000-96123200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:96121200-96122600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr10:96121200-96123000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr10:96121200-96123000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:96121200-96123000	Active TSS	GM12878-XiMat	blood
8	chr10:96121200-96123000	Active TSS	NHLF	lung
9	chr10:96121200-96123200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr10:96121200-96123200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:96121200-96123200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:96121200-96123200	Active TSS	Psoas Muscle	Psoas
13	chr10:96121400-96122800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr10:96121400-96123000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr10:96121400-96123000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr10:96121400-96123000	Active TSS	K562	blood
17	chr10:96121400-96123200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:96121400-96123200	Active TSS	Right Atrium	heart
19	chr10:96121400-96123200	Active TSS	Right Ventricle	heart
20	chr10:96121400-96123400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:96121600-96123000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr10:96121600-96123000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr10:96121600-96123000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:96121600-96123000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:96121600-96123000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:96121600-96123000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr10:96121600-96123000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:96121600-96123000	Active TSS	Fetal Muscle Leg	muscle
29	chr10:96121600-96123000	Active TSS	A549	lung
30	chr10:96121600-96123000	Active TSS	Hela-S3	cervix
31	chr10:96121600-96123200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:96121600-96123200	Active TSS	Brain Germinal Matrix	brain
33	chr10:96121600-96123200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr10:96121600-96123200	Active TSS	HSMM	muscle
35	chr10:96121800-96122800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr10:96121800-96122800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:96121800-96123000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:96121800-96123000	Active TSS	Primary T cells fromperipheralblood	blood
39	chr10:96121800-96123000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:96121800-96123000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:96121800-96123000	Active TSS	Lung	lung
42	chr10:96121800-96123000	Active TSS	Placenta Amnion	Placenta Amnion
43	chr10:96121800-96123000	Active TSS	HMEC	breast
44	chr10:96121800-96123200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:96121800-96123200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:96121800-96123200	Active TSS	Aorta	Aorta
47	chr10:96121800-96123200	Active TSS	Fetal Muscle Trunk	muscle
48	chr10:96121800-96123200	Active TSS	Left Ventricle	heart
49	chr10:96122000-96122600	Bivalent/Poised TSS	HepG2	liver
50	chr10:96122000-96122800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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