Variant report

Variant	rs11187904
Chromosome Location	chr10:96122681-96122682
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	CTCF	chr10:96122642-96122946	Fibrobl	skin:	n/a	chr10:96122779-96122792 chr10:96122778-96122794 chr10:96122777-96122795
4	BHLHE40	chr10:96122203-96123107	GM12878	blood:	n/a	n/a
5	CTCF	chr10:96122654-96122908	K562	blood:	n/a	chr10:96122779-96122792 chr10:96122778-96122794 chr10:96122777-96122795
6	POLR2A	chr10:96122017-96123015	GM12891	blood:	n/a	n/a
7	POLR2A	chr10:96122270-96123212	U87	brain:	n/a	n/a
8	CHD2	chr10:96122463-96123043	HepG2	liver:	n/a	n/a
9	SIX5	chr10:96122608-96122831	K562	blood:	n/a	n/a
10	EP300	chr10:96122597-96122879	K562	blood:	n/a	chr10:96122825-96122841 chr10:96122738-96122745
11	CTCF	chr10:96122627-96122945	GM12891	blood:	n/a	chr10:96122779-96122792 chr10:96122778-96122794 chr10:96122777-96122795
12	CTCF	chr10:96122680-96122970	HMEC	breast:	n/a	chr10:96122779-96122792 chr10:96122778-96122794 chr10:96122777-96122795
13	POLR2A	chr10:96122012-96122983	GM12892	blood:	n/a	n/a
14	MBD4	chr10:96122410-96123047	HepG2	liver:	n/a	n/a
15	YY1	chr10:96122492-96122969	A549	lung:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
16	MAX	chr10:96122362-96123316	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr10:96122252-96123103	K562	blood:	n/a	n/a
18	SMC3	chr10:96122522-96123193	GM12878	blood:	n/a	chr10:96122779-96122793
19	CTCF	chr10:96122676-96122924	LNCaP	prostate:	n/a	chr10:96122779-96122792 chr10:96122778-96122794 chr10:96122777-96122795
20	ELF1	chr10:96122344-96123193	HCT-116	colon:	n/a	chr10:96122696-96122709
21	BHLHE40	chr10:96122204-96123003	A549	lung:	n/a	n/a
22	RFX5	chr10:96122636-96122934	K562	blood:	n/a	n/a
23	ELK1	chr10:96122316-96123070	Hela-S3	cervix:	n/a	chr10:96122737-96122746 chr10:96122737-96122746
24	POLR2A	chr10:96122392-96123043	A549	lung:	n/a	n/a
25	USF1	chr10:96122441-96122855	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr10:96122579-96122766	HepG2	liver:	n/a	n/a
27	CTCF	chr10:96122640-96122790	GM12801	blood:	n/a	n/a
28	CTCFL	chr10:96122633-96122907	K562	blood:	n/a	n/a
29	POLR2A	chr10:96122122-96123024	K562	blood:	n/a	n/a
30	STAT5A	chr10:96122143-96123002	GM12878	blood:	n/a	chr10:96122145-96122154 chr10:96122339-96122347
31	RELA	chr10:96122162-96123266	GM10847	blood:	n/a	chr10:96122457-96122466 chr10:96122457-96122466
32	POLR2A	chr10:96122442-96122940	HCT-116	colon:	n/a	n/a
33	YY1	chr10:96122437-96122981	SK-N-SH_RA	brain:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
34	CTCF	chr10:96122680-96122830	HepG2	liver:	n/a	chr10:96122779-96122792 chr10:96122778-96122794 chr10:96122777-96122795
35	POLR2A	chr10:96121803-96123047	PBDE	blood:	n/a	n/a
36	POLR2A	chr10:96122475-96123078	HL-60	blood:	n/a	n/a
37	POLR2A	chr10:96122073-96122987	Hela-S3	cervix:	n/a	n/a
38	YY1	chr10:96122344-96123004	GM12892	blood:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563
39	ELK1	chr10:96122591-96122909	K562	blood:	n/a	chr10:96122737-96122746 chr10:96122737-96122746
40	PML	chr10:96121943-96123112	GM12878	blood:	n/a	chr10:96122144-96122153
41	E2F6	chr10:96122142-96123380	A549	lung:	n/a	chr10:96122847-96122858
42	SP1	chr10:96122294-96123122	A549	lung:	n/a	n/a
43	GATA3	chr10:96122566-96122992	T-47D	breast:	n/a	n/a
44	TFAP2C	chr10:96122393-96123248	Hela-S3	cervix:	n/a	chr10:96122737-96122746
45	MAFK	chr10:96122678-96122898	HepG2	liver:	n/a	n/a
46	STAT3	chr10:96121864-96123137	GM12878	blood:	n/a	chr10:96122145-96122154 chr10:96122339-96122347
47	POLR2A	chr10:96122365-96122987	HepG2	liver:	n/a	n/a
48	NFIC	chr10:96122341-96123256	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr10:96122513-96122951	HUVEC	blood vessel:	n/a	n/a
50	YY1	chr10:96122538-96122930	HCT-116	colon:	n/a	chr10:96122893-96122904 chr10:96122554-96122568 chr10:96122554-96122563

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96122660-96122710	ProgFib	skin:	n/a
2	chr10:96122679-96122729	GM12891	blood:	n/a
3	chr10:96122679-96122729	HMEC	breast:	n/a
4	chr10:96122679-96122729	HEEpiC	esophagus:	n/a
5	chr10:96122679-96122729	Hepatocyte	liver:	n/a
6	chr10:96122660-96122710	HMEC	breast:	n/a
7	chr10:96122660-96122710	HCPEpiC	choroid plexus:	n/a
8	chr10:96122660-96122710	PANC-1	pancreas:	n/a
9	chr10:96122660-96122710	ECC-1	luminal epithelium:	n/a
10	chr10:96122679-96122729	HCPEpiC	choroid plexus:	n/a
11	chr10:96122660-96122710	PrEC	prostate:	n/a
12	chr10:96122679-96122729	SKMC	muscle:	n/a
13	chr10:96122679-96122729	HRPEpiC	eye:	n/a
14	chr10:96122679-96122729	AG09319	gingival:	n/a
15	chr10:96122660-96122710	IMR90	lung:	fetal
16	chr10:96122679-96122729	MCF10A-Er-Src	breast:	n/a
17	chr10:96122679-96122729	HUVEC	blood vessel:	n/a
18	chr10:96122679-96122729	HL-60	blood:	n/a
19	chr10:96122679-96122729	NB4	blood:	n/a
20	chr10:96122660-96122710	A549	lung:	n/a
21	chr10:96122679-96122729	GM19239	blood:	n/a
22	chr10:96122660-96122710	HPAEpiC	pulmonary alveolar:	n/a
23	chr10:96122660-96122710	HEEpiC	esophagus:	n/a
24	chr10:96122660-96122710	HEK293	kidney:	embryo
25	chr10:96122679-96122729	HNPCEpiC	eye:	n/a
26	chr10:96122679-96122729	K562	blood:	n/a
27	chr10:96122660-96122710	SK-N-SH	brain:	n/a
28	chr10:96122679-96122729	ProgFib	skin:	n/a
29	chr10:96122660-96122710	HepG2	liver:	n/a
30	chr10:96122679-96122729	H1-hESC	embryonic stem cell:	embryo
31	chr10:96122660-96122710	AG10803	skin:	n/a
32	chr10:96122679-96122729	HCF	heart:	n/a
33	chr10:96122679-96122729	NT2-D1	testis:	n/a
34	chr10:96122679-96122729	HRE	kidney:	n/a
35	chr10:96122660-96122710	NB4	blood:	n/a
36	chr10:96122660-96122710	K562	blood:	n/a
37	chr10:96122679-96122729	HEK293	kidney:	embryo
38	chr10:96122660-96122710	GM12878	blood:	n/a
39	chr10:96122679-96122729	SK-N-MC	brain:	n/a
40	chr10:96122660-96122710	H1-hESC	embryonic stem cell:	embryo
41	chr10:96122679-96122729	U87	brain:	n/a
42	chr10:96122660-96122710	NH-A	brain:	n/a
43	chr10:96122660-96122710	GM19239	blood:	n/a
44	chr10:96122660-96122710	GM06990	blood:	n/a
45	chr10:96122660-96122710	HL-60	blood:	n/a
46	chr10:96122660-96122710	NHBE	bronchial:	n/a
47	chr10:96122660-96122710	HAEpiC	amniotic membrane:	n/a
48	chr10:96122679-96122729	LNCaP	prostate:	n/a
49	chr10:96122679-96122729	PANC-1	pancreas:	n/a
50	chr10:96122660-96122710	HUVEC	blood vessel:	n/a

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	chr10:96122660..96124273-chr10:96159058..96162494,4	K562	blood:
4	chr10:96121306..96124383-chr10:96159927..96163798,5	MCF-7	breast:
5	chr10:96120995..96123181-chr10:96304440..96307322,3	MCF-7	breast:
6	chr10:96121730..96122942-chr10:96161863..96162614,3	Hela-S3	cervix:
7	chr10:96121005..96123981-chr10:96160609..96162843,2	K562	blood:
8	chr10:96122596..96123346-chr5:179125101..179125792,2	Hela-S3	cervix:

Variant related genes	Relation type
NOC3L	TF binding region
NOC3L	CpG island
ENSG00000108239	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000100813	Chromatin interaction
ENSG00000179933	Chromatin interaction
ENSG00000119969	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11187855	0.82[AFR][1000 genomes]
rs11187887	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11187896	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11187898	0.81[AFR][1000 genomes]
rs11187903	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][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]
rs12098339	1.00[EUR][1000 genomes]
rs12243492	0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12249709	1.00[CHD][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs12250011	1.00[CHD][hapmap];0.96[LWK][hapmap];0.87[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs12254178	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs12259622	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269029	0.89[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61751497	1.00[EUR][1000 genomes]
rs6583938	1.00[CHD][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs7092351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7095510	0.85[AFR][1000 genomes]
rs7099137	0.85[AFR][1000 genomes]
rs73321857	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73323503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7358253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7902189	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7907525	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.82[AFR][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

No data

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

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

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