Variant report

Variant	rs17092618
Chromosome Location	chr10:116697960-116697961
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:470)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:116697620-116699281	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr10:116697759-116698119	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:116697826-116698175	SK-N-MC	brain:	n/a	n/a
4	POU2F2	chr10:116697917-116698084	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:116697721-116698312	HCT-116	colon:	n/a	n/a
6	SIX5	chr10:116697685-116698067	H1-hESC	embryonic stem cell:	n/a	chr10:116697877-116697886 chr10:116697875-116697884
7	POLR2A	chr10:116697808-116698182	HepG2	liver:	n/a	n/a
8	TAF1	chr10:116697836-116698408	H1-neurons	neurons:	n/a	n/a
9	SRF	chr10:116697804-116698082	HepG2	liver:	n/a	n/a
10	FOSL2	chr10:116697695-116698182	A549	lung:	n/a	n/a
11	MAX	chr10:116697774-116698396	K562	blood:	n/a	chr10:116697961-116697970
12	RAD21	chr10:116697712-116698041	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr10:116697800-116698217	HUVEC	blood vessel:	n/a	n/a
14	MTA3	chr10:116697658-116698355	GM12878	blood:	n/a	n/a
15	TCF7L2	chr10:116697839-116698322	PANC-1	pancreas:	n/a	n/a
16	SIX5	chr10:116697673-116698092	K562	blood:	n/a	chr10:116697877-116697886 chr10:116697875-116697884
17	POLR2A	chr10:116697794-116698535	H1-hESC	embryonic stem cell:	n/a	n/a
18	TCF12	chr10:116697643-116698570	A549	lung:	n/a	n/a
19	TAF1	chr10:116697765-116698359	SK-N-SH	brain:	n/a	n/a
20	SIN3AK20	chr10:116697697-116698639	PANC-1	pancreas:	n/a	n/a
21	YY1	chr10:116697763-116698628	SK-N-SH	brain:	n/a	n/a
22	SRF	chr10:116697591-116698435	MCF-7	breast:	n/a	n/a
23	USF1	chr10:116697832-116698133	A549	lung:	n/a	n/a
24	HNF4A	chr10:116697610-116698022	HepG2	liver:	n/a	chr10:116697829-116697837 chr10:116697827-116697835
25	ATF3	chr10:116697687-116698181	GM12878	blood:	n/a	n/a
26	SPI1	chr10:116697733-116698082	GM12891	blood:	n/a	n/a
27	POLR2A	chr10:116697818-116698253	K562	blood:	n/a	n/a
28	STAT3	chr10:116697805-116698081	MCF10A-Er-Src	breast:	n/a	n/a
29	SRF	chr10:116697665-116698241	ECC-1	luminal epithelium:	n/a	n/a
30	SIN3AK20	chr10:116697885-116698213	K562	blood:	n/a	n/a
31	YY1	chr10:116697830-116698250	K562	blood:	n/a	n/a
32	CREB1	chr10:116697607-116698485	GM12878	blood:	n/a	n/a
33	CEBPB	chr10:116697656-116698209	HepG2	liver:	n/a	chr10:116697958-116697969
34	SPI1	chr10:116697763-116698184	HL-60	blood:	n/a	n/a
35	TBP	chr10:116697767-116698413	H1-hESC	embryonic stem cell:	n/a	n/a
36	USF2	chr10:116697767-116698111	Hela-S3	cervix:	n/a	n/a
37	SRF	chr10:116697418-116698618	HCT-116	colon:	n/a	n/a
38	MAX	chr10:116697698-116698453	A549	lung:	n/a	chr10:116697961-116697970
39	RFX5	chr10:116697694-116698296	HepG2	liver:	n/a	n/a
40	BRCA1	chr10:116697736-116698156	Hela-S3	cervix:	n/a	n/a
41	PML	chr10:116697784-116698080	GM12878	blood:	n/a	n/a
42	ZBTB33	chr10:116697769-116698050	HepG2	liver:	n/a	n/a
43	MYBL2	chr10:116697497-116698330	HepG2	liver:	n/a	n/a
44	FOXA1	chr10:116697747-116698066	T-47D	breast:	n/a	n/a
45	POLR2A	chr10:116697812-116698245	GM10847	blood:	n/a	n/a
46	PAX5	chr10:116697843-116698101	GM12878	blood:	n/a	n/a
47	SRF	chr10:116697704-116698174	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr10:116697805-116698457	GM12878	blood:	n/a	n/a
49	SIX5	chr10:116697776-116698044	K562	blood:	n/a	chr10:116697877-116697886 chr10:116697875-116697884
50	FOXA2	chr10:116697596-116698063	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:116697924-116697974	CMK	blood:	n/a
2	chr10:116697924-116697974	HEK293	kidney:	embryo
3	chr10:116697924-116697974	HRCEpiC	kidney:	n/a
4	chr10:116697924-116697974	HMEC	breast:	n/a
5	chr10:116697924-116697974	HEEpiC	esophagus:	n/a
6	chr10:116697924-116697974	AoSMC	blood vessel:	n/a
7	chr10:116697924-116697974	NHDF-neo	bronchial:	n/a
8	chr10:116697924-116697974	H1-hESC	embryonic stem cell:	embryo
9	chr10:116697924-116697974	NH-A	brain:	n/a
10	chr10:116697924-116697974	LNCaP	prostate:	n/a
11	chr10:116697924-116697974	SK-N-SH	brain:	n/a
12	chr10:116697924-116697974	HCF	heart:	n/a
13	chr10:116697924-116697974	Hepatocyte	liver:	n/a
14	chr10:116697924-116697974	SKMC	muscle:	n/a
15	chr10:116697924-116697974	HUVEC	blood vessel:	n/a
16	chr10:116697924-116697974	AG04449	skin:	fetal
17	chr10:116697924-116697974	ECC-1	luminal epithelium:	n/a
18	chr10:116697924-116697974	Hela-S3	cervix:	n/a
19	chr10:116697924-116697974	GM06990	blood:	n/a
20	chr10:116697924-116697974	HRE	kidney:	n/a
21	chr10:116697924-116697974	PFSK-1	brain:	n/a
22	chr10:116697924-116697974	T-47D	breast:	n/a
23	chr10:116697924-116697974	MCF-7	breast:	n/a
24	chr10:116697924-116697974	PrEC	prostate:	n/a
25	chr10:116697924-116697974	SAEC	small airway:	n/a
26	chr10:116697924-116697974	HIPEpiC	eye:	n/a
27	chr10:116697924-116697974	U87	brain:	n/a
28	chr10:116697924-116697974	Jurkat	blood:	n/a
29	chr10:116697924-116697974	BJ	skin:	n/a
30	chr10:116697924-116697974	K562	blood:	n/a
31	chr10:116697924-116697974	IMR90	lung:	fetal
32	chr10:116697924-116697974	HRPEpiC	eye:	n/a
33	chr10:116697924-116697974	AG09309	skin:	n/a
34	chr10:116697924-116697974	HCPEpiC	choroid plexus:	n/a
35	chr10:116697924-116697974	HL-60	blood:	n/a
36	chr10:116697924-116697974	HPAEpiC	pulmonary alveolar:	n/a
37	chr10:116697924-116697974	BE2_C	brain:	n/a
38	chr10:116697924-116697974	NT2-D1	testis:	n/a
39	chr10:116697924-116697974	GM12892	blood:	n/a
40	chr10:116697924-116697974	HNPCEpiC	eye:	n/a
41	chr10:116697924-116697974	SK-N-SH_RA	brain:	n/a
42	chr10:116697924-116697974	HCM	heart:	n/a
43	chr10:116697924-116697974	HepG2	liver:	n/a
44	chr10:116697924-116697974	MCF10A-Er-Src	breast:	n/a
45	chr10:116697924-116697974	AG04450	lung:	fetal
46	chr10:116697924-116697974	AG10803	skin:	n/a
47	chr10:116697924-116697974	AG09319	gingival:	n/a
48	chr10:116697924-116697974	ProgFib	skin:	n/a
49	chr10:116697924-116697974	A549	lung:	n/a
50	chr10:116697924-116697974	RPTEC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:116697582..116698356-chr11:94964692..94965293,2	NB4	blood:
2	chr10:116696953..116700606-chr10:116852065..116855116,4	MCF-7	breast:
3	chr10:116697881..116698507-chr9:34619924..34620603,2	NB4	blood:
4	chr10:116697901..116698524-chr14:74485364..74486290,2	NB4	blood:

No data

Variant related genes	Relation type
TRUB1	TF binding region
TRUB1	CpG island
ENSG00000107518	Chromatin interaction
ENSG00000187097	Chromatin interaction
ENSG00000137100	Chromatin interaction
ENSG00000119636	Chromatin interaction
ENSG00000245552	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11813771	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55756637	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56127697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227143	0.94[EUR][1000 genomes]
rs56797803	0.94[EUR][1000 genomes]
rs56994683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57109309	0.97[EUR][1000 genomes]
rs57381210	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57431627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58443683	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58536462	0.97[EUR][1000 genomes]
rs60851135	0.94[EUR][1000 genomes]
rs61156418	0.94[EUR][1000 genomes]
rs61531306	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6585304	1.00[CEU][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6585305	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6585307	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6585312	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6585314	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6585315	0.94[EUR][1000 genomes]
rs7068264	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7077894	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7089523	0.81[EUR][1000 genomes]
rs7091302	0.91[EUR][1000 genomes]
rs7092748	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7092841	0.81[EUR][1000 genomes]
rs73372638	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372697	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73372698	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73372700	0.94[EUR][1000 genomes]
rs7898531	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7898599	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7898889	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7905669	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7912826	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7917493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7917761	0.97[EUR][1000 genomes]
rs999757	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv831996	chr10:116601552-116772968	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1039002	chr10:116643095-116879483	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv2761634	chr10:116643095-116879495	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1045654	chr10:116654574-116879483	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043242	chr10:116655057-116883386	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv831997	chr10:116689552-116855698	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17092618	ENSG00000165832	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116694000-116698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:116697600-116698200	Active TSS	HUVEC	blood vessel
3	chr10:116697600-116698400	Active TSS	Primary T cells from cord blood	blood
4	chr10:116697600-116698400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:116697600-116698400	Active TSS	Adipose Nuclei	Adipose
6	chr10:116697600-116698400	Active TSS	Brain Hippocampus Middle	brain
7	chr10:116697600-116698400	Active TSS	Stomach Smooth Muscle	stomach
8	chr10:116697600-116698400	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr10:116697600-116698600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:116697600-116698600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:116697600-116698600	Active TSS	Brain Anterior Caudate	brain
12	chr10:116697600-116698600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr10:116697600-116698600	Active TSS	Brain Substantia Nigra	brain
14	chr10:116697600-116698600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr10:116697600-116698600	Active TSS	Fetal Kidney	kidney
16	chr10:116697600-116698600	Active TSS	Hela-S3	cervix
17	chr10:116697600-116698800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:116697600-116698800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:116697600-116698800	Active TSS	Brain Angular Gyrus	brain
20	chr10:116697600-116698800	Active TSS	Brain Cingulate Gyrus	brain
21	chr10:116697600-116698800	Active TSS	NHDF-Ad	bronchial
22	chr10:116697600-116698800	Active TSS	Osteobl	bone
23	chr10:116697600-116699000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr10:116697600-116699000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:116697600-116699000	Active TSS	GM12878-XiMat	blood
26	chr10:116697600-116699200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr10:116697600-116699400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:116697600-116699400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr10:116697600-116699400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr10:116697600-116699400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:116697600-116699400	Active TSS	K562	blood
32	chr10:116697600-116699600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr10:116697600-116699600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr10:116697600-116699600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:116697600-116699600	Active TSS	HMEC	breast
36	chr10:116697800-116698000	Active TSS	Primary hematopoietic stem cells	blood
37	chr10:116697800-116698000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr10:116697800-116698000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:116697800-116698000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:116697800-116698000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:116697800-116698000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:116697800-116698000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr10:116697800-116698200	Active TSS	Primary B cells from cord blood	blood
44	chr10:116697800-116698200	Active TSS	Primary T cells fromperipheralblood	blood
45	chr10:116697800-116698200	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr10:116697800-116698200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:116697800-116698200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr10:116697800-116698200	Active TSS	Liver	Liver
49	chr10:116697800-116698200	Active TSS	Spleen	Spleen
50	chr10:116697800-116698200	Active TSS	HepG2	liver

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