Variant report

Variant	rs530258171
Chromosome Location	chr10:98592514-98592515
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	RCOR1	chr10:98592401-98592792	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:98591966-98592751	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr10:98591581-98592684	A549	lung:	n/a	n/a
4	POLR2A	chr10:98591479-98593015	HL-60	blood:	n/a	n/a
5	CHD2	chr10:98592018-98592815	K562	blood:	n/a	chr10:98592561-98592571
6	POLR2A	chr10:98591420-98592955	HL-60	blood:	n/a	n/a
7	EGR1	chr10:98591602-98592858	GM12878	blood:	n/a	chr10:98591711-98591721 chr10:98591716-98591726 chr10:98592822-98592831 chr10:98592069-98592080 chr10:98592841-98592851 chr10:98592255-98592265 chr10:98592729-98592742
8	MYC	chr10:98591457-98593049	NB4	blood:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
9	HEY1	chr10:98592429-98592943	K562	blood:	n/a	chr10:98592593-98592608 chr10:98592695-98592710 chr10:98592686-98592701
10	E2F1	chr10:98591610-98592857	Hela-S3	cervix:	n/a	chr10:98591751-98591760 chr10:98592308-98592322 chr10:98591716-98591726 chr10:98591815-98591825 chr10:98591757-98591767
11	POLR2A	chr10:98592501-98592661	H1-hESC	embryonic stem cell:	n/a	n/a
12	RUNX3	chr10:98592472-98593012	GM12878	blood:	n/a	n/a
13	REST	chr10:98591494-98594423	H1-neurons	neurons:	n/a	chr10:98592738-98592751 chr10:98591704-98591717 chr10:98592904-98592917 chr10:98591754-98591767
14	TBP	chr10:98592477-98592895	HepG2	liver:	n/a	n/a
15	EGR1	chr10:98592302-98592835	K562	blood:	n/a	chr10:98592822-98592831 chr10:98592729-98592742
16	ZNF143	chr10:98592223-98592937	H1-hESC	embryonic stem cell:	n/a	chr10:98592736-98592754 chr10:98592832-98592842
17	UBTF	chr10:98591366-98593774	K562	blood:	n/a	n/a
18	BCLAF1	chr10:98592412-98592953	GM12878	blood:	n/a	chr10:98592735-98592744 chr10:98592599-98592612
19	MAZ	chr10:98591445-98593486	GM12878	blood:	n/a	chr10:98593391-98593400 chr10:98591712-98591722 chr10:98593017-98593027
20	BHLHE40	chr10:98592051-98592980	HepG2	liver:	n/a	chr10:98592672-98592688 chr10:98592830-98592846 chr10:98592802-98592818 chr10:98592683-98592699 chr10:98592247-98592263 chr10:98592805-98592821
21	MAX	chr10:98591432-98593101	HepG2	liver:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
22	POLR2A	chr10:98591371-98592863	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr10:98591347-98593316	K562	blood:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
24	POLR2A	chr10:98591450-98593016	GM15510	blood:	n/a	n/a
25	HMGN3	chr10:98591559-98593088	K562	blood:	n/a	n/a
26	MYC	chr10:98591214-98592929	A549	lung:	n/a	chr10:98591712-98591722
27	MAX	chr10:98592229-98592909	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr10:98591726-98592962	MCF-7	breast:	n/a	n/a
29	POLR2A	chr10:98591461-98593076	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:98591556-98592949	MCF-7	breast:	n/a	n/a
31	TCF12	chr10:98592504-98592760	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:98592290-98593006	GM12892	blood:	n/a	n/a
33	ELF1	chr10:98592301-98593064	GM12878	blood:	n/a	chr10:98592839-98592851 chr10:98592598-98592610
34	POLR2A	chr10:98591967-98592874	K562	blood:	n/a	n/a
35	HEY1	chr10:98592395-98592917	HepG2	liver:	n/a	chr10:98592593-98592608 chr10:98592695-98592710 chr10:98592686-98592701
36	TAF1	chr10:98591982-98592863	K562	blood:	n/a	n/a
37	POU2F2	chr10:98592436-98593061	GM12878	blood:	n/a	chr10:98593016-98593028 chr10:98593008-98593020
38	TAF1	chr10:98592359-98592673	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr10:98591345-98592558	PANC-1	pancreas:	n/a	n/a
40	POLR2A	chr10:98591453-98593346	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr10:98591428-98593044	Hela-S3	cervix:	n/a	n/a
42	MAX	chr10:98592239-98592818	K562	blood:	n/a	n/a
43	HDAC2	chr10:98592473-98592740	K562	blood:	n/a	n/a
44	YY1	chr10:98591699-98593216	SK-N-SH	brain:	n/a	chr10:98591818-98591829 chr10:98593183-98593194 chr10:98591709-98591723 chr10:98592835-98592849 chr10:98592598-98592612 chr10:98592051-98592068 chr10:98592801-98592810 chr10:98592057-98592067 chr10:98592628-98592639 chr10:98592603-98592612 chr10:98592982-98592996 chr10:98591719-98591730 chr10:98591751-98591760 chr10:98592537-98592548 chr10:98591814-98591828 chr10:98592832-98592846
45	MAZ	chr10:98591619-98593221	HepG2	liver:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
46	MXI1	chr10:98591694-98593670	HepG2	liver:	n/a	n/a
47	CREB1	chr10:98591549-98593169	A549	lung:	n/a	n/a
48	TBL1XR1	chr10:98591208-98592684	K562	blood:	n/a	n/a
49	ZBTB7A	chr10:98592212-98593132	K562	blood:	n/a	chr10:98592948-98592959
50	SIN3A	chr10:98591537-98593859	H1-hESC	embryonic stem cell:	n/a	chr10:98591792-98591805 chr10:98592747-98592756

No.	Distal block	Cell Line	Cell type
1	chr10:98592030..98592614-chr3:101405121..101405644,2	Hela-S3	cervix:
2	chr10:98592149..98592649-chr14:55493692..55494488,2	Hela-S3	cervix:
3	chr1:224622290..224622794-chr10:98591846..98592614,2	Hela-S3	cervix:
4	chr10:98591909..98592710-chr6:33678934..33679670,2	Hela-S3	cervix:
5	chr10:98345733..98347828-chr10:98591279..98593531,2	MCF-7	breast:
6	chr10:98392223..98394189-chr10:98590324..98593027,3	MCF-7	breast:
7	chr10:98591738..98592804-chr16:29973157..29974128,3	Hela-S3	cervix:
8	chr10:98592217..98593132-chr9:91925720..91926664,2	Hela-S3	cervix:
9	chr10:98272672..98275170-chr10:98590720..98593680,2	MCF-7	breast:
10	chr10:98133863..98136449-chr10:98590863..98592811,2	MCF-7	breast:
11	chr10:98345052..98347789-chr10:98590945..98593407,3	K562	blood:
12	chr10:98592013..98592977-chr3:143690256..143690764,2	Hela-S3	cervix:

Variant related genes	Relation type
LCOR	TF binding region
MIR607	TF binding region
ENSG00000137288	Chromatin interaction
ENSG00000149932	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000181744	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000077147	Chromatin interaction
ENSG00000095587	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000155629	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv895910	chr10:98386483-98640994	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1053801	chr10:98506832-98610101	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv825532	chr10:98567434-98618034	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	esv3427855	chr10:98590262-98594060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3419281	chr10:98590962-98594060	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3420262	chr10:98590987-98593835	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr10:98590200-98594600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr10:98590400-98594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr10:98590400-98594400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:98590600-98594400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:98590800-98593600	Active TSS	Rectal Smooth Muscle	rectum
6	chr10:98590800-98594000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:98591000-98593200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr10:98591000-98593200	Active TSS	Thymus	Thymus
9	chr10:98591000-98593400	Active TSS	Stomach Smooth Muscle	stomach
10	chr10:98591000-98593400	Active TSS	NH-A	brain
11	chr10:98591000-98593800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:98591000-98594000	Active TSS	Fetal Lung	lung
13	chr10:98591000-98594400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:98591000-98594800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:98591000-98594800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:98591200-98592800	Active TSS	Colonic Mucosa	Colon
17	chr10:98591200-98593000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:98591200-98593000	Active TSS	Brain Germinal Matrix	brain
19	chr10:98591200-98593200	Active TSS	Primary T cells fromperipheralblood	blood
20	chr10:98591200-98593200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:98591200-98593200	Active TSS	Fetal Thymus	thymus
22	chr10:98591200-98593200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr10:98591200-98593200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr10:98591200-98593400	Active TSS	Fetal Muscle Leg	muscle
25	chr10:98591200-98593600	Active TSS	Brain Angular Gyrus	brain
26	chr10:98591200-98593600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr10:98591200-98593600	Active TSS	Brain Substantia Nigra	brain
28	chr10:98591200-98593600	Active TSS	Psoas Muscle	Psoas
29	chr10:98591200-98593600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr10:98591200-98593800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:98591200-98593800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:98591200-98593800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr10:98591200-98594000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr10:98591200-98594000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:98591200-98594000	Active TSS	Fetal Brain Female	brain
36	chr10:98591200-98594000	Active TSS	HMEC	breast
37	chr10:98591200-98594200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr10:98591200-98594200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:98591200-98594400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr10:98591200-98594400	Active TSS	HSMMtube	muscle
41	chr10:98591200-98594400	Active TSS	K562	blood
42	chr10:98591400-98593000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr10:98591400-98593200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:98591400-98593200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:98591400-98593200	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr10:98591400-98593200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:98591400-98593200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:98591400-98593200	Active TSS	Fetal Muscle Trunk	muscle
49	chr10:98591400-98593200	Active TSS	Lung	lung
50	chr10:98591400-98593400	Active TSS	Brain Anterior Caudate	brain

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