Variant report

Variant	rs7088648
Chromosome Location	chr10:98591721-98591722
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	POU2F2	chr10:98591475-98592053	GM12878	blood:	n/a	n/a
2	GABPA	chr10:98591585-98592015	K562	blood:	n/a	n/a
3	POLR2A	chr10:98591581-98592684	A549	lung:	n/a	n/a
4	SP1	chr10:98591353-98591896	A549	lung:	n/a	chr10:98591711-98591723 chr10:98591711-98591723 chr10:98591712-98591721 chr10:98591708-98591722
5	POLR2A	chr10:98591479-98593015	HL-60	blood:	n/a	n/a
6	GABPA	chr10:98591521-98591974	SK-N-SH	brain:	n/a	n/a
7	CEBPB	chr10:98591420-98591789	K562	blood:	n/a	n/a
8	POLR2A	chr10:98591420-98592955	HL-60	blood:	n/a	n/a
9	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
10	MYC	chr10:98591457-98593049	NB4	blood:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
11	POLR2A	chr10:98591424-98592224	HUVEC	blood vessel:	n/a	n/a
12	E2F6	chr10:98591590-98591976	K562	blood:	n/a	chr10:98591751-98591760 chr10:98591716-98591726 chr10:98591815-98591825 chr10:98591757-98591767
13	MAX	chr10:98591451-98592477	A549	lung:	n/a	chr10:98591712-98591722
14	NRF1	chr10:98591379-98592155	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr10:98591420-98591934	SK-N-SH	brain:	n/a	n/a
16	TFAP2C	chr10:98591468-98592154	Hela-S3	cervix:	n/a	n/a
17	E2F1	chr10:98591610-98592857	Hela-S3	cervix:	n/a	chr10:98591751-98591760 chr10:98592308-98592322 chr10:98591716-98591726 chr10:98591815-98591825 chr10:98591757-98591767
18	ZBTB7A	chr10:98591573-98592009	K562	blood:	n/a	n/a
19	POLR2A	chr10:98591427-98591904	GM12891	blood:	n/a	n/a
20	POLR2A	chr10:98591428-98591961	GM12892	blood:	n/a	n/a
21	EP300	chr10:98591504-98592098	GM12878	blood:	n/a	chr10:98591775-98591782 chr10:98591556-98591570
22	RCOR1	chr10:98591438-98592193	K562	blood:	n/a	n/a
23	MAX	chr10:98591517-98592090	K562	blood:	n/a	chr10:98591712-98591722
24	REST	chr10:98591494-98594423	H1-neurons	neurons:	n/a	chr10:98592738-98592751 chr10:98591704-98591717 chr10:98592904-98592917 chr10:98591754-98591767
25	TCF7L2	chr10:98591511-98591956	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr10:98591680-98591830	HRE	kidney:	n/a	n/a
27	CEBPB	chr10:98591514-98591779	HepG2	liver:	n/a	n/a
28	CTCF	chr10:98591700-98591850	GM12874	blood:	n/a	n/a
29	UBTF	chr10:98591366-98593774	K562	blood:	n/a	n/a
30	MAZ	chr10:98591445-98593486	GM12878	blood:	n/a	chr10:98593391-98593400 chr10:98591712-98591722 chr10:98593017-98593027
31	RAD21	chr10:98591676-98591929	K562	blood:	n/a	chr10:98591808-98591822
32	RAD21	chr10:98591485-98591852	SK-N-SH_RA	brain:	n/a	chr10:98591808-98591822
33	MAX	chr10:98591432-98593101	HepG2	liver:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
34	POLR2A	chr10:98591371-98592863	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr10:98591347-98593316	K562	blood:	n/a	chr10:98591712-98591722 chr10:98593017-98593027
36	POLR2A	chr10:98591450-98593016	GM15510	blood:	n/a	n/a
37	HMGN3	chr10:98591559-98593088	K562	blood:	n/a	n/a
38	MYC	chr10:98591214-98592929	A549	lung:	n/a	chr10:98591712-98591722
39	ELF1	chr10:98591577-98592023	K562	blood:	n/a	chr10:98591809-98591821 chr10:98591775-98591784 chr10:98591774-98591785
40	RAD21	chr10:98591684-98591816	K562	blood:	n/a	n/a
41	MYBL2	chr10:98591414-98591836	HepG2	liver:	n/a	n/a
42	HA-E2F1	chr10:98591423-98591932	MCF-7	breast:	n/a	chr10:98591751-98591760 chr10:98591716-98591726 chr10:98591815-98591825 chr10:98591757-98591767
43	CEBPD	chr10:98591419-98591875	K562	blood:	n/a	n/a
44	RCOR1	chr10:98591356-98591884	GM12878	blood:	n/a	n/a
45	GABPA	chr10:98591543-98591925	K562	blood:	n/a	n/a
46	POLR2A	chr10:98591396-98592280	K562	blood:	n/a	n/a
47	CTCF	chr10:98591680-98591830	WERI-Rb-1	eye:	n/a	n/a
48	GABPA	chr10:98591697-98591869	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr10:98591461-98593076	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:98591556-98592949	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:98591262..98592221-chr5:108083306..108084137,2	Hela-S3	cervix:
2	chr10:98590420..98592007-chr10:98615843..98619097,3	K562	blood:
3	chr10:98591162..98592122-chr7:106809872..106810661,2	Hela-S3	cervix:
4	chr10:98398475..98400373-chr10:98590281..98591916,2	MCF-7	breast:
5	chr10:98345733..98347828-chr10:98591279..98593531,2	MCF-7	breast:
6	chr10:98392223..98394189-chr10:98590324..98593027,3	MCF-7	breast:
7	chr10:98591566..98592141-chr12:52449274..52450124,2	Hela-S3	cervix:
8	chr10:98272672..98275170-chr10:98590720..98593680,2	MCF-7	breast:
9	chr10:98133863..98136449-chr10:98590863..98592811,2	MCF-7	breast:
10	chr10:98523538..98526378-chr10:98589191..98591883,2	MCF-7	breast:
11	chr10:98345052..98347789-chr10:98590945..98593407,3	K562	blood:
12	chr10:98591605..98592442-chr19:55628620..55629157,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3AP1-6	chr10:98590424-98592003	NONHSAT015837

Variant related genes	Relation type
MIR607	TF binding region
LCOR	TF binding region
ENSG00000123358	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000155629	Chromatin interaction
ENSG00000095587	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000077147	Chromatin interaction
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10430660	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10882847	0.91[ASN][1000 genomes]
rs10882852	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10882855	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11188935	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11188950	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11188952	0.90[ASN][1000 genomes]
rs11188962	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11188964	0.84[ASN][1000 genomes]
rs12257954	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12265203	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924085	0.81[AMR][1000 genomes];0.90[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	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	chr10:98591000-98591800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr10:98591000-98591800	Active TSS	Right Atrium	heart
9	chr10:98591000-98593200	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr10:98591000-98593200	Active TSS	Thymus	Thymus
11	chr10:98591000-98593400	Active TSS	Stomach Smooth Muscle	stomach
12	chr10:98591000-98593400	Active TSS	NH-A	brain
13	chr10:98591000-98593800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:98591000-98594000	Active TSS	Fetal Lung	lung
15	chr10:98591000-98594400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:98591000-98594800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:98591000-98594800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:98591200-98591800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr10:98591200-98592000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:98591200-98592800	Active TSS	Colonic Mucosa	Colon
21	chr10:98591200-98593000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:98591200-98593000	Active TSS	Brain Germinal Matrix	brain
23	chr10:98591200-98593200	Active TSS	Primary T cells fromperipheralblood	blood
24	chr10:98591200-98593200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:98591200-98593200	Active TSS	Fetal Thymus	thymus
26	chr10:98591200-98593200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr10:98591200-98593200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr10:98591200-98593400	Active TSS	Fetal Muscle Leg	muscle
29	chr10:98591200-98593600	Active TSS	Brain Angular Gyrus	brain
30	chr10:98591200-98593600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr10:98591200-98593600	Active TSS	Brain Substantia Nigra	brain
32	chr10:98591200-98593600	Active TSS	Psoas Muscle	Psoas
33	chr10:98591200-98593600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr10:98591200-98593800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:98591200-98593800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:98591200-98593800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr10:98591200-98594000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr10:98591200-98594000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:98591200-98594000	Active TSS	Fetal Brain Female	brain
40	chr10:98591200-98594000	Active TSS	HMEC	breast
41	chr10:98591200-98594200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr10:98591200-98594200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:98591200-98594400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr10:98591200-98594400	Active TSS	HSMMtube	muscle
45	chr10:98591200-98594400	Active TSS	K562	blood
46	chr10:98591400-98591800	Active TSS	Fetal Heart	heart
47	chr10:98591400-98592400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:98591400-98593000	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr10:98591400-98593200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:98591400-98593200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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