Variant report

Variant	rs9516886
Chromosome Location	chr13:97926937-97926938
allele	C/T
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	SP1	chr13:97926693-97927990	HCT-116	colon:	n/a	n/a
2	ZEB1	chr13:97926898-97927587	HepG2	liver:	n/a	n/a
3	NFIC	chr13:97926680-97928623	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr13:97926889-97927452	HepG2	liver:	n/a	chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927130-97927141 chr13:97927133-97927140 chr13:97927187-97927198
5	MAX	chr13:97926873-97927865	HCT-116	colon:	n/a	chr13:97927133-97927142
6	JUND	chr13:97926781-97927963	HCT-116	colon:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140
7	STAT3	chr13:97926933-97927841	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr13:97926859-97927924	HUVEC	blood vessel:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140
9	GATA3	chr13:97926733-97928145	A549	lung:	n/a	chr13:97927802-97927815 chr13:97927806-97927813 chr13:97927799-97927820 chr13:97927801-97927817 chr13:97927806-97927813 chr13:97927665-97927674 chr13:97927806-97927813
10	CEBPB	chr13:97926887-97927926	Hela-S3	cervix:	n/a	chr13:97926999-97927012
11	SMC3	chr13:97926790-97927902	HepG2	liver:	n/a	n/a
12	MYBL2	chr13:97926705-97927956	HepG2	liver:	n/a	n/a
13	HDAC2	chr13:97926669-97927471	HepG2	liver:	n/a	chr13:97926944-97926952
14	JUND	chr13:97926799-97928422	SK-N-SH	brain:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140
15	GATA3	chr13:97926687-97929705	SK-N-SH	brain:	n/a	chr13:97927802-97927815 chr13:97927806-97927813 chr13:97927799-97927820 chr13:97927801-97927817 chr13:97927806-97927813 chr13:97927665-97927674 chr13:97927806-97927813
16	CEBPB	chr13:97926908-97928064	IMR90	lung:	n/a	chr13:97926999-97927012
17	FOXA2	chr13:97926782-97928045	HepG2	liver:	n/a	n/a
18	EP300	chr13:97926915-97927779	HepG2	liver:	n/a	chr13:97927000-97927014 chr13:97927133-97927142
19	EP300	chr13:97926886-97927843	Hela-S3	cervix:	n/a	chr13:97927000-97927014 chr13:97927133-97927142
20	ARID3A	chr13:97926627-97928747	HepG2	liver:	n/a	n/a
21	JUND	chr13:97926786-97928763	SK-N-SH	brain:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140
22	FOXA1	chr13:97926666-97927986	HepG2	liver:	n/a	chr13:97927309-97927324
23	MXI1	chr13:97926920-97927819	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr13:97926882-97927514	HepG2	liver:	n/a	n/a
25	MAFK	chr13:97926710-97927831	HepG2	liver:	n/a	chr13:97927455-97927470
26	FOSL2	chr13:97926736-97928457	SK-N-SH	brain:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927130-97927141 chr13:97927133-97927140 chr13:97927187-97927198
27	MAX	chr13:97926853-97927495	HepG2	liver:	n/a	chr13:97927133-97927142
28	MEF2A	chr13:97926682-97927572	SK-N-SH	brain:	n/a	chr13:97927037-97927054 chr13:97927133-97927141
29	TCF7L2	chr13:97926829-97927520	HepG2	liver:	n/a	n/a
30	TCF7L2	chr13:97926799-97927876	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr13:97926748-97928038	HCT-116	colon:	n/a	chr13:97926999-97927012
32	SP1	chr13:97926773-97927969	HCT-116	colon:	n/a	n/a
33	POLR2A	chr13:97926843-97928743	HepG2	liver:	n/a	n/a
34	FOS	chr13:97926916-97927855	MCF10A-Er-Src	breast:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140
35	FOXM1	chr13:97926836-97927923	SK-N-SH	brain:	n/a	n/a
36	FOSL2	chr13:97926877-97927478	HepG2	liver:	n/a	chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927130-97927141 chr13:97927133-97927140 chr13:97927187-97927198
37	TCF12	chr13:97926708-97928095	A549	lung:	n/a	n/a
38	EP300	chr13:97926701-97929600	SK-N-SH	brain:	n/a	chr13:97929121-97929128 chr13:97927000-97927014 chr13:97929409-97929418 chr13:97927867-97927881 chr13:97927133-97927142 chr13:97928682-97928689
39	EP300	chr13:97926821-97927973	A549	lung:	n/a	chr13:97927000-97927014 chr13:97927867-97927881 chr13:97927133-97927142
40	EP300	chr13:97926702-97929623	SK-N-SH	brain:	n/a	chr13:97929121-97929128 chr13:97927000-97927014 chr13:97929409-97929418 chr13:97927867-97927881 chr13:97927133-97927142 chr13:97928682-97928689
41	POLR2A	chr13:97926701-97927323	K562	blood:	n/a	n/a
42	MAFK	chr13:97926850-97927798	HepG2	liver:	n/a	chr13:97927455-97927470
43	CBX3	chr13:97926876-97927940	HCT-116	colon:	n/a	n/a
44	HNF4G	chr13:97926596-97927476	HepG2	liver:	n/a	chr13:97926943-97926958 chr13:97926942-97926960 chr13:97926944-97926952 chr13:97926945-97926957 chr13:97926943-97926951
45	JUND	chr13:97926878-97928003	Hela-S3	cervix:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140
46	MYC	chr13:97926869-97927841	MCF10A-Er-Src	breast:	n/a	chr13:97927133-97927142
47	MAX	chr13:97926932-97927448	A549	lung:	n/a	chr13:97927133-97927142
48	RXRA	chr13:97926771-97928460	SK-N-SH	brain:	n/a	chr13:97927664-97927673
49	MXI1	chr13:97926888-97927949	IMR90	lung:	n/a	n/a
50	JUND	chr13:97926929-97927846	HepG2	liver:	n/a	chr13:97927665-97927672 chr13:97927187-97927197 chr13:97927133-97927141 chr13:97927133-97927141 chr13:97927187-97927197 chr13:97927187-97927197 chr13:97927664-97927672 chr13:97927133-97927140

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:97915258..97917739-chr13:97924831..97926960,2	MCF-7	breast:

Variant related genes	Relation type
MBNL2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11617901	0.81[EUR][1000 genomes]
rs1410759	0.86[CHB][hapmap]
rs1974086	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs2389822	0.87[YRI][hapmap]
rs4771989	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs4771991	0.82[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap]
rs6491347	0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7999382	0.83[CHD][hapmap]
rs9513222	0.92[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9513225	0.82[ASW][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap]
rs9516884	0.85[CHD][hapmap]
rs9516887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9516888	0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9516890	0.82[ASW][hapmap];0.80[MEX][hapmap]
rs9556695	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045777	chr13:97875574-97955134	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97910600-97927600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:97910600-97935000	Weak transcription	Colonic Mucosa	Colon
3	chr13:97914200-97927600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr13:97914200-97927800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr13:97914200-97960200	Weak transcription	Fetal Brain Male	brain
6	chr13:97914400-97927400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:97914400-97928000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:97914400-97929000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:97914600-97927200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:97914600-97927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:97915400-97927800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:97919000-97935000	Weak transcription	Gastric	stomach
13	chr13:97920000-97931200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:97920200-97927800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:97920200-97927800	Weak transcription	Fetal Thymus	thymus
16	chr13:97920200-97930800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:97920400-97932200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:97920800-97927800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:97921000-97927200	Weak transcription	Primary B cells from cord blood	blood
20	chr13:97921200-97927800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:97921200-97928000	Weak transcription	Placenta	Placenta
22	chr13:97921400-97932800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:97921400-97934800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:97921600-97927800	Weak transcription	Primary T cells from cord blood	blood
25	chr13:97921600-97932800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr13:97921800-97928200	Weak transcription	Ovary	ovary
27	chr13:97922000-97929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:97922000-97930200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:97922000-97932200	Weak transcription	Thymus	Thymus
30	chr13:97922000-97933200	Weak transcription	Spleen	Spleen
31	chr13:97922200-97927000	Weak transcription	K562	blood
32	chr13:97924000-97927800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:97924000-97928200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr13:97924000-97929200	Weak transcription	Right Ventricle	heart
35	chr13:97924600-97927800	Enhancers	Fetal Lung	lung
36	chr13:97924600-97929000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr13:97924800-97927200	Enhancers	Stomach Smooth Muscle	stomach
38	chr13:97924800-97927200	Enhancers	NH-A	brain
39	chr13:97924800-97928000	Enhancers	HMEC	breast
40	chr13:97924800-97928200	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:97924800-97928200	Enhancers	Osteobl	bone
42	chr13:97924800-97936200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:97925000-97927000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:97925000-97928000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:97925200-97927200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:97925200-97927800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:97925200-97927800	Enhancers	NHLF	lung
48	chr13:97925200-97928000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:97925200-97928000	Enhancers	Brain Substantia Nigra	brain
50	chr13:97925200-97928200	Enhancers	Brain Anterior Caudate	brain

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