Variant report

Variant	rs2296502
Chromosome Location	chr13:50114981-50114982
allele	A/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	RCOR1	chr13:50114769-50115102	K562	blood:	n/a	n/a
2	MYC	chr13:50114762-50115017	NB4	blood:	n/a	chr13:50114916-50114925
3	MAFF	chr13:50114964-50115208	HepG2	liver:	n/a	chr13:50115078-50115096
4	MAFK	chr13:50114729-50115184	K562	blood:	n/a	chr13:50114917-50114926 chr13:50115080-50115095
5	JUND	chr13:50114762-50115154	K562	blood:	n/a	chr13:50114916-50114925 chr13:50114914-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
6	CCNT2	chr13:50114899-50115099	K562	blood:	n/a	n/a
7	MAFK	chr13:50114781-50115219	IMR90	lung:	n/a	chr13:50114917-50114926 chr13:50115080-50115095
8	MAFK	chr13:50114906-50115243	HepG2	liver:	n/a	chr13:50114917-50114926 chr13:50115080-50115095
9	MAFK	chr13:50114776-50115135	HepG2	liver:	n/a	chr13:50114917-50114926 chr13:50115080-50115095
10	IRF1	chr13:50114754-50115058	K562	blood:	n/a	chr13:50114870-50114882 chr13:50114806-50114820 chr13:50114986-50114997 chr13:50114871-50114881 chr13:50114807-50114818 chr13:50114871-50114885 chr13:50114867-50114884
11	FOS	chr13:50114721-50115121	HUVEC	blood vessel:	n/a	chr13:50114916-50114925 chr13:50114914-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
12	TAL1	chr13:50114863-50115165	K562	blood:	n/a	n/a
13	JUN	chr13:50114722-50115084	HUVEC	blood vessel:	n/a	chr13:50114916-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
14	JUND	chr13:50114819-50114997	H1-hESC	embryonic stem cell:	n/a	chr13:50114916-50114925 chr13:50114914-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
15	MAZ	chr13:50114771-50115069	K562	blood:	n/a	chr13:50114916-50114925
16	JUND	chr13:50114733-50115046	HepG2	liver:	n/a	chr13:50114916-50114925 chr13:50114914-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
17	BACH1	chr13:50114793-50115029	H1-hESC	embryonic stem cell:	n/a	chr13:50114913-50114927
18	POLR2A	chr13:50114667-50115007	GM12891	blood:	n/a	n/a
19	IRF1	chr13:50114755-50115069	K562	blood:	n/a	chr13:50114870-50114882 chr13:50114806-50114820 chr13:50114986-50114997 chr13:50114871-50114881 chr13:50114807-50114818 chr13:50114871-50114885 chr13:50114867-50114884
20	MAFF	chr13:50114758-50115198	K562	blood:	n/a	chr13:50115078-50115096
21	FOS	chr13:50114818-50115083	MCF10A-Er-Src	breast:	n/a	chr13:50114916-50114925 chr13:50114914-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
22	JUND	chr13:50114538-50115290	SK-N-SH	brain:	n/a	chr13:50114916-50114925 chr13:50114914-50114925 chr13:50114914-50114926 chr13:50114915-50114924 chr13:50114917-50114928
23	EP300	chr13:50114790-50115103	K562	blood:	n/a	chr13:50114916-50114925

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50101816..50103530-chr13:50113861..50116343,2	K562	blood:

Variant related genes	Relation type
RCBTB1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12428300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12429621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs17073175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55788913	0.84[AMR][1000 genomes]
rs73190749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190794	0.84[EUR][1000 genomes]
rs7324615	1.00[JPT][hapmap]
rs7335220	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7995006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316456	0.82[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs9591288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9596137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
3	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
4	chr13:50090000-50122800	Weak transcription	Ovary	ovary
5	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
6	chr13:50090200-50117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:50094600-50120000	Weak transcription	Spleen	Spleen
9	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
10	chr13:50095000-50120400	Weak transcription	A549	lung
11	chr13:50097800-50135000	Weak transcription	Colonic Mucosa	Colon
12	chr13:50101600-50142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:50104600-50143800	Weak transcription	Hela-S3	cervix
14	chr13:50106600-50133200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:50108600-50158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:50109200-50121600	Weak transcription	Brain Germinal Matrix	brain
17	chr13:50110400-50134400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:50110600-50124800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:50110800-50126800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:50111400-50127600	Weak transcription	Fetal Heart	heart
21	chr13:50111600-50116000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr13:50111600-50136600	Strong transcription	Dnd41	blood
23	chr13:50111800-50115400	Strong transcription	HSMM	muscle
24	chr13:50111800-50133200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:50112000-50118200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr13:50112000-50118400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:50112000-50135000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:50112200-50118200	Strong transcription	Fetal Muscle Leg	muscle
29	chr13:50112200-50121200	Strong transcription	Fetal Intestine Large	intestine
30	chr13:50112200-50134200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:50112200-50138400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:50112400-50116600	Strong transcription	Fetal Stomach	stomach
33	chr13:50112400-50118200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:50113200-50115800	Strong transcription	HSMMtube	muscle
35	chr13:50113200-50116000	Strong transcription	HepG2	liver
36	chr13:50113200-50118200	Strong transcription	NHEK	skin
37	chr13:50113200-50121400	Strong transcription	HMEC	breast
38	chr13:50113200-50127200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:50113400-50115000	Strong transcription	NHLF	lung
40	chr13:50113400-50115200	Genic enhancers	Fetal Thymus	thymus
41	chr13:50113400-50115400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr13:50113400-50115400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr13:50113400-50116200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr13:50113400-50116800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:50113400-50117800	Strong transcription	Osteobl	bone
46	chr13:50113600-50115000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr13:50113600-50115200	Strong transcription	Brain Angular Gyrus	brain
48	chr13:50113600-50115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:50113600-50115400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr13:50113600-50115400	Strong transcription	Rectal Mucosa Donor 31	rectum

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