Variant report

Variant	rs9521843
Chromosome Location	chr13:111215850-111215851
allele	A/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	MAFK	chr13:111215135-111215914	HepG2	liver:	n/a	chr13:111215438-111215453 chr13:111215442-111215453
2	TRIM28	chr13:111215666-111215864	K562	blood:	n/a	n/a
3	MAFK	chr13:111215268-111215930	IMR90	lung:	n/a	chr13:111215438-111215453 chr13:111215442-111215453
4	TCF7L2	chr13:111215598-111216148	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:111215557-111215875	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:111215448-111215892	HepG2	liver:	n/a	chr13:111215621-111215632
7	MAFF	chr13:111215166-111215919	HepG2	liver:	n/a	chr13:111215437-111215455
8	RCOR1	chr13:111215692-111215892	K562	blood:	n/a	n/a
9	MAFK	chr13:111215296-111215946	K562	blood:	n/a	chr13:111215438-111215453 chr13:111215442-111215453
10	CEBPB	chr13:111215452-111215859	HepG2	liver:	n/a	chr13:111215621-111215632
11	HDAC2	chr13:111215466-111215890	HepG2	liver:	n/a	n/a
12	MAFF	chr13:111215285-111215913	K562	blood:	n/a	chr13:111215437-111215455
13	EP300	chr13:111215455-111215914	HepG2	liver:	n/a	n/a
14	BHLHE40	chr13:111215709-111215854	K562	blood:	n/a	n/a
15	MAZ	chr13:111215754-111215860	K562	blood:	n/a	n/a
16	CEBPB	chr13:111215430-111215950	K562	blood:	n/a	chr13:111215621-111215632
17	EP300	chr13:111215446-111215900	HepG2	liver:	n/a	n/a
18	MAFK	chr13:111215149-111215940	HepG2	liver:	n/a	chr13:111215438-111215453 chr13:111215442-111215453
19	EP300	chr13:111215685-111215904	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111176604..111179029-chr13:111215041..111217071,2	MCF-7	breast:
2	chr13:111215235..111216762-chr13:111365577..111367268,2	MCF-7	breast:
3	chr13:111215515..111217853-chr13:111220246..111222772,2	K562	blood:
4	chr13:111214986..111217647-chr13:111218744..111220287,2	MCF-7	breast:

Variant related genes	Relation type
RAB20	TF binding region
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12873423	0.82[EUR][1000 genomes]
rs12873520	0.82[EUR][1000 genomes]
rs12873717	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12873913	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67721460	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766974	0.91[ASN][1000 genomes]
rs9521840	0.81[EUR][1000 genomes]
rs9521844	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
6	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS 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	25 gene(s)	inside rSNPs	diseases
9	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111212600-111216200	Active TSS	Colonic Mucosa	Colon
2	chr13:111214600-111216000	Enhancers	Lung	lung
3	chr13:111214800-111216000	Flanking Active TSS	Fetal Lung	lung
4	chr13:111214800-111216000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr13:111214800-111216000	Flanking Active TSS	Hela-S3	cervix
6	chr13:111214800-111216000	Flanking Active TSS	K562	blood
7	chr13:111214800-111216200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr13:111214800-111218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:111214800-111226400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:111215000-111216000	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr13:111215000-111216200	Flanking Active TSS	Liver	Liver
12	chr13:111215200-111216000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr13:111215200-111216200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:111215200-111220000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:111215400-111216000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:111215400-111216000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:111215400-111216000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:111215400-111216000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:111215400-111216000	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr13:111215400-111216000	Active TSS	Gastric	stomach
21	chr13:111215400-111216000	Enhancers	Right Ventricle	heart
22	chr13:111215400-111216000	Enhancers	Spleen	Spleen
23	chr13:111215400-111216200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr13:111215400-111216200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:111215400-111216200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:111215400-111216200	Enhancers	Fetal Heart	heart
27	chr13:111215400-111216200	Enhancers	Pancreas	Pancrea
28	chr13:111215400-111216400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:111215400-111216600	Enhancers	Fetal Intestine Small	intestine
30	chr13:111215400-111217000	Weak transcription	Fetal Kidney	kidney
31	chr13:111215400-111217400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:111215400-111218200	Weak transcription	Psoas Muscle	Psoas
33	chr13:111215400-111221000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:111215600-111216000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr13:111215600-111216000	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr13:111215600-111216000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:111215600-111216000	Enhancers	Left Ventricle	heart
38	chr13:111215600-111216000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr13:111215600-111216200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr13:111215600-111216200	Enhancers	Adipose Nuclei	Adipose
41	chr13:111215600-111216200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr13:111215600-111216200	Flanking Active TSS	HepG2	liver
43	chr13:111215600-111216800	Weak transcription	Fetal Stomach	stomach
44	chr13:111215600-111217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:111215600-111217000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:111215600-111217200	Enhancers	Stomach Mucosa	stomach
47	chr13:111215600-111222600	Weak transcription	Ovary	ovary
48	chr13:111215800-111216000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:111215800-111216000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr13:111215800-111216000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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