Variant report

Variant	rs67033206
Chromosome Location	chr13:50160418-50160419
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	MTA3	chr13:50159781-50160504	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr13:50159436-50160615	MCF-7	breast:	n/a	n/a
3	POLR2A	chr13:50159419-50160521	Raji	blood:	n/a	n/a
4	ELF1	chr13:50159963-50160434	HepG2	liver:	n/a	chr13:50160202-50160215
5	POLR2A	chr13:50159375-50160438	GM18951	blood:	n/a	n/a
6	HCFC1	chr13:50159355-50160448	Hela-S3	cervix:	n/a	n/a
7	MAX	chr13:50159211-50160477	H1-hESC	embryonic stem cell:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
8	POLR2A	chr13:50159204-50160517	HepG2	liver:	n/a	n/a
9	POLR2A	chr13:50159401-50160422	HepG2	liver:	n/a	n/a
10	MAX	chr13:50159305-50160466	A549	lung:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
11	REST	chr13:50158714-50160525	H1-neurons	neurons:	n/a	chr13:50160498-50160516
12	POLR2A	chr13:50159328-50160448	MCF-7	breast:	n/a	n/a
13	HA-E2F1	chr13:50159169-50160508	MCF-7	breast:	n/a	chr13:50159859-50159868
14	ELF1	chr13:50159870-50160448	MCF-7	breast:	n/a	chr13:50160202-50160215
15	POLR2A	chr13:50159266-50160469	Hela-S3	cervix:	n/a	n/a
16	MAX	chr13:50159060-50160469	HepG2	liver:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
17	SIN3A	chr13:50158888-50160451	H1-hESC	embryonic stem cell:	n/a	chr13:50159737-50159746 chr13:50159425-50159434 chr13:50159582-50159595 chr13:50159716-50159725 chr13:50159718-50159727
18	POLR2A	chr13:50158791-50160591	MCF10A-Er-Src	breast:	n/a	n/a
19	TFAP2C	chr13:50159258-50160511	Hela-S3	cervix:	n/a	chr13:50160096-50160111
20	POLR2A	chr13:50159362-50160462	GM12892	blood:	n/a	n/a
21	POLR2A	chr13:50159376-50160469	HL-60	blood:	n/a	n/a
22	POLR2A	chr13:50159242-50160492	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr13:50158400-50160880	SK-N-SH	brain:	n/a	chr13:50159737-50159746 chr13:50159716-50159725
24	ELF1	chr13:50159284-50160467	GM12878	blood:	n/a	chr13:50159424-50159436 chr13:50160202-50160215 chr13:50159491-50159503
25	POLR2A	chr13:50159082-50160718	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr13:50159332-50160434	GM19099	blood:	n/a	n/a
27	USF1	chr13:50159181-50160428	H1-hESC	embryonic stem cell:	n/a	chr13:50159735-50159746 chr13:50159589-50159605 chr13:50159736-50159745 chr13:50159734-50159747 chr13:50159974-50159990 chr13:50159715-50159726 chr13:50159737-50159746 chr13:50159736-50159745 chr13:50159730-50159751
28	ELF1	chr13:50159943-50160567	MCF-7	breast:	n/a	chr13:50160202-50160215
29	POLR2A	chr13:50159333-50160499	MCF-7	breast:	n/a	n/a
30	POLR2A	chr13:50159389-50160536	HUVEC	blood vessel:	n/a	n/a
31	TAF1	chr13:50159347-50160488	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr13:50159282-50160423	ECC-1	luminal epithelium:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
33	HEY1	chr13:50159398-50160435	HepG2	liver:	n/a	chr13:50159597-50159612 chr13:50159701-50159716
34	POLR2A	chr13:50159278-50160452	GM12892	blood:	n/a	n/a
35	POLR2A	chr13:50159330-50160446	GM18505	blood:	n/a	n/a
36	MAZ	chr13:50159223-50160461	Hela-S3	cervix:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
37	MAX	chr13:50159264-50160536	H1-hESC	embryonic stem cell:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
38	POLR2A	chr13:50159293-50160565	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr13:50159471-50160455	MCF-7	breast:	n/a	n/a
40	POLR2A	chr13:50159438-50160443	HepG2	liver:	n/a	n/a
41	MAX	chr13:50159256-50160482	HCT-116	colon:	n/a	chr13:50159717-50159726 chr13:50159712-50159731 chr13:50159736-50159745 chr13:50159462-50159472 chr13:50159717-50159726 chr13:50159716-50159727 chr13:50159715-50159728
42	NFIC	chr13:50159711-50160424	ECC-1	luminal epithelium:	n/a	n/a
43	E2F6	chr13:50159047-50160524	H1-hESC	embryonic stem cell:	n/a	chr13:50159859-50159868
44	POLR2A	chr13:50159433-50160432	HepG2	liver:	n/a	n/a
45	TAF1	chr13:50159405-50160449	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr13:50158880-50160495	GM12891	blood:	n/a	n/a
47	POLR2A	chr13:50159329-50160474	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr13:50159267-50160456	GM19193	blood:	n/a	n/a
49	POLR2A	chr13:50159428-50160562	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50087217..50089138-chr13:50160277..50162233,2	MCF-7	breast:
2	chr13:50016992..50019784-chr13:50159235..50161344,2	K562	blood:
3	chr13:50068906..50071236-chr13:50159028..50161203,3	MCF-7	breast:
4	chr13:50016508..50019619-chr13:50158297..50162493,5	MCF-7	breast:
5	chr13:50018091..50020783-chr13:50160403..50162609,2	MCF-7	breast:
6	chr13:50091935..50095583-chr13:50159811..50161648,3	MCF-7	breast:

Variant related genes	Relation type
RCBTB1	TF binding region
ENSG00000102547	Chromatin interaction
ENSG00000136147	Chromatin interaction
ENSG00000215462	Chromatin interaction
ENSG00000136169	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12429055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17073175	0.87[ASN][1000 genomes]
rs55693373	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs67360567	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73190794	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7323959	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7335220	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7336147	0.83[EUR][1000 genomes]
rs9591288	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9596158	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9671042	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
9	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
11	nsv1046912	chr13:50122840-50189313	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1043902	chr13:50122840-50189999	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	esv2761789	chr13:50122852-50185910	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv455883	chr13:50124621-50185204	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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	8 gene(s)	inside rSNPs	diseases
15	nsv561617	chr13:50124621-50185204	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50158000-50160600	Active TSS	Right Atrium	heart
2	chr13:50158400-50160600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr13:50158400-50160600	Active TSS	Fetal Brain Female	brain
4	chr13:50158400-50160600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr13:50158600-50160600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:50158600-50160600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:50158600-50160600	Active TSS	Rectal Smooth Muscle	rectum
8	chr13:50158600-50160800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr13:50158800-50160600	Active TSS	Fetal Brain Male	brain
10	chr13:50158800-50160600	Active TSS	Placenta Amnion	Placenta Amnion
11	chr13:50159000-50160600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:50159000-50160600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:50159000-50160800	Active TSS	Stomach Mucosa	stomach
14	chr13:50159200-50160800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr13:50159600-50160600	Active TSS	Colonic Mucosa	Colon
16	chr13:50159800-50160600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr13:50159800-50160600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr13:50159800-50160600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:50159800-50160600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr13:50160000-50160600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr13:50160000-50160600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr13:50160000-50160600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr13:50160000-50160600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr13:50160000-50160600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:50160000-50160600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:50160000-50160600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr13:50160000-50160600	Flanking Active TSS	Liver	Liver
28	chr13:50160000-50160600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr13:50160000-50160600	Flanking Active TSS	Dnd41	blood
30	chr13:50160000-50160600	Flanking Active TSS	HMEC	breast
31	chr13:50160000-50160600	Flanking Active TSS	HUVEC	blood vessel
32	chr13:50160000-50160600	Flanking Active TSS	NHEK	skin
33	chr13:50160200-50160600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:50160200-50160600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:50160200-50160600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr13:50160200-50160600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:50160200-50160600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:50160200-50160600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr13:50160200-50160600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr13:50160200-50160600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:50160200-50160600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr13:50160200-50160600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr13:50160200-50160600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:50160200-50160600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr13:50160200-50160600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:50160200-50160600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:50160200-50160600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:50160200-50160600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:50160200-50160600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:50160200-50160600	Flanking Active TSS	Brain Angular Gyrus	brain

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