Variant report

Variant	rs9596661
Chromosome Location	chr13:53191413-53191414
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:431)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr13:53191384-53191761	GM12878	blood:	n/a	n/a
2	EBF1	chr13:53191400-53191808	GM12878	blood:	n/a	n/a
3	ZNF384	chr13:53190770-53191775	K562	blood:	n/a	n/a
4	POLR2A	chr13:53191149-53191952	GM12892	blood:	n/a	n/a
5	EGR1	chr13:53191365-53191784	GM12878	blood:	n/a	n/a
6	CTCF	chr13:53191320-53191470	GM12864	blood:	n/a	n/a
7	POLR2A	chr13:53191211-53191953	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr13:53191303-53191892	GM10847	blood:	n/a	n/a
9	GABPA	chr13:53191337-53191982	H1-hESC	embryonic stem cell:	n/a	chr13:53191528-53191537
10	ELF1	chr13:53191339-53191921	GM12878	blood:	n/a	chr13:53191609-53191622
11	MAZ	chr13:53191218-53191871	IMR90	lung:	n/a	chr13:53191641-53191650
12	POLR2A	chr13:53191173-53191937	HCT-116	colon:	n/a	n/a
13	ZBTB33	chr13:53191378-53191722	A549	lung:	n/a	n/a
14	UBTF	chr13:53191235-53191991	K562	blood:	n/a	n/a
15	BCL3	chr13:53191278-53191797	A549	lung:	n/a	n/a
16	POLR2A	chr13:53191166-53191922	HL-60	blood:	n/a	n/a
17	POLR2A	chr13:53191132-53192399	GM12878	blood:	n/a	n/a
18	PML	chr13:53191213-53191884	MCF-7	breast:	n/a	chr13:53191592-53191600
19	MXI1	chr13:53191261-53191932	GM12878	blood:	n/a	n/a
20	MYC	chr13:53191059-53191862	NB4	blood:	n/a	chr13:53191641-53191650
21	IRF1	chr13:53191296-53191847	K562	blood:	n/a	n/a
22	GABPA	chr13:53191326-53191877	GM12878	blood:	n/a	chr13:53191528-53191537
23	SP1	chr13:53191309-53191782	H1-hESC	embryonic stem cell:	n/a	n/a
24	USF1	chr13:53191407-53191733	A549	lung:	n/a	n/a
25	ELF1	chr13:53191383-53191796	K562	blood:	n/a	chr13:53191609-53191622
26	SP1	chr13:53191274-53191955	HCT-116	colon:	n/a	n/a
27	POLR2A	chr13:53191142-53191999	GM12892	blood:	n/a	n/a
28	USF1	chr13:53191412-53191796	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr13:53191253-53191926	GM12878	blood:	n/a	n/a
30	ATF3	chr13:53191222-53191681	K562	blood:	n/a	n/a
31	FOXA2	chr13:53191293-53191799	A549	lung:	n/a	n/a
32	CHD2	chr13:53191322-53191733	K562	blood:	n/a	n/a
33	RAD21	chr13:53191342-53191704	GM12878	blood:	n/a	n/a
34	MAFK	chr13:53191360-53191777	HepG2	liver:	n/a	n/a
35	POLR2A	chr13:53191148-53191875	K562	blood:	n/a	n/a
36	GABPA	chr13:53191354-53191866	HepG2	liver:	n/a	chr13:53191528-53191537
37	ZNF143	chr13:53191281-53191839	K562	blood:	n/a	n/a
38	MYC	chr13:53191397-53191786	MCF10A-Er-Src	breast:	n/a	chr13:53191641-53191650
39	CHD2	chr13:53191338-53191879	GM12878	blood:	n/a	n/a
40	POLR2A	chr13:53191255-53191849	K562	blood:	n/a	n/a
41	RCOR1	chr13:53191364-53191900	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr13:53191275-53191877	PANC-1	pancreas:	n/a	n/a
43	TAF1	chr13:53191251-53191866	HepG2	liver:	n/a	n/a
44	MAX	chr13:53191339-53191882	ECC-1	luminal epithelium:	n/a	chr13:53191641-53191650
45	YY1	chr13:53191370-53191806	SK-N-SH_RA	brain:	n/a	n/a
46	CREB1	chr13:53191384-53191834	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr13:53191352-53191699	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr13:53191297-53191893	SK-N-SH	brain:	n/a	n/a
49	MAX	chr13:53191218-53191953	HCT-116	colon:	n/a	chr13:53191641-53191650
50	RPC155	chr13:53190842-53191711	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53191387-53191437	NT2-D1	testis:	n/a
2	chr13:53191387-53191437	NH-A	brain:	n/a
3	chr13:53191387-53191437	IMR90	lung:	fetal
4	chr13:53191387-53191437	GM12878	blood:	n/a
5	chr13:53191387-53191437	HepG2	liver:	n/a
6	chr13:53191387-53191437	RPTEC	kidney:	n/a
7	chr13:53191387-53191437	NHDF-neo	bronchial:	n/a
8	chr13:53191387-53191437	Jurkat	blood:	n/a
9	chr13:53191387-53191437	SK-N-SH_RA	brain:	n/a
10	chr13:53191387-53191437	Hela-S3	cervix:	n/a
11	chr13:53191387-53191437	AoSMC	blood vessel:	n/a
12	chr13:53191387-53191437	BE2_C	brain:	n/a
13	chr13:53191387-53191437	AG04450	lung:	fetal
14	chr13:53191387-53191437	Caco-2	colon:	n/a
15	chr13:53191387-53191437	HAEpiC	amniotic membrane:	n/a
16	chr13:53191387-53191437	AG04449	skin:	fetal
17	chr13:53191387-53191437	HRE	kidney:	n/a
18	chr13:53191387-53191437	HMEC	breast:	n/a
19	chr13:53191387-53191437	HCM	heart:	n/a
20	chr13:53191387-53191437	PrEC	prostate:	n/a
21	chr13:53191387-53191437	HUVEC	blood vessel:	n/a
22	chr13:53191387-53191437	NHBE	bronchial:	n/a
23	chr13:53191387-53191437	ECC-1	luminal epithelium:	n/a
24	chr13:53191387-53191437	HIPEpiC	eye:	n/a
25	chr13:53191387-53191437	HCF	heart:	n/a
26	chr13:53191387-53191437	HL-60	blood:	n/a
27	chr13:53191387-53191437	ProgFib	skin:	n/a
28	chr13:53191387-53191437	H1-hESC	embryonic stem cell:	embryo
29	chr13:53191387-53191437	SK-N-MC	brain:	n/a
30	chr13:53191387-53191437	K562	blood:	n/a
31	chr13:53191387-53191437	SAEC	small airway:	n/a
32	chr13:53191387-53191437	MCF10A-Er-Src	breast:	n/a
33	chr13:53191387-53191437	BJ	skin:	n/a
34	chr13:53191387-53191437	T-47D	breast:	n/a
35	chr13:53191387-53191437	AG09309	skin:	n/a
36	chr13:53191387-53191437	AG09319	gingival:	n/a
37	chr13:53191387-53191437	GM12891	blood:	n/a
38	chr13:53191387-53191437	HCT-116	colon:	n/a
39	chr13:53191387-53191437	LNCaP	prostate:	n/a
40	chr13:53191387-53191437	HEEpiC	esophagus:	n/a
41	chr13:53191387-53191437	AG10803	skin:	n/a
42	chr13:53191387-53191437	A549	lung:	n/a
43	chr13:53191387-53191437	GM12892	blood:	n/a
44	chr13:53191387-53191437	PANC-1	pancreas:	n/a
45	chr13:53191387-53191437	Hepatocyte	liver:	n/a
46	chr13:53191387-53191437	HRCEpiC	kidney:	n/a
47	chr13:53191387-53191437	GM19239	blood:	n/a
48	chr13:53191387-53191437	MCF-7	breast:	n/a
49	chr13:53191387-53191437	SKMC	muscle:	n/a
50	chr13:53191387-53191437	NB4	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53190930..53191973-chr13:53226605..53227465,3	MCF-7	breast:
2	chr13:53028109..53029845-chr13:53190052..53193351,3	MCF-7	breast:
3	chr13:52768173..52768983-chr13:53191222..53192131,3	NB4	blood:
4	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:

No data

Variant related genes	Relation type
MRPS31P4	TF binding region
HNRNPA1L2	TF binding region
MRPS31P4	CpG island
HNRNPA1L2	CpG island
ENSG00000136108	Chromatin interaction
ENSG00000243406	Chromatin interaction
ENSG00000165416	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs74087351	1.00[AMR][1000 genomes]
rs9591456	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9591458	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv900087	chr13:53119704-53208030	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv976119	chr13:53176029-53218496	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53190600-53191600	Active TSS	HepG2	liver
2	chr13:53190600-53192000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:53190600-53192200	Active TSS	Duodenum Mucosa	Duodenum
4	chr13:53190600-53192200	Active TSS	Hela-S3	cervix
5	chr13:53190600-53192400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:53190600-53192400	Active TSS	Rectal Smooth Muscle	rectum
7	chr13:53190600-53192600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:53190600-53192600	Active TSS	NHDF-Ad	bronchial
9	chr13:53190800-53191600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:53190800-53191600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr13:53190800-53191600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr13:53190800-53191800	Active TSS	Primary hematopoietic stem cells	blood
13	chr13:53190800-53192000	Active TSS	Primary T cells from cord blood	blood
14	chr13:53190800-53192000	Active TSS	Stomach Smooth Muscle	stomach
15	chr13:53190800-53192200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:53190800-53192200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:53190800-53192200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:53190800-53192200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:53190800-53192200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:53190800-53192200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:53190800-53192200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr13:53190800-53192200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr13:53190800-53192200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr13:53190800-53192200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr13:53190800-53192200	Active TSS	Brain Angular Gyrus	brain
26	chr13:53190800-53192200	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr13:53190800-53192200	Active TSS	NHEK	skin
28	chr13:53190800-53192400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:53190800-53192400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr13:53190800-53192400	Active TSS	Left Ventricle	heart
31	chr13:53190800-53192400	Active TSS	Right Atrium	heart
32	chr13:53190800-53192400	Active TSS	Thymus	Thymus
33	chr13:53190800-53192600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr13:53190800-53192600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr13:53190800-53192600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:53190800-53192600	Active TSS	Brain Anterior Caudate	brain
37	chr13:53190800-53192600	Active TSS	Brain Germinal Matrix	brain
38	chr13:53190800-53192600	Active TSS	Brain Hippocampus Middle	brain
39	chr13:53190800-53192600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr13:53190800-53192600	Active TSS	Fetal Lung	lung
41	chr13:53190800-53192600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr13:53190800-53192600	Active TSS	A549	lung
43	chr13:53190800-53192600	Active TSS	HMEC	breast
44	chr13:53190800-53192600	Active TSS	K562	blood
45	chr13:53190800-53192800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:53191000-53191800	Active TSS	HUVEC	blood vessel
47	chr13:53191000-53192000	Active TSS	Primary B cells from cord blood	blood
48	chr13:53191000-53192000	Active TSS	Primary B cells from peripheral blood	blood
49	chr13:53191000-53192000	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr13:53191000-53192200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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