Variant report

Variant	rs331592
Chromosome Location	chr13:111162086-111162087
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	USF2	chr13:111162006-111162206	Hela-S3	cervix:	n/a	n/a
2	E2F6	chr13:111161974-111163152	K562	blood:	n/a	chr13:111162613-111162624
3	STAT5A	chr13:111161782-111162262	K562	blood:	n/a	chr13:111162211-111162222
4	CCNT2	chr13:111161872-111162172	K562	blood:	n/a	n/a
5	GATA2	chr13:111161750-111162299	K562	blood:	n/a	chr13:111162054-111162070
6	ELF1	chr13:111161735-111162144	K562	blood:	n/a	chr13:111161899-111161912
7	TCF7L2	chr13:111161925-111162510	Hela-S3	cervix:	n/a	chr13:111162360-111162376 chr13:111162361-111162375 chr13:111162360-111162376
8	ZNF384	chr13:111161769-111162127	K562	blood:	n/a	n/a
9	CBX3	chr13:111161794-111162310	K562	blood:	n/a	n/a
10	PML	chr13:111161795-111162235	K562	blood:	n/a	n/a
11	POLR2A	chr13:111161823-111162216	K562	blood:	n/a	n/a
12	MAX	chr13:111161924-111163265	NB4	blood:	n/a	chr13:111162607-111162616 chr13:111162607-111162616 chr13:111162606-111162617 chr13:111162607-111162616
13	YY1	chr13:111161963-111162245	K562	blood:	n/a	n/a
14	MAX	chr13:111161943-111162257	K562	blood:	n/a	n/a
15	POLR2A	chr13:111161896-111162380	K562	blood:	n/a	n/a
16	POLR2A	chr13:111161803-111162115	HUVEC	blood vessel:	n/a	n/a
17	ZNF143	chr13:111161914-111163050	K562	blood:	n/a	n/a
18	JUND	chr13:111161862-111162209	K562	blood:	n/a	n/a
19	NR2F2	chr13:111161672-111162274	K562	blood:	n/a	n/a
20	CEBPD	chr13:111161768-111162301	K562	blood:	n/a	n/a
21	POLR2A	chr13:111161821-111163171	K562	blood:	n/a	n/a
22	NR2F2	chr13:111161725-111162216	K562	blood:	n/a	n/a
23	TEAD4	chr13:111161737-111162249	K562	blood:	n/a	n/a
24	MYC	chr13:111161891-111163099	K562	blood:	n/a	chr13:111162607-111162616 chr13:111162607-111162616 chr13:111162606-111162617 chr13:111162607-111162616
25	MAX	chr13:111161985-111162151	Hela-S3	cervix:	n/a	n/a
26	MAX	chr13:111161757-111162274	K562	blood:	n/a	n/a
27	BHLHE40	chr13:111161881-111163113	K562	blood:	n/a	n/a
28	RCOR1	chr13:111161720-111162272	K562	blood:	n/a	n/a
29	ARID3A	chr13:111161798-111162280	K562	blood:	n/a	n/a
30	GABPA	chr13:111161860-111162158	K562	blood:	n/a	n/a
31	GATA2	chr13:111161860-111162242	K562	blood:	n/a	chr13:111162054-111162070
32	ZMIZ1	chr13:111161893-111162320	K562	blood:	n/a	n/a
33	CEBPD	chr13:111161813-111162279	K562	blood:	n/a	n/a
34	TBP	chr13:111161898-111162333	K562	blood:	n/a	n/a
35	TRIM28	chr13:111161790-111162295	K562	blood:	n/a	n/a
36	TEAD4	chr13:111161753-111162286	K562	blood:	n/a	n/a
37	CEBPB	chr13:111161898-111162206	K562	blood:	n/a	n/a
38	MYC	chr13:111161900-111163193	NB4	blood:	n/a	chr13:111162607-111162616 chr13:111162607-111162616 chr13:111162606-111162617 chr13:111162607-111162616
39	EP300	chr13:111161891-111162128	Hela-S3	cervix:	n/a	n/a
40	MYC	chr13:111161894-111163248	K562	blood:	n/a	chr13:111162607-111162616 chr13:111162607-111162616 chr13:111162606-111162617 chr13:111162607-111162616
41	ZNF143	chr13:111162011-111162162	Hela-S3	cervix:	n/a	n/a
42	PML	chr13:111161799-111162213	K562	blood:	n/a	n/a
43	MYC	chr13:111161793-111162974	K562	blood:	n/a	chr13:111162607-111162616 chr13:111162607-111162616 chr13:111162606-111162617 chr13:111162607-111162616
44	RCOR1	chr13:111161802-111163057	K562	blood:	n/a	n/a
45	MXI1	chr13:111161812-111162826	IMR90	lung:	n/a	chr13:111162606-111162615
46	TAL1	chr13:111161757-111163006	K562	blood:	n/a	n/a
47	TBL1XR1	chr13:111161861-111162348	K562	blood:	n/a	n/a
48	MAZ	chr13:111161930-111163061	K562	blood:	n/a	chr13:111162607-111162616 chr13:111162607-111162616 chr13:111162606-111162617 chr13:111162607-111162616
49	CBX3	chr13:111161867-111162192	K562	blood:	n/a	n/a
50	ATF1	chr13:111161881-111162845	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111158315..111162369-chr13:111211913..111215301,3	MCF-7	breast:
2	chr13:111160586..111163300-chr13:111242800..111244422,2	MCF-7	breast:
3	chr13:111161146..111163590-chr13:111168306..111171101,3	K562	blood:
4	chr13:111161352..111163541-chr13:111207330..111209869,3	MCF-7	breast:
5	chr13:111158284..111162693-chr13:111363847..111368622,9	K562	blood:
6	chr13:111107610..111109499-chr13:111162077..111163995,2	K562	blood:
7	chr13:111128717..111130651-chr13:111161918..111164704,2	K562	blood:

Variant related genes	Relation type
COL4A2-AS1	TF binding region
ENSG00000134905	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000139832	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10509	0.86[EUR][1000 genomes]
rs1106649	1.00[LWK][hapmap]
rs12584142	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs391859	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs913400	0.81[EUR][1000 genomes]
rs9521815	0.85[EUR][1000 genomes]
rs9521835	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv901009	chr13:111134780-111176393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv563121	chr13:111155363-111168488	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a
10	nsv984479	chr13:111157297-111176429	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
4	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr13:111149800-111162400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr13:111150000-111165000	Weak transcription	Brain Angular Gyrus	brain
12	chr13:111150800-111167200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:111152600-111168000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:111152800-111165800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:111153000-111168000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:111153400-111172800	Weak transcription	Brain Substantia Nigra	brain
17	chr13:111155200-111175600	Weak transcription	Fetal Thymus	thymus
18	chr13:111157800-111163000	Genic enhancers	Fetal Intestine Small	intestine
19	chr13:111158800-111163800	Weak transcription	Small Intestine	intestine
20	chr13:111159000-111162200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:111159000-111162400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:111159600-111166600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:111159600-111166800	Strong transcription	HUVEC	blood vessel
24	chr13:111159600-111167600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:111159600-111172200	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:111159600-111176800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:111159800-111162200	Enhancers	K562	blood
28	chr13:111159800-111162400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:111159800-111167800	Strong transcription	NH-A	brain
30	chr13:111159800-111167800	Strong transcription	Osteobl	bone
31	chr13:111159800-111168200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:111160000-111162600	Enhancers	Hela-S3	cervix
33	chr13:111160000-111163200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr13:111160000-111164000	Weak transcription	A549	lung
35	chr13:111160000-111165600	Strong transcription	NHEK	skin
36	chr13:111160000-111167000	Strong transcription	HSMM	muscle
37	chr13:111160000-111167800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr13:111160000-111172800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:111160200-111163200	Strong transcription	HSMMtube	muscle
40	chr13:111160200-111165600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:111160200-111167600	Strong transcription	Aorta	Aorta
42	chr13:111160400-111162400	Strong transcription	Placenta	Placenta
43	chr13:111160600-111162200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:111160600-111162200	Strong transcription	Fetal Lung	lung
45	chr13:111160600-111162400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:111160600-111162400	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr13:111160600-111162600	Strong transcription	HMEC	breast
48	chr13:111160600-111163200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr13:111160600-111165600	Strong transcription	Colon Smooth Muscle	Colon
50	chr13:111160800-111162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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