Variant report

Variant	rs833826
Chromosome Location	chr12:49351572-49351573
allele	A/C
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	REST	chr12:49350826-49351622	A549	lung:	n/a	chr12:49351277-49351290
2	YY1	chr12:49350888-49351614	HepG2	liver:	n/a	chr12:49350917-49350928 chr12:49351369-49351383 chr12:49351356-49351376
3	ZBTB33	chr12:49350084-49351698	HCT-116	colon:	n/a	chr12:49351310-49351325 chr12:49351348-49351357 chr12:49350999-49351009 chr12:49351346-49351356 chr12:49351343-49351358 chr12:49351349-49351359
4	POLR2A	chr12:49350993-49351655	U87	brain:	n/a	n/a
5	MAX	chr12:49351039-49351643	Hela-S3	cervix:	n/a	n/a
6	ZBTB33	chr12:49350997-49351617	HepG2	liver:	n/a	chr12:49351310-49351325 chr12:49351348-49351357 chr12:49350999-49351009 chr12:49351346-49351356 chr12:49351343-49351358 chr12:49351349-49351359
7	MAX	chr12:49349758-49351771	ECC-1	luminal epithelium:	n/a	chr12:49350980-49350989
8	CCNT2	chr12:49350452-49351597	K562	blood:	n/a	chr12:49351278-49351287 chr12:49350593-49350602 chr12:49350880-49350889 chr12:49350886-49350895 chr12:49350626-49350635
9	RCOR1	chr12:49350019-49351660	K562	blood:	n/a	n/a
10	MAZ	chr12:49350996-49351648	HepG2	liver:	n/a	n/a
11	TAF1	chr12:49350155-49351699	ECC-1	luminal epithelium:	n/a	n/a
12	TAF1	chr12:49350740-49351711	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr12:49351126-49351782	Hela-S3	cervix:	n/a	n/a
14	ELF1	chr12:49350935-49351620	GM12878	blood:	n/a	chr12:49350992-49351004
15	ELF1	chr12:49349738-49351783	MCF-7	breast:	n/a	chr12:49350992-49351004
16	BCL3	chr12:49350688-49351622	A549	lung:	n/a	chr12:49351563-49351576 chr12:49351278-49351291 chr12:49351369-49351382
17	POLR2A	chr12:49350189-49351743	U87	brain:	n/a	n/a
18	MXI1	chr12:49351057-49351713	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF12	chr12:49350059-49351854	ECC-1	luminal epithelium:	n/a	chr12:49351515-49351523
20	POLR2A	chr12:49351009-49351583	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB33	chr12:49350974-49351635	GM12878	blood:	n/a	chr12:49351310-49351325 chr12:49351348-49351357 chr12:49350999-49351009 chr12:49351346-49351356 chr12:49351343-49351358 chr12:49351349-49351359
22	POLR2A	chr12:49350175-49351738	HUVEC	blood vessel:	n/a	n/a
23	ZBTB33	chr12:49350992-49351572	GM12878	blood:	n/a	chr12:49351310-49351325 chr12:49351348-49351357 chr12:49350999-49351009 chr12:49351346-49351356 chr12:49351343-49351358 chr12:49351349-49351359
24	POLR2A	chr12:49350907-49351603	GM18505	blood:	n/a	n/a
25	POLR2A	chr12:49350935-49351600	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr12:49350041-49351803	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr12:49350144-49351648	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:49349992-49351649	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr12:49351044-49352062	H1-hESC	embryonic stem cell:	n/a	chr12:49351348-49351357
30	GATA3	chr12:49350998-49351642	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr12:49350418-49351662	Raji	blood:	n/a	n/a
32	TBL1XR1	chr12:49350920-49351616	GM12878	blood:	n/a	n/a
33	BRCA1	chr12:49350176-49351896	Hela-S3	cervix:	n/a	chr12:49351348-49351357
34	ZBTB7A	chr12:49350197-49351845	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr12:49350863-49351601	GM18951	blood:	n/a	n/a
36	EGR1	chr12:49351135-49351584	GM12878	blood:	n/a	n/a
37	EGR1	chr12:49350022-49351754	ECC-1	luminal epithelium:	n/a	chr12:49350874-49350887 chr12:49350389-49350402 chr12:49350752-49350765 chr12:49350389-49350402 chr12:49350388-49350402 chr12:49350390-49350399 chr12:49350386-49350400 chr12:49350626-49350641 chr12:49350881-49350894 chr12:49350390-49350400 chr12:49350751-49350766 chr12:49350911-49350924 chr12:49350389-49350402 chr12:49350384-49350406 chr12:49350911-49350924 chr12:49350752-49350765 chr12:49350389-49350402 chr12:49350911-49350924
38	POLR2A	chr12:49349890-49351661	ECC-1	luminal epithelium:	n/a	n/a
39	EP300	chr12:49349844-49351738	ECC-1	luminal epithelium:	n/a	n/a
40	CHD2	chr12:49350609-49351672	HepG2	liver:	n/a	chr12:49351348-49351357
41	POLR2A	chr12:49350975-49351596	GM12891	blood:	n/a	n/a
42	POLR2A	chr12:49350895-49351613	PFSK-1	brain:	n/a	n/a
43	ZBTB7A	chr12:49349918-49351817	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr12:49351007-49351665	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr12:49350966-49351625	A549	lung:	n/a	n/a
46	SP1	chr12:49350042-49351655	A549	lung:	n/a	chr12:49350880-49350889 chr12:49350999-49351008 chr12:49350677-49350691 chr12:49350683-49350697 chr12:49350626-49350635 chr12:49351277-49351287 chr12:49350612-49350625 chr12:49350879-49350893 chr12:49350622-49350636 chr12:49350416-49350427 chr12:49351278-49351287 chr12:49350879-49350889 chr12:49350448-49350459 chr12:49350593-49350607 chr12:49350997-49351009 chr12:49350625-49350637 chr12:49351277-49351291
47	ZNF263	chr12:49350053-49351933	HEK293-T-REx	kidney:	n/a	chr12:49350407-49350416 chr12:49350450-49350471
48	EP300	chr12:49351010-49351675	A549	lung:	n/a	n/a
49	FOXM1	chr12:49350839-49351712	GM12878	blood:	n/a	n/a
50	MAZ	chr12:49350169-49351633	K562	blood:	n/a	chr12:49350980-49350989

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49351537-49351587	H1-hESC	embryonic stem cell:	embryo
2	chr12:49351537-49351587	SKMC	muscle:	n/a
3	chr12:49351537-49351587	U87	brain:	n/a
4	chr12:49351537-49351587	HNPCEpiC	eye:	n/a
5	chr12:49351537-49351587	SK-N-SH	brain:	n/a
6	chr12:49351537-49351587	AG04450	lung:	fetal
7	chr12:49351537-49351587	AG10803	skin:	n/a
8	chr12:49351537-49351587	A549	lung:	n/a
9	chr12:49351537-49351587	PANC-1	pancreas:	n/a
10	chr12:49351537-49351587	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:49351537-49351587	HepG2	liver:	n/a
12	chr12:49351537-49351587	CMK	blood:	n/a
13	chr12:49351537-49351587	HL-60	blood:	n/a
14	chr12:49351537-49351587	AG09319	gingival:	n/a
15	chr12:49351537-49351587	IMR90	lung:	fetal
16	chr12:49351537-49351587	PrEC	prostate:	n/a
17	chr12:49351537-49351587	NHDF-neo	bronchial:	n/a
18	chr12:49351537-49351587	GM12891	blood:	n/a
19	chr12:49351537-49351587	Jurkat	blood:	n/a
20	chr12:49351537-49351587	GM06990	blood:	n/a
21	chr12:49351537-49351587	GM12892	blood:	n/a
22	chr12:49351537-49351587	LNCaP	prostate:	n/a
23	chr12:49351537-49351587	GM19239	blood:	n/a
24	chr12:49351537-49351587	Hela-S3	cervix:	n/a
25	chr12:49351537-49351587	NT2-D1	testis:	n/a
26	chr12:49351537-49351587	HRPEpiC	eye:	n/a
27	chr12:49351537-49351587	HMEC	breast:	n/a
28	chr12:49351537-49351587	HCPEpiC	choroid plexus:	n/a
29	chr12:49351537-49351587	GM12878	blood:	n/a
30	chr12:49351537-49351587	ProgFib	skin:	n/a
31	chr12:49351537-49351587	AG09309	skin:	n/a
32	chr12:49351537-49351587	HAEpiC	amniotic membrane:	n/a
33	chr12:49351537-49351587	ECC-1	luminal epithelium:	n/a
34	chr12:49351537-49351587	HRCEpiC	kidney:	n/a
35	chr12:49351537-49351587	K562	blood:	n/a
36	chr12:49351537-49351587	HIPEpiC	eye:	n/a
37	chr12:49351537-49351587	HUVEC	blood vessel:	n/a
38	chr12:49351537-49351587	HRE	kidney:	n/a
39	chr12:49351537-49351587	Hepatocyte	liver:	n/a
40	chr12:49351537-49351587	HCF	heart:	n/a
41	chr12:49351537-49351587	HEK293	kidney:	embryo
42	chr12:49351537-49351587	AoSMC	blood vessel:	n/a
43	chr12:49351537-49351587	PFSK-1	brain:	n/a
44	chr12:49351537-49351587	BE2_C	brain:	n/a
45	chr12:49351537-49351587	MCF10A-Er-Src	breast:	n/a
46	chr12:49351537-49351587	HCT-116	colon:	n/a
47	chr12:49351537-49351587	NH-A	brain:	n/a
48	chr12:49351537-49351587	NB4	blood:	n/a
49	chr12:49351537-49351587	BJ	skin:	n/a
50	chr12:49351537-49351587	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49349835..49352133-chr12:49390670..49393580,2	K562	blood:
2	chr12:49326822..49334011-chr12:49345841..49353556,12	MCF-7	breast:
3	chr12:49349202..49351999-chr12:49410599..49414055,4	MCF-7	breast:
4	chr12:49349007..49352698-chr12:49523718..49526243,3	K562	blood:
5	chr12:49350460..49352797-chr12:49389222..49392992,4	MCF-7	breast:
6	chr12:49317412..49320697-chr12:49349793..49352537,4	MCF-7	breast:
7	chr12:49244090..49248564-chr12:49349147..49352476,5	MCF-7	breast:
8	chr12:49348867..49353149-chr12:49362475..49369316,15	MCF-7	breast:
9	chr12:49258205..49260442-chr12:49349875..49351715,2	MCF-7	breast:
10	chr12:49244315..49247663-chr12:49350223..49353820,7	MCF-7	breast:
11	chr12:49349743..49353633-chr12:49353636..49360057,10	MCF-7	breast:
12	chr12:49348804..49352502-chr12:49411258..49414497,4	MCF-7	breast:
13	chr12:49347357..49351835-chr12:49360389..49366684,9	MCF-7	breast:
14	chr12:49351134..49353553-chr12:49353996..49358640,5	MCF-7	breast:
15	chr12:49349770..49352703-chr12:49396550..49398736,3	K562	blood:
16	chr12:49351084..49352752-chr12:49363357..49365742,2	K562	blood:
17	chr12:49349495..49352296-chr12:49353463..49356229,4	K562	blood:

Variant related genes	Relation type
ARF3	TF binding region
ENSG00000272822	TF binding region
ARF3	CpG island
ENSG00000272822	CpG island
ENSG00000181418	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000238395	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000169884	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000255863	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000134285	Chromatin interaction
ENSG00000172602	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7981004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs833824	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs833830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs833833	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs863855	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49348000-49352200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:49349200-49352000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:49349600-49351800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:49349600-49351800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:49349600-49352000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:49349800-49351600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:49349800-49351600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:49349800-49351600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:49349800-49352000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:49350000-49351600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:49350000-49351600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:49350000-49351600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:49350000-49351600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:49350000-49351600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49350000-49351600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:49350000-49351600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:49350000-49351600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:49350000-49351600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:49350000-49351600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:49350000-49351600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:49350000-49351600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:49350000-49351600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:49350000-49351600	Active TSS	Fetal Intestine Large	intestine
24	chr12:49350000-49351600	Active TSS	Fetal Intestine Small	intestine
25	chr12:49350000-49351600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:49350000-49351600	Active TSS	Psoas Muscle	Psoas
27	chr12:49350000-49351600	Active TSS	GM12878-XiMat	blood
28	chr12:49350000-49351600	Active TSS	HSMM	muscle
29	chr12:49350000-49351600	Active TSS	HSMMtube	muscle
30	chr12:49350000-49351600	Active TSS	NH-A	brain
31	chr12:49350000-49351600	Active TSS	NHLF	lung
32	chr12:49350000-49351800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:49350000-49351800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:49350000-49351800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:49350000-49351800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:49350000-49351800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:49350000-49351800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:49350000-49351800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr12:49350000-49351800	Active TSS	Aorta	Aorta
40	chr12:49350000-49351800	Active TSS	NHDF-Ad	bronchial
41	chr12:49350000-49352000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:49350000-49352000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:49350000-49352200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:49350000-49352200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:49350200-49351600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:49350200-49351600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:49350200-49351600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr12:49350200-49351600	Active TSS	Brain Cingulate Gyrus	brain
49	chr12:49350200-49351600	Active TSS	Brain Hippocampus Middle	brain
50	chr12:49350200-49351600	Active TSS	Brain Inferior Temporal Lobe	brain

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