Variant report

Variant	rs11829843
Chromosome Location	chr12:57633210-57633211
allele	C/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	POLR2A	chr12:57632778-57633426	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr12:57632467-57633569	HCT-116	colon:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
3	SMC3	chr12:57632187-57634208	SK-N-SH	brain:	n/a	chr12:57632796-57632804 chr12:57633003-57633013 chr12:57633003-57633017 chr12:57634075-57634085 chr12:57632259-57632269
4	ZBTB33	chr12:57632783-57633263	HCT-116	colon:	n/a	n/a
5	POLR2A	chr12:57632841-57633282	A549	lung:	n/a	n/a
6	POLR2A	chr12:57632835-57633333	HCT-116	colon:	n/a	n/a
7	RUNX3	chr12:57632790-57633220	GM12878	blood:	n/a	n/a
8	BCLAF1	chr12:57632781-57633260	GM12878	blood:	n/a	n/a
9	CTCF	chr12:57632843-57633257	GM12891	blood:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
10	HDAC2	chr12:57632794-57633270	K562	blood:	n/a	n/a
11	TAF1	chr12:57632197-57633337	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:57632726-57635649	Raji	blood:	n/a	n/a
13	CREB1	chr12:57632768-57633296	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:57632728-57635007	H1-neurons	neurons:	n/a	n/a
15	CTCF	chr12:57632716-57633304	K562	blood:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
16	REST	chr12:57632710-57633243	A549	lung:	n/a	n/a
17	RFX5	chr12:57632891-57633210	HepG2	liver:	n/a	n/a
18	CTCF	chr12:57632686-57633344	ECC-1	luminal epithelium:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
19	POLR2A	chr12:57632779-57633327	HCT-116	colon:	n/a	n/a
20	YY1	chr12:57632783-57633258	K562	blood:	n/a	n/a
21	RAD21	chr12:57632829-57633229	GM12878	blood:	n/a	chr12:57633208-57633220 chr12:57633003-57633013 chr12:57632999-57633018 chr12:57633002-57633015 chr12:57633003-57633017
22	MAX	chr12:57632508-57633298	K562	blood:	n/a	n/a
23	CTCF	chr12:57632844-57633224	MCF-7	breast:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
24	CTCF	chr12:57632626-57633388	MCF-7	breast:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
25	RAD21	chr12:57632741-57633261	HepG2	liver:	n/a	chr12:57633208-57633220 chr12:57633003-57633013 chr12:57632999-57633018 chr12:57633002-57633015 chr12:57633003-57633017
26	RAD21	chr12:57632764-57633239	HepG2	liver:	n/a	chr12:57633208-57633220 chr12:57633003-57633013 chr12:57632999-57633018 chr12:57633002-57633015 chr12:57633003-57633017
27	RAD21	chr12:57632552-57633892	SK-N-SH	brain:	n/a	chr12:57633208-57633220 chr12:57633003-57633013 chr12:57632999-57633018 chr12:57633002-57633015 chr12:57633003-57633017
28	CTCF	chr12:57632867-57633210	GM10248	blood:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
29	FOSL2	chr12:57632766-57633231	A549	lung:	n/a	n/a
30	RAD21	chr12:57632672-57633411	ECC-1	luminal epithelium:	n/a	chr12:57633208-57633220 chr12:57633003-57633013 chr12:57632999-57633018 chr12:57633002-57633015 chr12:57633003-57633017
31	POLR2A	chr12:57632824-57634840	IMR90	lung:	n/a	n/a
32	NFYA	chr12:57632803-57633214	Hela-S3	cervix:	n/a	n/a
33	STAT5A	chr12:57632786-57633240	K562	blood:	n/a	n/a
34	CTCF	chr12:57632732-57633268	T-47D	breast:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
35	BCL3	chr12:57632618-57633750	A549	lung:	n/a	n/a
36	CTCF	chr12:57632449-57633370	K562	blood:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
37	CREB1	chr12:57632757-57633347	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr12:57632637-57633479	K562	blood:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
39	TRIM28	chr12:57632834-57633285	K562	blood:	n/a	chr12:57633277-57633285
40	CCNT2	chr12:57632845-57633218	K562	blood:	n/a	n/a
41	POLR2A	chr12:57632842-57633302	PANC-1	pancreas:	n/a	n/a
42	BACH1	chr12:57632887-57633257	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:57632859-57633216	GM13977	blood:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
44	SIN3AK20	chr12:57632871-57633270	PANC-1	pancreas:	n/a	n/a
45	TEAD4	chr12:57632837-57633230	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:57632869-57633220	Kidney_OC	kidney:	n/a	chr12:57633007-57633016 chr12:57633003-57633016 chr12:57633002-57633018 chr12:57633004-57633014 chr12:57633001-57633019 chr12:57632996-57633017
47	RAD21	chr12:57632621-57633349	A549	lung:	n/a	chr12:57633208-57633220 chr12:57633003-57633013 chr12:57632999-57633018 chr12:57633002-57633015 chr12:57633003-57633017
48	POLR2A	chr12:57632746-57633561	K562	blood:	n/a	n/a
49	SP4	chr12:57632728-57633256	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF3	chr12:57632729-57633257	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57633209-57633259	HMEC	breast:	n/a
2	chr12:57633209-57633259	GM12891	blood:	n/a
3	chr12:57633209-57633259	HRPEpiC	eye:	n/a
4	chr12:57633209-57633259	Hela-S3	cervix:	n/a
5	chr12:57633209-57633259	NHBE	bronchial:	n/a
6	chr12:57633209-57633259	AG09309	skin:	n/a
7	chr12:57633209-57633259	HCT-116	colon:	n/a
8	chr12:57633209-57633259	NH-A	brain:	n/a
9	chr12:57633209-57633259	SK-N-SH	brain:	n/a
10	chr12:57633209-57633259	MCF-7	breast:	n/a
11	chr12:57633209-57633259	GM19239	blood:	n/a
12	chr12:57633209-57633259	LNCaP	prostate:	n/a
13	chr12:57633209-57633259	AoSMC	blood vessel:	n/a
14	chr12:57633209-57633259	GM12878	blood:	n/a
15	chr12:57633209-57633259	AG10803	skin:	n/a
16	chr12:57633209-57633259	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:57633209-57633259	HIPEpiC	eye:	n/a
18	chr12:57633209-57633259	Jurkat	blood:	n/a
19	chr12:57633209-57633259	HEEpiC	esophagus:	n/a
20	chr12:57633209-57633259	A549	lung:	n/a
21	chr12:57633209-57633259	SAEC	small airway:	n/a
22	chr12:57633209-57633259	PANC-1	pancreas:	n/a
23	chr12:57633209-57633259	CMK	blood:	n/a
24	chr12:57633209-57633259	HCPEpiC	choroid plexus:	n/a
25	chr12:57633209-57633259	PFSK-1	brain:	n/a
26	chr12:57633209-57633259	HL-60	blood:	n/a
27	chr12:57633209-57633259	HAEpiC	amniotic membrane:	n/a
28	chr12:57633209-57633259	SK-N-MC	brain:	n/a
29	chr12:57633209-57633259	HRCEpiC	kidney:	n/a
30	chr12:57633209-57633259	NHDF-neo	bronchial:	n/a
31	chr12:57633209-57633259	U87	brain:	n/a
32	chr12:57633209-57633259	HCM	heart:	n/a
33	chr12:57633209-57633259	MCF10A-Er-Src	breast:	n/a
34	chr12:57633209-57633259	AG04450	lung:	fetal
35	chr12:57633209-57633259	GM06990	blood:	n/a
36	chr12:57633209-57633259	SKMC	muscle:	n/a
37	chr12:57633209-57633259	HepG2	liver:	n/a
38	chr12:57633209-57633259	HNPCEpiC	eye:	n/a
39	chr12:57633209-57633259	BE2_C	brain:	n/a
40	chr12:57633209-57633259	H1-hESC	embryonic stem cell:	embryo
41	chr12:57633209-57633259	HRE	kidney:	n/a
42	chr12:57633209-57633259	Caco-2	colon:	n/a
43	chr12:57633209-57633259	ProgFib	skin:	n/a
44	chr12:57633209-57633259	NB4	blood:	n/a
45	chr12:57633209-57633259	Hepatocyte	liver:	n/a
46	chr12:57633209-57633259	NT2-D1	testis:	n/a
47	chr12:57633209-57633259	HUVEC	blood vessel:	n/a
48	chr12:57633209-57633259	K562	blood:	n/a
49	chr12:57633209-57633259	ECC-1	luminal epithelium:	n/a
50	chr12:57633209-57633259	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57593061..57596040-chr12:57632973..57635946,3	K562	blood:
2	chr12:57517767..57518696-chr12:57632482..57633508,3	K562	blood:
3	chr12:57520657..57521652-chr12:57632774..57633462,3	K562	blood:
4	chr12:57633078..57634752-chr12:120728472..120731115,2	MCF-7	breast:
5	chr12:57521132..57523355-chr12:57632415..57635225,2	K562	blood:
6	chr12:57606014..57610025-chr12:57631623..57633806,36	MCF-7	breast:
7	chr12:57589480..57590009-chr12:57632560..57633434,2	K562	blood:
8	chr12:57470699..57473429-chr12:57632698..57634398,2	K562	blood:
9	chr12:57619518..57620021-chr12:57632553..57633488,2	K562	blood:
10	chr12:57503621..57505851-chr12:57632604..57634252,2	K562	blood:
11	chr12:57503657..57505571-chr12:57633144..57635959,2	MCF-7	breast:
12	chr12:57480983..57482785-chr12:57632778..57634308,2	MCF-7	breast:
13	chr12:57480809..57483587-chr12:57632653..57634383,3	K562	blood:
14	chr12:57632695..57633514-chr4:126234275..126235273,2	K562	blood:
15	chr12:57623178..57624004-chr12:57632539..57633494,3	K562	blood:
16	chr12:57585683..57586259-chr12:57632623..57633497,2	MCF-7	breast:
17	chr12:57631554..57633382-chr12:58003951..58005749,2	K562	blood:
18	chr12:57613858..57614542-chr12:57632990..57633523,2	K562	blood:
19	chr12:57632643..57633417-chr17:59660761..59661652,2	MCF-7	breast:
20	chr12:57632290..57634209-chr12:57884185..57886954,2	K562	blood:
21	chr12:57462991..57463841-chr12:57632858..57633512,2	MCF-7	breast:
22	chr12:57578498..57581339-chr12:57631776..57634298,3	K562	blood:
23	chr12:57576287..57581339-chr12:57631330..57634021,5	K562	blood:
24	chr12:57632502..57635395-chr12:58164755..58167639,2	MCF-7	breast:
25	chr12:57567624..57569926-chr12:57631899..57633807,2	K562	blood:
26	chr12:57478737..57483929-chr12:57633097..57638164,8	MCF-7	breast:
27	chr12:57401699..57402552-chr12:57632542..57633402,2	K562	blood:
28	chr12:57623530..57624373-chr12:57632615..57633488,3	MCF-7	breast:
29	chr12:57569385..57570138-chr12:57632553..57633485,3	K562	blood:
30	chr12:57606321..57611608-chr12:57631519..57634473,101	MCF-7	breast:
31	chr12:57609376..57611039-chr12:57632230..57633572,6	K562	blood:
32	chr12:57631992..57634465-chr12:57823109..57824873,2	K562	blood:
33	chr12:57632630..57633594-chrX:100023805..100024336,2	MCF-7	breast:

Variant related genes	Relation type
NDUFA4L2	TF binding region
NDUFA4L2	CpG island
ENSG00000166888	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000182199	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000182379	Chromatin interaction
ENSG00000037897	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11832661	0.81[AMR][1000 genomes]
rs11834319	0.81[AMR][1000 genomes]
rs1463241	0.91[AMR][1000 genomes]
rs34223830	0.83[EUR][1000 genomes]
rs34714459	0.83[EUR][1000 genomes]
rs7132968	0.81[AMR][1000 genomes]
rs7958942	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57628600-57636200	Weak transcription	Hela-S3	cervix
2	chr12:57629000-57634400	Bivalent Enhancer	Stomach Mucosa	stomach
3	chr12:57631000-57633800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:57631400-57633600	Enhancers	Spleen	Spleen
5	chr12:57631400-57634400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:57631600-57633800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57631600-57634600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:57631600-57635000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:57631600-57635600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:57631800-57633400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:57631800-57633400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
12	chr12:57631800-57633800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
13	chr12:57631800-57634000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:57631800-57634200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:57631800-57634200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:57631800-57634200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:57631800-57634400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:57631800-57634800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr12:57631800-57634800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:57631800-57634800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr12:57631800-57635000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:57631800-57635000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr12:57631800-57635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr12:57632000-57633400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:57632000-57633400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
26	chr12:57632000-57633400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:57632000-57633400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:57632000-57633600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
29	chr12:57632000-57633800	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr12:57632000-57634000	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:57632000-57634400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:57632000-57634400	Active TSS	Brain Angular Gyrus	brain
33	chr12:57632000-57634800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr12:57632000-57635000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:57632000-57635000	Flanking Active TSS	Right Ventricle	heart
36	chr12:57632000-57635000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr12:57632000-57635200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr12:57632200-57634000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:57632200-57634200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:57632200-57634200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:57632200-57635200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:57632400-57633400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr12:57632400-57633400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:57632400-57633800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr12:57632400-57634000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:57632400-57634200	Enhancers	Lung	lung
47	chr12:57632400-57634400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:57632400-57634400	Active TSS	NHDF-Ad	bronchial
49	chr12:57632400-57634400	Flanking Active TSS	Osteobl	bone
50	chr12:57632400-57634600	Flanking Active TSS	K562	blood

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