Variant report

Variant	rs12278153
Chromosome Location	chr11:18416313-18416314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:416)
CpG islands
(count:0)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:416 , 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	NFYB	chr11:18415772-18416388	K562	blood:	n/a	n/a
2	MAX	chr11:18415394-18417156	K562	blood:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
3	POLR2A	chr11:18415720-18416548	Gliobla	brain:	n/a	n/a
4	POLR2A	chr11:18415382-18418227	K562	blood:	n/a	n/a
5	POLR2A	chr11:18415374-18419965	PFSK-1	brain:	n/a	n/a
6	REST	chr11:18415751-18416348	K562	blood:	n/a	chr11:18415900-18415908
7	SIN3AK20	chr11:18415624-18416709	MCF-7	breast:	n/a	n/a
8	TAF1	chr11:18415755-18416458	HepG2	liver:	n/a	n/a
9	MYC	chr11:18415519-18416804	MCF10A-Er-Src	breast:	n/a	chr11:18415924-18415931 chr11:18415923-18415932
10	TAF1	chr11:18415866-18416359	SK-N-SH	brain:	n/a	n/a
11	UBTF	chr11:18415481-18417943	K562	blood:	n/a	n/a
12	TAF1	chr11:18415696-18416411	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:18415562-18418240	MCF-7	breast:	n/a	n/a
14	HEY1	chr11:18415397-18418254	K562	blood:	n/a	chr11:18416059-18416068 chr11:18416057-18416066
15	HMGN3	chr11:18415787-18416504	K562	blood:	n/a	n/a
16	MAX	chr11:18415719-18416630	HUVEC	blood vessel:	n/a	chr11:18415924-18415931 chr11:18415923-18415932
17	TBP	chr11:18415654-18416326	GM12878	blood:	n/a	n/a
18	TBP	chr11:18415496-18416365	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr11:18415773-18416918	GM12878	blood:	n/a	n/a
20	NFATC1	chr11:18415955-18416340	GM12878	blood:	n/a	n/a
21	YY1	chr11:18415708-18416329	A549	lung:	n/a	chr11:18416044-18416058
22	POLR2A	chr11:18415616-18416443	SK-N-MC	brain:	n/a	n/a
23	ZNF143	chr11:18415763-18416348	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:18415749-18416377	GM12891	blood:	n/a	n/a
25	POU2F2	chr11:18415713-18416395	GM12891	blood:	n/a	n/a
26	HA-E2F1	chr11:18415552-18416744	MCF-7	breast:	n/a	chr11:18416059-18416068 chr11:18416087-18416102 chr11:18416057-18416066 chr11:18416089-18416101
27	ETS1	chr11:18415724-18416535	A549	lung:	n/a	chr11:18416049-18416060
28	CREB1	chr11:18415479-18416586	K562	blood:	n/a	chr11:18416056-18416069
29	E2F6	chr11:18415713-18416652	K562	blood:	n/a	chr11:18416059-18416068 chr11:18416087-18416102 chr11:18416057-18416066 chr11:18416089-18416101
30	REST	chr11:18415715-18416356	HepG2	liver:	n/a	chr11:18415900-18415908
31	MYC	chr11:18415324-18418072	Hela-S3	cervix:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
32	ELF1	chr11:18415803-18416349	K562	blood:	n/a	n/a
33	POLR2A	chr11:18415539-18416548	HUVEC	blood vessel:	n/a	n/a
34	CREB1	chr11:18415781-18416366	ECC-1	luminal epithelium:	n/a	chr11:18416056-18416069
35	EP300	chr11:18415597-18416404	SK-N-SH	brain:	n/a	n/a
36	SMC3	chr11:18415718-18416563	GM12878	blood:	n/a	n/a
37	TAF1	chr11:18415735-18416358	GM12878	blood:	n/a	n/a
38	CREB1	chr11:18415483-18416468	HepG2	liver:	n/a	chr11:18416056-18416069
39	POU2F2	chr11:18415923-18416376	GM12878	blood:	n/a	n/a
40	MAX	chr11:18415270-18416936	A549	lung:	n/a	chr11:18415924-18415931 chr11:18415923-18415932
41	SP1	chr11:18415328-18416523	A549	lung:	n/a	n/a
42	POLR2A	chr11:18415742-18417294	GM12878	blood:	n/a	n/a
43	JUND	chr11:18415696-18416444	A549	lung:	n/a	chr11:18416049-18416058 chr11:18415855-18415866 chr11:18416045-18416054 chr11:18416058-18416067
44	POLR2A	chr11:18415572-18418315	GM12878	blood:	n/a	n/a
45	MBD4	chr11:18415405-18416484	HepG2	liver:	n/a	n/a
46	HNF4G	chr11:18415836-18416313	HepG2	liver:	n/a	n/a
47	TAF7	chr11:18415960-18416326	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr11:18415705-18416429	H1-hESC	embryonic stem cell:	n/a	chr11:18416056-18416069
49	TAF1	chr11:18415744-18416403	K562	blood:	n/a	n/a
50	SRF	chr11:18415819-18416428	ECC-1	luminal epithelium:	n/a	chr11:18416044-18416054

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18414624..18416918-chr7:148786242..148788890,2	MCF-7	breast:
2	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:
3	chr11:18415664..18416440-chr18:71815010..71815580,2	Hela-S3	cervix:
4	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
5	chr11:18415590..18416496-chr6:30710163..30710987,2	HCT-116	colon:
6	chr11:18365375..18369096-chr11:18414733..18417585,5	MCF-7	breast:
7	chr11:18415873..18420206-chr11:18430045..18435036,6	MCF-7	breast:
8	chr1:117908068..117910617-chr11:18415187..18418094,2	MCF-7	breast:
9	chr11:18416037..18416594-chr17:56708902..56709488,2	HCT-116	colon:
10	chr11:18415810..18416651-chr8:67579307..67579955,2	Hela-S3	cervix:
11	chr11:18415654..18416552-chr17:45973004..45973821,2	Hela-S3	cervix:
12	chr11:18343053..18346262-chr11:18415665..18418898,6	MCF-7	breast:
13	chr11:18416155..18417729-chr20:42084021..42086862,2	MCF-7	breast:
14	chr11:18415280..18417349-chr11:18656133..18657834,2	MCF-7	breast:
15	chr1:11968050..11968943-chr11:18415825..18416455,2	Hela-S3	cervix:
16	chr11:18416054..18417892-chr11:18432317..18434579,2	K562	blood:
17	chr11:18415733..18416650-chr20:62152091..62152621,2	Hela-S3	cervix:
18	chr11:18414231..18417142-chr11:18548434..18550099,2	K562	blood:
19	chr11:18415752..18416398-chr13:45914696..45915493,2	NB4	blood:
20	chr11:16759537..16760106-chr11:18415604..18416458,2	Hela-S3	cervix:
21	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:
22	chr11:18415801..18416462-chr12:92539739..92540347,2	Hela-S3	cervix:
23	chr11:18342491..18345045-chr11:18415566..18419495,5	MCF-7	breast:
24	chr11:18366987..18369152-chr11:18416005..18417921,2	MCF-7	breast:
25	chr11:776928..777866-chr11:18415866..18416625,2	NB4	blood:
26	chr11:18416054..18416559-chr22:31892154..31892989,2	Hela-S3	cervix:
27	chr11:18415399..18418482-chr11:18547632..18550708,3	MCF-7	breast:
28	chr11:18415715..18416570-chr12:64845567..64846239,2	Hela-S3	cervix:
29	chr11:18415166..18418061-chr11:18653248..18658001,5	K562	blood:
30	chr11:18416044..18417626-chr11:18558294..18561234,2	MCF-7	breast:
31	chr11:18414619..18417567-chr11:18475840..18478644,2	K562	blood:
32	chr11:18415765..18417941-chr11:18547561..18549649,2	K562	blood:
33	chr11:18152566..18154757-chr11:18415660..18417661,2	K562	blood:
34	chr11:18342812..18343809-chr11:18416058..18416846,3	NB4	blood:
35	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:
36	chr11:18415848..18416355-chr14:60631579..60632232,2	Hela-S3	cervix:
37	chr11:18415688..18416625-chr12:123236985..123237921,2	NB4	blood:
38	chr11:18415945..18416534-chr5:10249417..10250412,2	Hela-S3	cervix:
39	chr1:38455002..38455687-chr11:18415949..18416911,2	HCT-116	colon:
40	chr10:103577886..103578611-chr11:18415665..18416466,2	Hela-S3	cervix:
41	chr11:18416119..18416955-chr7:99933156..99933912,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
LDHA	TF binding region
ENSG00000150756	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000255284	Chromatin interaction
ENSG00000242294	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000272752	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000271427	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000166796	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000125534	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000110696	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000179826	Chromatin interaction
ENSG00000170919	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000177225	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000197362	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000256006	Chromatin interaction
ENSG00000141665	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000183431	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000198162	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000100612	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000133112	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000166800	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11024649	0.83[AFR][1000 genomes]
rs4150676	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr11:18415400-18416800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:18415400-18416800	Active TSS	Brain Substantia Nigra	brain
3	chr11:18415400-18417600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:18415400-18418000	Active TSS	Fetal Kidney	kidney
5	chr11:18415400-18418400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:18415600-18416400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:18415600-18416600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr11:18415600-18416600	Active TSS	Brain Germinal Matrix	brain
9	chr11:18415600-18416800	Active TSS	Fetal Brain Female	brain
10	chr11:18415600-18417000	Active TSS	Fetal Lung	lung
11	chr11:18415600-18417600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:18415600-18418000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:18415600-18418000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:18415600-18418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:18415600-18418200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:18415600-18418200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:18415600-18418200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr11:18415600-18418200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:18415600-18418400	Active TSS	Psoas Muscle	Psoas
20	chr11:18415800-18416400	Active TSS	Rectal Smooth Muscle	rectum
21	chr11:18415800-18416400	Transcr. at gene 5' and 3'	Right Atrium	heart
22	chr11:18415800-18417000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:18415800-18417000	Active TSS	Stomach Smooth Muscle	stomach
24	chr11:18415800-18417600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:18415800-18417800	Active TSS	Liver	Liver
26	chr11:18415800-18417800	Active TSS	NHEK	skin
27	chr11:18415800-18418000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:18415800-18418000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:18415800-18418000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:18415800-18418000	Active TSS	Brain Angular Gyrus	brain
31	chr11:18415800-18418000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:18415800-18418000	Active TSS	Left Ventricle	heart
33	chr11:18415800-18418000	Active TSS	Lung	lung
34	chr11:18415800-18418000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr11:18415800-18418200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:18415800-18418200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:18415800-18418200	Active TSS	Esophagus	oesophagus
38	chr11:18415800-18418200	Active TSS	Ovary	ovary
39	chr11:18415800-18418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:18415800-18418400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:18415800-18418400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:18415800-18418400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:18415800-18418400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:18415800-18418400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:18415800-18418400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:18415800-18418400	Active TSS	Brain Hippocampus Middle	brain
47	chr11:18415800-18418400	Flanking Active TSS	Placenta	Placenta
48	chr11:18415800-18418400	Active TSS	Small Intestine	intestine
49	chr11:18416000-18416400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:18416000-18416400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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