Variant report

Variant	rs12273085
Chromosome Location	chr11:19138511-19138512
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:210)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr11:19138311-19138956	GM12878	blood:	n/a	n/a
2	TCF12	chr11:19138173-19139257	A549	lung:	n/a	n/a
3	IRF1	chr11:19138327-19138902	K562	blood:	n/a	chr11:19138702-19138711 chr11:19138597-19138611
4	POLR2A	chr11:19138366-19139009	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:19138423-19139067	PANC-1	pancreas:	n/a	n/a
6	HCFC1	chr11:19138409-19139257	K562	blood:	n/a	n/a
7	POLR2A	chr11:19138322-19138982	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:19138461-19139186	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr11:19138349-19138801	K562	blood:	n/a	n/a
10	YY1	chr11:19138497-19138896	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:19138335-19139522	HUVEC	blood vessel:	n/a	n/a
12	YY1	chr11:19138371-19139236	HepG2	liver:	n/a	chr11:19139043-19139057
13	POLR2A	chr11:19138427-19139072	Gliobla	brain:	n/a	n/a
14	CTCF	chr11:19138482-19139288	GM12878	blood:	n/a	chr11:19139078-19139091 chr11:19139075-19139088 chr11:19139076-19139086
15	HCFC1	chr11:19138204-19139702	Hela-S3	cervix:	n/a	n/a
16	IRF3	chr11:19138508-19138778	GM12878	blood:	n/a	chr11:19138702-19138711 chr11:19138597-19138611
17	MAZ	chr11:19138406-19139315	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:19138353-19139395	U87	brain:	n/a	n/a
19	ZBTB7A	chr11:19138236-19139365	ECC-1	luminal epithelium:	n/a	chr11:19139074-19139083 chr11:19139350-19139357
20	RUNX3	chr11:19138414-19139006	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:19137874-19139543	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:19138384-19138532	A549	lung:	n/a	n/a
23	ELK1	chr11:19138362-19138708	K562	blood:	n/a	n/a
24	ELF1	chr11:19138427-19138949	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:19137842-19139289	GM12892	blood:	n/a	n/a
26	NFYB	chr11:19138398-19138863	K562	blood:	n/a	n/a
27	SP2	chr11:19138405-19138762	K562	blood:	n/a	chr11:19138541-19138556 chr11:19138599-19138614
28	TCF7L2	chr11:19138470-19139338	HCT-116	colon:	n/a	n/a
29	POLR2A	chr11:19138329-19138969	GM12892	blood:	n/a	n/a
30	MAZ	chr11:19137866-19139249	GM12878	blood:	n/a	n/a
31	GABPA	chr11:19138424-19138919	MCF-7	breast:	n/a	chr11:19138539-19138548
32	TAF1	chr11:19138506-19138871	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:19137995-19139315	GM19193	blood:	n/a	n/a
34	NFYA	chr11:19138501-19138846	GM12878	blood:	n/a	chr11:19138619-19138637
35	MAX	chr11:19138323-19138821	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZBTB7A	chr11:19138325-19139285	ECC-1	luminal epithelium:	n/a	chr11:19139074-19139083
37	SIN3AK20	chr11:19138294-19139629	MCF-7	breast:	n/a	n/a
38	MAX	chr11:19138297-19139352	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:19138348-19138957	K562	blood:	n/a	n/a
40	POLR2A	chr11:19138484-19139149	ECC-1	luminal epithelium:	n/a	n/a
41	FOXP2	chr11:19138427-19138911	PFSK-1	brain:	n/a	n/a
42	ELF1	chr11:19138501-19138823	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:19138434-19139304	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:19138347-19139458	U87	brain:	n/a	n/a
45	MAX	chr11:19138443-19139199	ECC-1	luminal epithelium:	n/a	n/a
46	SP1	chr11:19138406-19138766	H1-hESC	embryonic stem cell:	n/a	chr11:19138599-19138610 chr11:19138600-19138609 chr11:19138545-19138557 chr11:19138600-19138614 chr11:19138599-19138611 chr11:19138484-19138493
47	RCOR1	chr11:19138310-19139447	GM12878	blood:	n/a	n/a
48	SP1	chr11:19138373-19138796	HepG2	liver:	n/a	chr11:19138599-19138610 chr11:19138600-19138609 chr11:19138545-19138557 chr11:19138600-19138614 chr11:19138599-19138611 chr11:19138484-19138493
49	E2F1	chr11:19138501-19138885	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:19138364-19139538	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:19138474-19138524	A549	lung:	n/a
2	chr11:19138474-19138524	HCPEpiC	choroid plexus:	n/a
3	chr11:19138474-19138524	Jurkat	blood:	n/a
4	chr11:19138474-19138524	HAEpiC	amniotic membrane:	n/a
5	chr11:19138474-19138524	HMEC	breast:	n/a
6	chr11:19138474-19138524	MCF-7	breast:	n/a
7	chr11:19138474-19138524	HepG2	liver:	n/a
8	chr11:19138474-19138524	NH-A	brain:	n/a
9	chr11:19138474-19138524	K562	blood:	n/a
10	chr11:19138474-19138524	HNPCEpiC	eye:	n/a
11	chr11:19138474-19138524	AoSMC	blood vessel:	n/a
12	chr11:19138474-19138524	SK-N-SH_RA	brain:	n/a
13	chr11:19138474-19138524	IMR90	lung:	fetal
14	chr11:19138474-19138524	CMK	blood:	n/a
15	chr11:19138474-19138524	HRCEpiC	kidney:	n/a
16	chr11:19138474-19138524	HUVEC	blood vessel:	n/a
17	chr11:19138474-19138524	GM12892	blood:	n/a
18	chr11:19138474-19138524	GM12891	blood:	n/a
19	chr11:19138474-19138524	MCF10A-Er-Src	breast:	n/a
20	chr11:19138474-19138524	SK-N-SH	brain:	n/a
21	chr11:19138474-19138524	ovcar-3	ovarian:	n/a
22	chr11:19138474-19138524	HCT-116	colon:	n/a
23	chr11:19138474-19138524	U87	brain:	n/a
24	chr11:19138474-19138524	AG04450	lung:	fetal
25	chr11:19138474-19138524	SKMC	muscle:	n/a
26	chr11:19138474-19138524	AG04449	skin:	fetal
27	chr11:19138474-19138524	HRPEpiC	eye:	n/a
28	chr11:19138474-19138524	GM06990	blood:	n/a
29	chr11:19138474-19138524	BJ	skin:	n/a
30	chr11:19138474-19138524	H1-hESC	embryonic stem cell:	embryo
31	chr11:19138474-19138524	SAEC	small airway:	n/a
32	chr11:19138474-19138524	PANC-1	pancreas:	n/a
33	chr11:19138474-19138524	BE2_C	brain:	n/a
34	chr11:19138474-19138524	Caco-2	colon:	n/a
35	chr11:19138474-19138524	HCF	heart:	n/a
36	chr11:19138474-19138524	PrEC	prostate:	n/a
37	chr11:19138474-19138524	T-47D	breast:	n/a
38	chr11:19138474-19138524	Hepatocyte	liver:	n/a
39	chr11:19138474-19138524	PFSK-1	brain:	n/a
40	chr11:19138474-19138524	NHBE	bronchial:	n/a
41	chr11:19138474-19138524	NT2-D1	testis:	n/a
42	chr11:19138474-19138524	NHDF-neo	bronchial:	n/a
43	chr11:19138474-19138524	ECC-1	luminal epithelium:	n/a
44	chr11:19138474-19138524	HEEpiC	esophagus:	n/a
45	chr11:19138474-19138524	Hela-S3	cervix:	n/a
46	chr11:19138474-19138524	AG09319	gingival:	n/a
47	chr11:19138474-19138524	HL-60	blood:	n/a
48	chr11:19138474-19138524	NB4	blood:	n/a
49	chr11:19138474-19138524	GM19239	blood:	n/a
50	chr11:19138474-19138524	GM12878	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:19137492..19139036-chr11:19169967..19172250,2	MCF-7	breast:
2	chr11:19081397..19083267-chr11:19138143..19140482,2	MCF-7	breast:
3	chr11:19138213..19140336-chr11:19296347..19298663,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC13	TF binding region
ZDHHC13	CpG island
ENSG00000254544	Chromatin interaction
ENSG00000177054	Chromatin interaction
ENSG00000183695	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10500841	0.92[EUR][1000 genomes]
rs10741761	0.92[EUR][1000 genomes]
rs10766528	0.92[EUR][1000 genomes]
rs10833064	0.92[EUR][1000 genomes]
rs10833065	0.92[EUR][1000 genomes]
rs11025025	0.91[EUR][1000 genomes]
rs11025026	0.91[EUR][1000 genomes]
rs11025028	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11025037	0.89[EUR][1000 genomes]
rs11604471	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11604483	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11606057	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11607797	0.89[EUR][1000 genomes]
rs12270581	0.89[EUR][1000 genomes]
rs12801321	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1503506	0.92[EUR][1000 genomes]
rs1503507	0.92[EUR][1000 genomes]
rs1503508	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1546327	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2042687	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2042688	0.87[EUR][1000 genomes]
rs2134622	0.89[EUR][1000 genomes]
rs2271001	0.89[EUR][1000 genomes]
rs28891775	0.87[EUR][1000 genomes]
rs3802796	0.89[EUR][1000 genomes]
rs3802797	0.89[EUR][1000 genomes]
rs3802798	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4515942	0.81[EUR][1000 genomes]
rs4756990	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4757757	0.92[EUR][1000 genomes]
rs4757758	0.92[EUR][1000 genomes]
rs4757759	0.89[EUR][1000 genomes]
rs4757760	0.89[EUR][1000 genomes]
rs7111105	0.93[EUR][1000 genomes]
rs7129212	0.92[EUR][1000 genomes]
rs7129326	0.92[EUR][1000 genomes]
rs7950603	0.90[EUR][1000 genomes]
rs7950788	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19125000-19138600	Weak transcription	Gastric	stomach
2	chr11:19138000-19138600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr11:19138000-19138600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr11:19138000-19138600	Enhancers	Stomach Mucosa	stomach
5	chr11:19138000-19138600	Flanking Active TSS	Dnd41	blood
6	chr11:19138000-19138600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:19138000-19139200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:19138000-19139200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:19138000-19139200	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:19138000-19139200	Active TSS	Osteobl	bone
11	chr11:19138000-19139400	Active TSS	Colon Smooth Muscle	Colon
12	chr11:19138000-19139400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:19138000-19139600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:19138000-19139600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:19138000-19139600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:19138000-19139800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:19138000-19139800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:19138000-19140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:19138000-19140200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:19138200-19138600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:19138200-19138600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr11:19138200-19138600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:19138200-19138600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:19138200-19138600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:19138200-19138600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr11:19138200-19138600	Enhancers	HSMMtube	muscle
27	chr11:19138200-19138800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:19138200-19139000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
29	chr11:19138200-19139000	Active TSS	Psoas Muscle	Psoas
30	chr11:19138200-19139200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:19138200-19139200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr11:19138200-19139200	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:19138200-19139200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:19138200-19139200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:19138200-19139200	Active TSS	Brain Substantia Nigra	brain
36	chr11:19138200-19139200	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr11:19138200-19139200	Active TSS	Fetal Thymus	thymus
38	chr11:19138200-19139400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:19138200-19139400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:19138200-19139400	Active TSS	Brain Angular Gyrus	brain
41	chr11:19138200-19139400	Active TSS	Brain Cingulate Gyrus	brain
42	chr11:19138200-19139400	Active TSS	Fetal Kidney	kidney
43	chr11:19138200-19139600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr11:19138200-19139600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:19138200-19139600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:19138200-19139600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:19138200-19139600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:19138200-19139600	Active TSS	Colonic Mucosa	Colon
49	chr11:19138200-19139600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:19138200-19139600	Active TSS	Ovary	ovary

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