Variant report

Variant	rs3758683
Chromosome Location	chr11:18429548-18429549
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18429359-18430999	PANC-1	pancreas:	n/a	n/a
2	CEBPB	chr11:18429018-18429652	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:18429310-18430390	K562	blood:	n/a	n/a
4	BCL3	chr11:18428976-18431218	A549	lung:	n/a	n/a
5	MYBL2	chr11:18428852-18430850	HepG2	liver:	n/a	n/a
6	MBD4	chr11:18429312-18430964	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:18429060-18429676	A549	lung:	n/a	n/a
8	POLR2A	chr11:18429530-18430989	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:18426330-18430949	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:18428646-18430926	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:18428761-18430848	HepG2	liver:	n/a	n/a
12	ARID3A	chr11:18429056-18429644	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:18428875-18431440	A549	lung:	n/a	n/a
14	POLR2A	chr11:18429472-18431508	IMR90	lung:	n/a	n/a
15	HEY1	chr11:18428579-18430903	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:18428498-18431298	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:18428955-18430921	K562	blood:	n/a	n/a
18	POLR2A	chr11:18429311-18430957	HL-60	blood:	n/a	n/a
19	CEBPB	chr11:18429308-18429653	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:18429487-18431430	ProgFib	skin:	n/a	n/a
21	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
22	MBD4	chr11:18428935-18430840	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:18429515-18430982	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:18429519-18430911	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:18426347-18431429	PFSK-1	brain:	n/a	n/a
26	CEBPB	chr11:18429349-18429650	K562	blood:	n/a	n/a
27	POLR2A	chr11:18428177-18432634	U87	brain:	n/a	n/a
28	POLR2A	chr11:18428618-18431000	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:18429465-18430759	K562	blood:	n/a	n/a
30	PML	chr11:18429342-18430622	K562	blood:	n/a	n/a
31	POLR2A	chr11:18428440-18431439	GM12891	blood:	n/a	n/a
32	BCL3	chr11:18429501-18430863	K562	blood:	n/a	n/a
33	CEBPB	chr11:18429392-18429612	IMR90	lung:	n/a	n/a
34	POLR2A	chr11:18428593-18431268	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:18429022-18430855	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:18428589-18431070	K562	blood:	n/a	n/a
37	POLR2A	chr11:18429530-18430870	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:18426688-18431044	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:18429497-18430894	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:18428444-18431399	K562	blood:	n/a	n/a
41	POLR2A	chr11:18428323-18432585	GM12878	blood:	n/a	n/a
42	FOS	chr11:18429025-18429616	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:18429502-18430949	HUVEC	blood vessel:	n/a	n/a
44	TEAD4	chr11:18429361-18429880	K562	blood:	n/a	n/a
45	POLR2A	chr11:18429508-18430961	GM12892	blood:	n/a	n/a
46	POLR2A	chr11:18429466-18431465	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:18428613-18431437	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:18429347-18430961	HCT-116	colon:	n/a	n/a
49	POLR2A	chr11:18415373-18432749	U87	brain:	n/a	n/a
50	POLR2A	chr11:18429435-18430866	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18398568..18400836-chr11:18427462..18430326,2	MCF-7	breast:
2	chr11:18406695..18409198-chr11:18428247..18430111,2	K562	blood:
3	chr11:18415543..18417980-chr11:18429058..18431461,3	K562	blood:
4	chr11:18428578..18433796-chr11:18433952..18441799,12	K562	blood:
5	chr11:18415665..18418550-chr11:18429109..18431220,2	MCF-7	breast:
6	chr11:18429091..18432597-chr11:18437736..18442022,5	K562	blood:
7	chr11:18419996..18422097-chr11:18428785..18430371,2	K562	blood:
8	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:
9	chr11:18429496..18431588-chr11:18458511..18461417,2	K562	blood:
10	chr11:18429142..18431296-chr11:18432609..18435165,2	K562	blood:
11	chr11:18423297..18429050-chr11:18429237..18433863,11	K562	blood:

No data

Variant related genes	Relation type
LDHC	TF binding region
ENSG00000256006	Chromatin interaction
ENSG00000166796	Chromatin interaction
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10766473	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10766475	0.95[JPT][hapmap]
rs10766476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832926	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832927	0.95[JPT][hapmap]
rs11024636	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1830425	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1830426	0.95[JPT][hapmap]
rs1881716	0.95[JPT][hapmap]
rs2403278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2403279	0.95[JPT][hapmap]
rs2403280	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2403298	0.88[AMR][1000 genomes]
rs3758680	0.95[JPT][hapmap]
rs3758681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758682	0.95[JPT][hapmap]
rs3781641	0.95[JPT][hapmap]
rs3809096	0.84[JPT][hapmap]
rs4274186	0.95[JPT][hapmap]
rs6486422	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6486423	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6486424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486425	0.95[JPT][hapmap]
rs7106099	0.95[JPT][hapmap]
rs7111748	0.94[JPT][hapmap]
rs7112492	0.95[JPT][hapmap]
rs7121244	0.95[JPT][hapmap]
rs7128549	0.95[JPT][hapmap]
rs7129689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7925445	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7938267	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7938942	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7943847	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7946331	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][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	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
7	nsv982991	chr11:18424852-18431306	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr11:18418200-18433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18418400-18430600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:18418400-18430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:18418400-18430800	Strong transcription	Left Ventricle	heart
5	chr11:18418400-18433200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:18418600-18429800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr11:18418600-18430400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:18418600-18430400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr11:18418600-18430400	Strong transcription	Placenta	Placenta
10	chr11:18418600-18430400	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr11:18418600-18430400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:18418600-18430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:18418600-18430600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:18418600-18430600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr11:18418600-18430800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:18418600-18430800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:18418600-18430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:18418600-18430800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:18418600-18430800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:18418600-18430800	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:18418600-18430800	Strong transcription	Fetal Stomach	stomach
22	chr11:18418600-18430800	Strong transcription	Fetal Thymus	thymus
23	chr11:18418600-18430800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:18418600-18430800	Strong transcription	Right Ventricle	heart
25	chr11:18418800-18430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:18418800-18430600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:18418800-18430600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:18418800-18430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:18418800-18430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:18418800-18430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:18418800-18430800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:18418800-18430800	Strong transcription	Adipose Nuclei	Adipose
33	chr11:18418800-18430800	Strong transcription	Osteobl	bone
34	chr11:18418800-18431000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:18419000-18430000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:18419000-18430400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:18419000-18430600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:18419000-18430800	Strong transcription	Brain Anterior Caudate	brain
39	chr11:18419000-18430800	Strong transcription	Fetal Intestine Small	intestine
40	chr11:18419000-18431400	Strong transcription	HSMM	muscle
41	chr11:18419200-18430400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:18419200-18430400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:18419200-18430400	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:18419200-18430600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:18419200-18430600	Strong transcription	Spleen	Spleen
46	chr11:18419400-18430200	Strong transcription	HUVEC	blood vessel
47	chr11:18419400-18430400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:18419600-18430800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:18419800-18430200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:18419800-18430200	Strong transcription	Muscle Satellite Cultured Cells	--

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