Variant report

Variant	rs11824970
Chromosome Location	chr11:68384013-68384014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:68382713-68386140	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:68383643-68384418	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:68383830-68384524	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:68383103-68386235	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:68383599-68384988	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:68383854-68384306	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:68383082-68385825	K562	blood:	n/a	n/a
8	MAX	chr11:68383992-68384443	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:68383851-68384407	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:68382935-68384148	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:68383753-68384426	HepG2	liver:	n/a	n/a
12	GTF2F1	chr11:68383856-68384416	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:68382823-68384943	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:68382207-68386019	Hela-S3	cervix:	n/a	n/a
15	NFATC1	chr11:68383729-68384049	GM12878	blood:	n/a	n/a
16	MTA3	chr11:68383556-68384099	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:68383585-68384473	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:68383960-68384802	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:68383179-68386648	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:68383439-68384485	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:68383648-68384329	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:68382797-68384467	HL-60	blood:	n/a	n/a
23	POLR2A	chr11:68382164-68385784	K562	blood:	n/a	n/a
24	POLR2A	chr11:68383894-68384067	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:68383593-68384515	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr11:68383614-68384327	K562	blood:	n/a	n/a
27	POLR2A	chr11:68383641-68384519	HL-60	blood:	n/a	n/a
28	E2F6	chr11:68383565-68384537	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOSL2	chr11:68383901-68384334	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:68383900-68384435	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:68382867-68384526	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:68382572-68385409	A549	lung:	n/a	n/a
33	POLR2A	chr11:68383581-68384542	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr11:68383807-68384336	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTL5-1	chr11:68383943-68384179	ENSG00000260808.1

No data

Variant related genes	Relation type
ENSG00000266854	TF binding region
ENSG00000260808	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11828144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs2513276	1.00[EUR][1000 genomes]
rs2924677	1.00[EUR][1000 genomes]
rs34009811	1.00[AMR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs55748366	1.00[AMR][1000 genomes]
rs55859249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55932241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56715418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56748492	1.00[EUR][1000 genomes]
rs57488954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57557564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57669893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60170908	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs73513277	1.00[EUR][1000 genomes]
rs754418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937163	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv897864	chr11:68367007-68453429	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
6	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:68337600-68384600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:68342200-68385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:68351600-68384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:68352800-68384400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:68352800-68384600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:68356600-68384200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:68357000-68384400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:68362200-68384400	Strong transcription	Primary T cells from cord blood	blood
17	chr11:68362400-68385600	Weak transcription	Right Atrium	heart
18	chr11:68362800-68384200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:68363000-68384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:68363000-68384400	Strong transcription	Adipose Nuclei	Adipose
21	chr11:68363000-68384600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:68363200-68384200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:68363200-68384200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:68363200-68384200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:68363200-68384400	Strong transcription	Colon Smooth Muscle	Colon
26	chr11:68363200-68384400	Strong transcription	Thymus	Thymus
27	chr11:68363400-68384400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:68363400-68384600	Strong transcription	HSMM	muscle
29	chr11:68366800-68384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:68371000-68385400	Weak transcription	Fetal Heart	heart
31	chr11:68373600-68384800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:68374600-68384400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr11:68377600-68384600	Weak transcription	Stomach Mucosa	stomach
34	chr11:68379800-68385400	Weak transcription	Psoas Muscle	Psoas
35	chr11:68380400-68385200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:68380800-68385400	Weak transcription	NHDF-Ad	bronchial
37	chr11:68380800-68391200	Weak transcription	K562	blood
38	chr11:68381800-68384200	Strong transcription	Brain Angular Gyrus	brain
39	chr11:68381800-68384200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:68381800-68384200	Strong transcription	Fetal Stomach	stomach
41	chr11:68381800-68384200	Strong transcription	Pancreas	Pancrea
42	chr11:68381800-68384400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:68381800-68384400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:68381800-68384400	Strong transcription	Esophagus	oesophagus
45	chr11:68381800-68384400	Strong transcription	Left Ventricle	heart
46	chr11:68381800-68384400	Strong transcription	Spleen	Spleen
47	chr11:68382000-68384400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:68382000-68384400	Strong transcription	Fetal Brain Female	brain
49	chr11:68382000-68384400	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:68382000-68384400	Strong transcription	NHLF	lung

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