Variant report

Variant	rs34891773
Chromosome Location	chr11:65631361-65631362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr11:65630948-65633633	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:65630365-65633811	ProgFib	skin:	n/a	n/a
3	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
4	POLR2A	chr11:65630140-65633694	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:65630457-65632250	K562	blood:	n/a	n/a
6	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
7	POLR2A	chr11:65630406-65632402	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:65629110-65633804	K562	blood:	n/a	n/a
9	POLR2A	chr11:65630217-65632301	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:65616706-65640269	U87	brain:	n/a	n/a
11	POLR2A	chr11:65630667-65631382	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:65630762-65633743	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:65631098-65631467	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:65630738-65631663	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:65616501-65633874	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:65630574-65632265	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:65630265-65633866	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:65630461-65632067	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65630101..65632052-chr11:65668031..65671023,2	MCF-7	breast:
2	chr11:65629227..65631870-chr11:65766567..65769342,2	MCF-7	breast:

No data

Variant related genes	Relation type
MUS81	TF binding region
CFL1	TF binding region
ENSG00000175376	Chromatin interaction
ENSG00000175592	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11227335	0.83[AMR][1000 genomes]
rs34484428	1.00[AMR][1000 genomes]
rs35831421	1.00[AMR][1000 genomes]
rs35841983	1.00[AMR][1000 genomes]
rs35957860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41302417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61893863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61893865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61893894	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61895682	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65628200-65633600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:65628800-65639600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65629000-65631600	Genic enhancers	Spleen	Spleen
4	chr11:65629000-65632600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr11:65629000-65639600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:65629200-65631600	Genic enhancers	Fetal Stomach	stomach
7	chr11:65629200-65632800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:65629200-65634600	Strong transcription	Aorta	Aorta
9	chr11:65629400-65631600	Weak transcription	Fetal Kidney	kidney
10	chr11:65629400-65631800	Enhancers	Fetal Heart	heart
11	chr11:65629400-65632600	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr11:65629400-65633200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:65629400-65634400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:65629400-65634400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:65629400-65634800	Strong transcription	Brain Substantia Nigra	brain
16	chr11:65629400-65635200	Strong transcription	Brain Anterior Caudate	brain
17	chr11:65629400-65638600	Weak transcription	Right Atrium	heart
18	chr11:65629600-65631600	Weak transcription	HSMM	muscle
19	chr11:65629600-65631800	Genic enhancers	Rectal Mucosa Donor 29	rectum
20	chr11:65629600-65633400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:65629600-65633400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:65629600-65633600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:65629600-65633600	Strong transcription	Brain Angular Gyrus	brain
24	chr11:65629600-65633800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65629600-65634400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:65629600-65634400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:65629600-65634600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:65629600-65634800	Strong transcription	Primary T cells from cord blood	blood
29	chr11:65629600-65635000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:65629600-65635000	Strong transcription	Esophagus	oesophagus
31	chr11:65629600-65635400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:65629600-65635600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:65629600-65635800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:65629600-65636000	Strong transcription	Thymus	Thymus
35	chr11:65629600-65637400	Strong transcription	Ovary	ovary
36	chr11:65629600-65637600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr11:65629600-65638000	Strong transcription	Fetal Lung	lung
38	chr11:65629800-65632000	Genic enhancers	NH-A	brain
39	chr11:65629800-65632200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:65629800-65633000	Genic enhancers	Dnd41	blood
41	chr11:65629800-65633600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:65629800-65633600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:65629800-65633600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:65629800-65633600	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr11:65629800-65633800	Strong transcription	Primary B cells from cord blood	blood
46	chr11:65629800-65634400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:65629800-65634400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:65629800-65634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:65629800-65634800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:65629800-65634800	Strong transcription	Fetal Brain Female	brain

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