Variant report

Variant	rs1814721
Chromosome Location	chr11:5705320-5705321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:5704924-5706864	GM15510	blood:	n/a	n/a
2	POLR2A	chr11:5703536-5706824	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:5704925-5706866	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:5704914-5705347	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:5704569-5705462	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:5704860-5705346	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:5704791-5706700	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:5704949-5706674	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:5704925-5706532	PBDE	blood:	n/a	n/a
10	NFYB	chr11:5704605-5705595	GM12878	blood:	n/a	chr11:5705025-5705040
11	POLR2A	chr11:5704923-5705350	GM12878	blood:	n/a	n/a
12	WRNIP1	chr11:5705318-5706572	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:5705006-5705387	GM12892	blood:	n/a	n/a
14	POU2F2	chr11:5704872-5706595	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:5704753-5706635	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:5704993-5705323	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:5704926-5706625	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:5704793-5705403	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:5704925-5706840	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
2	chr11:5700658..5702927-chr11:5704276..5706133,2	K562	blood:
3	11:5033143-5038367..11:5700314-5707362	K562	blood:
4	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
5	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
6	chr11:5524818..5527723-chr11:5704615..5707499,2	K562	blood:

No data

Variant related genes	Relation type
TRIM5	TF binding region
ENSG00000167355	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000176951	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000224300	Chromatin interaction
ENSG00000231070	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000196565	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10734538	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12786517	0.93[ASN][1000 genomes]
rs16926648	0.93[ASN][1000 genomes]
rs1814720	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4329717	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4579958	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4910835	0.92[ASN][1000 genomes]
rs4992800	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4992803	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7124435	0.85[ASN][1000 genomes]
rs885002	0.97[ASN][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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
2	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:5685400-5705400	Weak transcription	Stomach Mucosa	stomach
5	chr11:5688000-5705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:5691000-5705400	Weak transcription	Fetal Brain Male	brain
7	chr11:5694200-5705400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:5697000-5705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:5698200-5705400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:5700200-5705400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:5700200-5705400	Weak transcription	HepG2	liver
12	chr11:5700400-5705400	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:5700600-5705400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:5700600-5705400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:5700600-5705600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:5701000-5705400	Weak transcription	NHDF-Ad	bronchial
17	chr11:5701200-5705400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:5701400-5705400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:5701400-5705400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:5701400-5705400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:5701400-5705400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:5701400-5705400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:5701400-5705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:5701400-5705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:5701400-5705400	Weak transcription	Ovary	ovary
26	chr11:5701400-5705400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:5701400-5705400	Weak transcription	HMEC	breast
28	chr11:5701400-5705600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:5701400-5705800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:5701600-5705400	Weak transcription	Placenta	Placenta
31	chr11:5701800-5705400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:5702600-5705400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:5704000-5705400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:5704000-5705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:5704400-5705400	Enhancers	Aorta	Aorta
36	chr11:5704600-5705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:5704600-5705400	Weak transcription	Esophagus	oesophagus
38	chr11:5704600-5705400	Weak transcription	Left Ventricle	heart
39	chr11:5704600-5705400	Weak transcription	Right Atrium	heart
40	chr11:5704600-5705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:5704600-5705600	Weak transcription	Gastric	stomach
42	chr11:5704600-5705600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:5704600-5705600	Weak transcription	Spleen	Spleen
44	chr11:5704600-5705800	Active TSS	Dnd41	blood
45	chr11:5704600-5706600	Active TSS	Colonic Mucosa	Colon
46	chr11:5704600-5706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:5704600-5706800	Active TSS	Stomach Smooth Muscle	stomach
48	chr11:5704800-5705400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:5704800-5705400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:5704800-5705400	Active TSS	Primary hematopoietic stem cells	blood

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