Variant report

Variant	rs2163088
Chromosome Location	chr14:21082584-21082585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:21081189-21082631	HepG2	liver:	n/a	n/a
2	MAX	chr14:21081106-21082635	A549	lung:	n/a	n/a
3	TCF12	chr14:21081016-21082689	A549	lung:	n/a	n/a
4	MYBL2	chr14:21081047-21082623	HepG2	liver:	n/a	n/a
5	GTF3C2	chr14:21081105-21083353	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr14:21081245-21082589	Hela-S3	cervix:	n/a	n/a
7	HDAC2	chr14:21081190-21082595	HepG2	liver:	n/a	chr14:21082038-21082052 chr14:21082561-21082569
8	TBP	chr14:21081189-21082753	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr14:21081174-21082645	MCF-7	breast:	n/a	chr14:21082397-21082404
10	POLR2A	chr14:21082140-21082621	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr14:21081285-21082768	Hela-S3	cervix:	n/a	n/a
12	REST	chr14:21081097-21082780	A549	lung:	n/a	chr14:21081281-21081289
13	RCOR1	chr14:21081247-21082616	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:21081743-21083004	Hela-S3	cervix:	n/a	n/a
15	ZNF263	chr14:21081192-21083302	HEK293-T-REx	kidney:	n/a	n/a
16	ATF3	chr14:21080948-21082655	A549	lung:	n/a	n/a
17	REST	chr14:21080972-21082660	H1-neurons	neurons:	n/a	chr14:21081281-21081289
18	SIN3A	chr14:21081205-21082680	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr14:21081061-21082600	Hela-S3	cervix:	n/a	chr14:21082031-21082045 chr14:21082037-21082051 chr14:21081105-21081115
20	E2F6	chr14:21081402-21082696	A549	lung:	n/a	chr14:21081668-21081677
21	ATF3	chr14:21081027-21082590	A549	lung:	n/a	n/a
22	SREBP2	chr14:21080363-21083538	GM12878	blood:	n/a	n/a
23	TCF7L2	chr14:21081227-21082588	PANC-1	pancreas:	n/a	chr14:21082045-21082054 chr14:21082042-21082056
24	MAX	chr14:21081120-21082632	A549	lung:	n/a	n/a
25	FOXA1	chr14:21081160-21082634	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21081790..21083741-chr14:21155257..21158475,3	MCF-7	breast:
2	chr14:21080972..21084750-chr14:21084835..21087131,4	K562	blood:
3	chr14:20937445..20939249-chr14:21080360..21083340,2	K562	blood:
4	chr14:21081898..21084750-chr14:21085061..21087491,4	K562	blood:
5	chr14:21081050..21083571-chr14:21091223..21093501,2	MCF-7	breast:
6	chr14:20809730..20812813-chr14:21079988..21085543,7	MCF-7	breast:
7	chr14:20895432..20898091-chr14:21080435..21082759,2	K562	blood:
8	chr14:21076925..21085904-chr14:21148436..21153030,11	MCF-7	breast:
9	chr14:21082267..21083970-chr14:21084377..21086175,2	MCF-7	breast:
10	chr14:21082019..21084804-chr14:21090964..21094920,3	K562	blood:
11	chr14:21081693..21084270-chr14:21085719..21089412,4	MCF-7	breast:
12	chr14:21082019..21084804-chr14:21090964..21093768,2	K562	blood:
13	chr14:21080004..21083410-chr14:21093659..21097828,5	MCF-7	breast:
14	chr14:20927999..20930871-chr14:21079824..21083153,3	MCF-7	breast:
15	chr14:21080441..21082979-chr14:21114026..21116094,2	K562	blood:
16	chr14:21081210..21082688-chr14:21125218..21126372,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259060	TF binding region
RNASE11	TF binding region
ENSG00000214274	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000198805	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10129630	1.00[EUR][1000 genomes]
rs17113250	1.00[EUR][1000 genomes]
rs28498996	1.00[EUR][1000 genomes]
rs36219435	1.00[EUR][1000 genomes]
rs7160712	1.00[EUR][1000 genomes]
rs73575070	1.00[EUR][1000 genomes]
rs8006448	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv901468	chr14:20997221-21149785	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21077600-21083000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr14:21080400-21082600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr14:21080600-21082600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr14:21080800-21082800	Active TSS	Psoas Muscle	Psoas
5	chr14:21080800-21083000	Active TSS	Brain Anterior Caudate	brain
6	chr14:21081000-21082800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:21081000-21082800	Active TSS	Colon Smooth Muscle	Colon
8	chr14:21081000-21082800	Flanking Active TSS	Dnd41	blood
9	chr14:21081000-21082800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr14:21081000-21083000	Active TSS	Brain Angular Gyrus	brain
11	chr14:21081000-21083000	Active TSS	NHDF-Ad	bronchial
12	chr14:21081000-21083400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:21081200-21082600	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr14:21081200-21082600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:21081200-21082800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:21081200-21082800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:21081200-21082800	Active TSS	NHLF	lung
18	chr14:21081200-21083000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:21081200-21083000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:21081200-21083000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr14:21081200-21083000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:21081200-21083000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:21081200-21083000	Active TSS	Fetal Kidney	kidney
24	chr14:21081200-21083000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:21081200-21083000	Active TSS	Rectal Smooth Muscle	rectum
26	chr14:21081200-21083000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr14:21081200-21083200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr14:21081200-21083200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:21081200-21083200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:21081200-21083200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:21081200-21083200	Active TSS	Aorta	Aorta
32	chr14:21081200-21083200	Active TSS	Brain Germinal Matrix	brain
33	chr14:21081200-21083200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:21081200-21083400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:21081200-21083400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr14:21081400-21082600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr14:21081400-21082800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:21081400-21082800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:21081400-21082800	Active TSS	A549	lung
40	chr14:21081400-21082800	Active TSS	Hela-S3	cervix
41	chr14:21081400-21083000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:21081400-21083000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:21081400-21083000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:21081400-21083000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:21081400-21083000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:21081400-21083000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:21081400-21083000	Active TSS	Brain Cingulate Gyrus	brain
48	chr14:21081400-21083000	Active TSS	Fetal Brain Female	brain
49	chr14:21081400-21083000	Active TSS	Ovary	ovary
50	chr14:21081400-21083000	Active TSS	HSMM	muscle

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