Variant report

Variant	rs59851270
Chromosome Location	chr14:104204612-104204613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104204003-104204641	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104204601-104204651	HNPCEpiC	eye:	n/a
2	chr14:104204601-104204651	Jurkat	blood:	n/a
3	chr14:104204601-104204651	NT2-D1	testis:	n/a
4	chr14:104204601-104204651	HIPEpiC	eye:	n/a
5	chr14:104204601-104204651	HRPEpiC	eye:	n/a
6	chr14:104204601-104204651	MCF-7	breast:	n/a
7	chr14:104204601-104204651	NB4	blood:	n/a
8	chr14:104204601-104204651	ProgFib	skin:	n/a
9	chr14:104204601-104204651	GM12891	blood:	n/a
10	chr14:104204601-104204651	PFSK-1	brain:	n/a
11	chr14:104204601-104204651	SKMC	muscle:	n/a
12	chr14:104204601-104204651	HEEpiC	esophagus:	n/a
13	chr14:104204601-104204651	SK-N-SH_RA	brain:	n/a
14	chr14:104204601-104204651	HRCEpiC	kidney:	n/a
15	chr14:104204601-104204651	HCM	heart:	n/a
16	chr14:104204601-104204651	CMK	blood:	n/a
17	chr14:104204601-104204651	NHBE	bronchial:	n/a
18	chr14:104204601-104204651	AG04449	skin:	fetal
19	chr14:104204601-104204651	HL-60	blood:	n/a
20	chr14:104204601-104204651	Caco-2	colon:	n/a
21	chr14:104204601-104204651	GM12878	blood:	n/a
22	chr14:104204601-104204651	PANC-1	pancreas:	n/a
23	chr14:104204601-104204651	HCF	heart:	n/a
24	chr14:104204601-104204651	SAEC	small airway:	n/a
25	chr14:104204601-104204651	BE2_C	brain:	n/a
26	chr14:104204601-104204651	HMEC	breast:	n/a
27	chr14:104204601-104204651	HAEpiC	amniotic membrane:	n/a
28	chr14:104204601-104204651	HUVEC	blood vessel:	n/a
29	chr14:104204601-104204651	Hepatocyte	liver:	n/a
30	chr14:104204601-104204651	RPTEC	kidney:	n/a
31	chr14:104204601-104204651	SK-N-SH	brain:	n/a
32	chr14:104204601-104204651	HCPEpiC	choroid plexus:	n/a
33	chr14:104204601-104204651	ovcar-3	ovarian:	n/a
34	chr14:104204601-104204651	HepG2	liver:	n/a
35	chr14:104204601-104204651	AG09309	skin:	n/a
36	chr14:104204601-104204651	GM12892	blood:	n/a
37	chr14:104204601-104204651	MCF10A-Er-Src	breast:	n/a
38	chr14:104204601-104204651	HPAEpiC	pulmonary alveolar:	n/a
39	chr14:104204601-104204651	PrEC	prostate:	n/a
40	chr14:104204601-104204651	ECC-1	luminal epithelium:	n/a
41	chr14:104204601-104204651	AG04450	lung:	fetal
42	chr14:104204601-104204651	T-47D	breast:	n/a
43	chr14:104204601-104204651	HRE	kidney:	n/a
44	chr14:104204601-104204651	AG10803	skin:	n/a
45	chr14:104204601-104204651	Hela-S3	cervix:	n/a
46	chr14:104204601-104204651	HEK293	kidney:	embryo
47	chr14:104204601-104204651	BJ	skin:	n/a
48	chr14:104204601-104204651	HCT-116	colon:	n/a
49	chr14:104204601-104204651	A549	lung:	n/a
50	chr14:104204601-104204651	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104196055..104198700-chr14:104202542..104204837,2	K562	blood:

No data

Variant related genes	Relation type
PPP1R13B	TF binding region
PPP1R13B	CpG island
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1078915	1.00[AMR][1000 genomes]
rs3212050	1.00[AMR][1000 genomes]
rs3212089	1.00[AMR][1000 genomes]
rs3212107	1.00[AMR][1000 genomes]
rs56074527	1.00[AMR][1000 genomes]
rs56178734	1.00[AMR][1000 genomes]
rs57361530	1.00[AMR][1000 genomes]
rs59026110	1.00[AMR][1000 genomes]
rs59653383	1.00[AMR][1000 genomes]
rs60050483	1.00[AMR][1000 genomes]
rs60707289	1.00[AMR][1000 genomes]
rs7147292	1.00[AMR][1000 genomes]
rs7149566	1.00[AMR][1000 genomes]
rs7158230	1.00[AMR][1000 genomes]
rs74085290	1.00[AMR][1000 genomes]
rs74086466	1.00[AMR][1000 genomes]
rs74086471	1.00[AMR][1000 genomes]
rs74086472	1.00[AMR][1000 genomes]
rs74086576	1.00[AMR][1000 genomes]
rs74088712	1.00[AMR][1000 genomes]
rs8004709	1.00[AMR][1000 genomes]
rs879724	1.00[AMR][1000 genomes]
rs909133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS 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	33 gene(s)	inside rSNPs	diseases
13	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
4	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
8	chr14:104194200-104205600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:104194200-104211400	Strong transcription	Colonic Mucosa	Colon
10	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr14:104194400-104208800	Strong transcription	Primary T cells from cord blood	blood
12	chr14:104194600-104206800	Strong transcription	Brain Germinal Matrix	brain
13	chr14:104194800-104209200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr14:104194800-104209200	Strong transcription	Fetal Intestine Small	intestine
15	chr14:104194800-104212000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr14:104195800-104215200	Weak transcription	HSMM	muscle
17	chr14:104196000-104214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
19	chr14:104196200-104207200	Weak transcription	Primary B cells from cord blood	blood
20	chr14:104196800-104206600	Strong transcription	Thymus	Thymus
21	chr14:104198000-104218800	Strong transcription	Gastric	stomach
22	chr14:104198200-104205200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:104198200-104209000	Strong transcription	Liver	Liver
24	chr14:104198200-104224800	Strong transcription	Left Ventricle	heart
25	chr14:104199400-104211800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:104199600-104209000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:104199800-104205200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:104200000-104220200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:104200200-104204800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:104200200-104209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:104200200-104214400	Weak transcription	Aorta	Aorta
32	chr14:104200200-104219600	Weak transcription	A549	lung
33	chr14:104200400-104207400	Weak transcription	NH-A	brain
34	chr14:104200400-104210400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:104200400-104212800	Weak transcription	Osteobl	bone
36	chr14:104200400-104231800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:104200600-104205000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:104200600-104207800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:104200600-104208800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:104200600-104209000	Strong transcription	NHEK	skin
41	chr14:104200600-104216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:104200800-104204800	Genic enhancers	Stomach Smooth Muscle	stomach
43	chr14:104200800-104206000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:104200800-104207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:104201000-104207400	Weak transcription	Fetal Thymus	thymus
46	chr14:104201000-104209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:104201000-104215800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:104201400-104214800	Weak transcription	GM12878-XiMat	blood
50	chr14:104201600-104204800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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