Variant report

Variant	rs28542564
Chromosome Location	chr14:31028317-31028318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:31028032-31028634	K562	blood:	n/a	n/a
2	ELK1	chr14:31027952-31028802	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr14:31027692-31029300	MCF-7	breast:	n/a	n/a
4	IRF1	chr14:31027964-31028532	K562	blood:	n/a	chr14:31028316-31028330
5	HNF4G	chr14:31028042-31028736	HepG2	liver:	n/a	n/a
6	FOXM1	chr14:31028192-31028724	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr14:31028172-31028833	HL-60	blood:	n/a	chr14:31028225-31028245
8	BRCA1	chr14:31028288-31028484	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:31027747-31028801	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr14:31027827-31028550	HepG2	liver:	n/a	chr14:31028317-31028327
11	CTCF	chr14:31028200-31028350	HUVEC	blood vessel:	n/a	n/a
12	GABPA	chr14:31028112-31028630	K562	blood:	n/a	chr14:31028425-31028434 chr14:31028146-31028155
13	POLR2A	chr14:31027969-31028692	GM12891	blood:	n/a	n/a
14	MAX	chr14:31027344-31029313	HepG2	liver:	n/a	chr14:31028317-31028327
15	POLR2A	chr14:31028048-31028671	K562	blood:	n/a	n/a
16	POLR2A	chr14:31028011-31028628	HL-60	blood:	n/a	n/a
17	TAF1	chr14:31028127-31028597	K562	blood:	n/a	n/a
18	YY1	chr14:31028088-31028775	GM12892	blood:	n/a	chr14:31028089-31028105 chr14:31028320-31028334
19	POLR2A	chr14:31027838-31028626	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT5A	chr14:31028121-31028711	GM12878	blood:	n/a	n/a
21	GABPA	chr14:31028052-31028756	A549	lung:	n/a	chr14:31028425-31028434 chr14:31028146-31028155
22	POLR2A	chr14:31028036-31028560	U87	brain:	n/a	n/a
23	POLR2A	chr14:31028008-31028745	HL-60	blood:	n/a	n/a
24	EP300	chr14:31028062-31028519	K562	blood:	n/a	chr14:31028195-31028205
25	POU2F2	chr14:31028104-31028612	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:31027858-31028717	U87	brain:	n/a	n/a
27	SIN3AK20	chr14:31028282-31028547	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr14:31028029-31029305	H1-neurons	neurons:	n/a	n/a
29	FOXA2	chr14:31027237-31029504	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:31028002-31028558	K562	blood:	n/a	n/a
31	CREB1	chr14:31028071-31028765	A549	lung:	n/a	n/a
32	ZNF384	chr14:31027940-31028447	K562	blood:	n/a	n/a
33	SIN3AK20	chr14:31028154-31028751	K562	blood:	n/a	n/a
34	MAFF	chr14:31027999-31028667	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:31027912-31029258	HepG2	liver:	n/a	n/a
36	REST	chr14:31027874-31029484	H1-neurons	neurons:	n/a	chr14:31028225-31028245
37	GTF2F1	chr14:31028100-31028489	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr14:31027900-31029130	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr14:31027835-31028538	HepG2	liver:	n/a	n/a
40	POU2F2	chr14:31028156-31028773	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:31028062-31028655	GM12891	blood:	n/a	n/a
42	CEBPB	chr14:31028100-31028431	HepG2	liver:	n/a	n/a
43	E2F6	chr14:31027937-31028744	K562	blood:	n/a	chr14:31028259-31028270
44	TAF1	chr14:31028103-31028646	GM12878	blood:	n/a	n/a
45	CHD2	chr14:31027995-31028572	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr14:31027911-31028460	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:31027913-31028608	PFSK-1	brain:	n/a	n/a
48	MAX	chr14:31027965-31028779	HCT-116	colon:	n/a	chr14:31028317-31028327
49	TAF1	chr14:31028022-31028825	H1-neurons	neurons:	n/a	n/a
50	TAF1	chr14:31028084-31028870	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31027839..31028656-chr16:2479234..2479861,2	HCT-116	colon:
2	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:
3	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
4	chr13:113344341..113345170-chr14:31028074..31028719,2	Hela-S3	cervix:
5	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:

Variant related genes	Relation type
G2E3	TF binding region
ENSG00000092108	Chromatin interaction
ENSG00000068650	Chromatin interaction
ENSG00000162063	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10130242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138967	1.00[AMR][1000 genomes]
rs10144613	1.00[AMR][1000 genomes]
rs10146048	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13379418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31027400-31029000	Active TSS	Rectal Smooth Muscle	rectum
2	chr14:31027400-31029400	Active TSS	Esophagus	oesophagus
3	chr14:31027400-31029800	Active TSS	NHDF-Ad	bronchial
4	chr14:31027600-31028400	Flanking Active TSS	Dnd41	blood
5	chr14:31027600-31029000	Active TSS	Brain Cingulate Gyrus	brain
6	chr14:31027600-31029000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:31027600-31029000	Active TSS	Stomach Mucosa	stomach
8	chr14:31027600-31029200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:31027600-31029200	Active TSS	Aorta	Aorta
10	chr14:31027600-31029200	Active TSS	Brain Anterior Caudate	brain
11	chr14:31027600-31029200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr14:31027600-31029200	Active TSS	Fetal Intestine Small	intestine
13	chr14:31027600-31029200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:31027600-31029400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:31027600-31029400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:31027600-31029400	Active TSS	Colonic Mucosa	Colon
17	chr14:31027600-31029400	Active TSS	Fetal Intestine Large	intestine
18	chr14:31027600-31029400	Active TSS	Ovary	ovary
19	chr14:31027600-31029400	Active TSS	Psoas Muscle	Psoas
20	chr14:31027600-31029400	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr14:31027600-31029400	Active TSS	Stomach Smooth Muscle	stomach
22	chr14:31027600-31029600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:31027600-31029600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:31027600-31029600	Active TSS	Fetal Kidney	kidney
25	chr14:31027600-31029800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:31027600-31029800	Active TSS	Fetal Muscle Trunk	muscle
27	chr14:31027600-31029800	Active TSS	Fetal Muscle Leg	muscle
28	chr14:31027600-31029800	Active TSS	Fetal Stomach	stomach
29	chr14:31027600-31030000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:31027600-31030000	Active TSS	Fetal Brain Male	brain
31	chr14:31027600-31030000	Active TSS	Fetal Brain Female	brain
32	chr14:31027600-31030000	Active TSS	Right Atrium	heart
33	chr14:31027600-31030000	Active TSS	NHLF	lung
34	chr14:31027600-31030200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr14:31027600-31030600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:31027600-31031000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:31027800-31028400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:31027800-31029000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:31027800-31029200	Active TSS	Placenta	Placenta
40	chr14:31027800-31029200	Active TSS	Lung	lung
41	chr14:31027800-31029200	Active TSS	Pancreas	Pancrea
42	chr14:31027800-31029200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr14:31027800-31029200	Bivalent/Poised TSS	HepG2	liver
44	chr14:31027800-31029400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:31027800-31029400	Active TSS	Brain Angular Gyrus	brain
46	chr14:31027800-31029400	Active TSS	Gastric	stomach
47	chr14:31027800-31029400	Active TSS	Left Ventricle	heart
48	chr14:31027800-31029400	Active TSS	Right Ventricle	heart
49	chr14:31027800-31029400	Active TSS	Small Intestine	intestine
50	chr14:31027800-31029600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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