Variant report

Variant	rs12514228
Chromosome Location	chr5:111963983-111963984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:111963920-111964070	HAc	cerebellar:	n/a	n/a
2	KAP1	chr5:111963706-111964337	HEK293	kidney:	n/a	n/a
3	MAFK	chr5:111963978-111964610	H1-hESC	embryonic stem cell:	n/a	chr5:111964171-111964186
4	POLR2A	chr5:111963872-111964414	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr5:111963885-111964374	H1-neurons	neurons:	n/a	n/a
6	REST	chr5:111963636-111964627	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr5:111963960-111964110	HEEpiC	esophagus:	n/a	n/a
8	KAP1	chr5:111963981-111964377	U2OS	brain:	n/a	n/a
9	CTCF	chr5:111963860-111964010	MCF-7	breast:	n/a	chr5:111963912-111963920

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:111963982-111964032	AG10803	skin:	n/a
2	chr5:111963982-111964032	HRPEpiC	eye:	n/a
3	chr5:111963982-111964032	NT2-D1	testis:	n/a
4	chr5:111963982-111964032	AoSMC	blood vessel:	n/a
5	chr5:111963982-111964032	SK-N-SH_RA	brain:	n/a
6	chr5:111963982-111964032	GM12878	blood:	n/a
7	chr5:111963982-111964032	HIPEpiC	eye:	n/a
8	chr5:111963982-111964032	HCM	heart:	n/a
9	chr5:111963982-111964032	HMEC	breast:	n/a
10	chr5:111963982-111964032	PrEC	prostate:	n/a
11	chr5:111963982-111964032	ovcar-3	ovarian:	n/a
12	chr5:111963982-111964032	AG04449	skin:	fetal
13	chr5:111963982-111964032	HRE	kidney:	n/a
14	chr5:111963982-111964032	AG09309	skin:	n/a
15	chr5:111963982-111964032	ECC-1	luminal epithelium:	n/a
16	chr5:111963982-111964032	IMR90	lung:	fetal
17	chr5:111963982-111964032	GM12892	blood:	n/a
18	chr5:111963982-111964032	HepG2	liver:	n/a
19	chr5:111963982-111964032	LNCaP	prostate:	n/a
20	chr5:111963982-111964032	HCT-116	colon:	n/a
21	chr5:111963982-111964032	HNPCEpiC	eye:	n/a
22	chr5:111963982-111964032	Jurkat	blood:	n/a
23	chr5:111963982-111964032	SAEC	small airway:	n/a
24	chr5:111963982-111964032	NHBE	bronchial:	n/a
25	chr5:111963982-111964032	NB4	blood:	n/a
26	chr5:111963982-111964032	GM12891	blood:	n/a
27	chr5:111963982-111964032	SK-N-SH	brain:	n/a
28	chr5:111963982-111964032	K562	blood:	n/a
29	chr5:111963982-111964032	HRCEpiC	kidney:	n/a
30	chr5:111963982-111964032	HCF	heart:	n/a
31	chr5:111963982-111964032	Hepatocyte	liver:	n/a
32	chr5:111963982-111964032	HL-60	blood:	n/a
33	chr5:111963982-111964032	SKMC	muscle:	n/a
34	chr5:111963982-111964032	HEEpiC	esophagus:	n/a
35	chr5:111963982-111964032	RPTEC	kidney:	n/a
36	chr5:111963982-111964032	HCPEpiC	choroid plexus:	n/a
37	chr5:111963982-111964032	Hela-S3	cervix:	n/a
38	chr5:111963982-111964032	HEK293	kidney:	embryo
39	chr5:111963982-111964032	SK-N-MC	brain:	n/a
40	chr5:111963982-111964032	GM19239	blood:	n/a
41	chr5:111963982-111964032	AG04450	lung:	fetal
42	chr5:111963982-111964032	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:111963982-111964032	HUVEC	blood vessel:	n/a
44	chr5:111963982-111964032	BJ	skin:	n/a
45	chr5:111963982-111964032	MCF10A-Er-Src	breast:	n/a
46	chr5:111963982-111964032	BE2_C	brain:	n/a
47	chr5:111963982-111964032	NH-A	brain:	n/a
48	chr5:111963982-111964032	MCF-7	breast:	n/a
49	chr5:111963982-111964032	T-47D	breast:	n/a
50	chr5:111963982-111964032	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000250358	TF binding region
ENSG00000250358	CpG island

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

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

rs_ID	r²[population]
rs13156233	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4282306	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4365835	0.81[ASN][1000 genomes]
rs4705574	0.83[EUR][1000 genomes]
rs4705616	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56177104	0.80[ASN][1000 genomes]
rs7380495	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111959400-111964200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111959400-111967000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:111960200-111964000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:111961800-111964000	Weak transcription	Brain Anterior Caudate	brain
5	chr5:111962200-111964200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:111962400-111964000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:111963200-111964200	Enhancers	Fetal Intestine Large	intestine
8	chr5:111963200-111964800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:111963200-111965000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:111963400-111964000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:111963400-111964000	Enhancers	Brain Substantia Nigra	brain
12	chr5:111963400-111964200	Enhancers	Brain Angular Gyrus	brain
13	chr5:111963400-111964200	Enhancers	Fetal Brain Female	brain
14	chr5:111963400-111964200	Enhancers	Fetal Intestine Small	intestine
15	chr5:111963400-111964400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:111963400-111964400	Enhancers	Brain Hippocampus Middle	brain
17	chr5:111963400-111964600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:111963400-111964600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:111963400-111964800	Enhancers	Fetal Heart	heart
20	chr5:111963400-111965200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:111963600-111964400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:111963600-111964400	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:111963600-111964800	Enhancers	Rectal Smooth Muscle	rectum
24	chr5:111963800-111964000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:111963800-111964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:111963800-111964400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:111963800-111964400	Enhancers	Fetal Brain Male	brain
28	chr5:111963800-111964400	Enhancers	Fetal Lung	lung
29	chr5:111963800-111965000	Enhancers	Liver	Liver
30	chr5:111963800-111965200	Enhancers	Fetal Kidney	kidney
31	chr5:111963800-111966200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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