Variant report

Variant	rs62246635
Chromosome Location	chr3:42847299-42847300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr3:42846771-42847342	HepG2	liver:	n/a	n/a
2	FOSL2	chr3:42846806-42847335	HepG2	liver:	n/a	n/a
3	FOXA1	chr3:42846888-42847396	HepG2	liver:	n/a	n/a
4	MAX	chr3:42846696-42847383	K562	blood:	n/a	n/a
5	MBD4	chr3:42846631-42847335	HepG2	liver:	n/a	n/a
6	NR2F2	chr3:42846731-42847420	MCF-7	breast:	n/a	n/a
7	POLR2A	chr3:42844632-42847336	HepG2	liver:	n/a	n/a
8	NR2F2	chr3:42846766-42847418	HepG2	liver:	n/a	n/a
9	MYBL2	chr3:42845708-42847512	HepG2	liver:	n/a	n/a
10	FOXA1	chr3:42846852-42847321	HepG2	liver:	n/a	n/a
11	FOXA1	chr3:42846759-42847400	HepG2	liver:	n/a	n/a
12	FOXA1	chr3:42846902-42847299	HepG2	liver:	n/a	n/a
13	MAZ	chr3:42844653-42847434	IMR90	lung:	n/a	n/a
14	SP1	chr3:42846902-42847339	HepG2	liver:	n/a	n/a
15	JUND	chr3:42846926-42847308	HepG2	liver:	n/a	n/a
16	EP300	chr3:42846835-42847362	HepG2	liver:	n/a	n/a
17	MAX	chr3:42846656-42847503	HepG2	liver:	n/a	n/a
18	FOSL2	chr3:42846731-42847351	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:42844156-42847316	HepG2	liver:	n/a	n/a
20	ARID3A	chr3:42846646-42847315	HepG2	liver:	n/a	n/a
21	TEAD4	chr3:42846542-42847356	HepG2	liver:	n/a	n/a
22	HDAC2	chr3:42846863-42847339	HepG2	liver:	n/a	n/a
23	MXI1	chr3:42844306-42847361	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:42845805..42849029-chr3:42849573..42852164,3	K562	blood:
2	chr3:42824890..42826427-chr3:42846368..42849039,2	K562	blood:
3	chr3:42846757..42848695-chr3:42854131..42856830,2	K562	blood:
4	chr3:42530826..42532849-chr3:42845908..42847611,2	MCF-7	breast:
5	chr3:42842350..42845554-chr3:42847131..42848922,4	K562	blood:
6	chr3:42812718..42815694-chr3:42844363..42847706,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273291	TF binding region
HIGD1A	TF binding region
KRBOX1	TF binding region
ENSG00000273328	TF binding region
ACKR2	TF binding region
ENSG00000244607	Chromatin interaction
ENSG00000144648	Chromatin interaction
ENSG00000273328	Chromatin interaction
ENSG00000273291	Chromatin interaction
ENSG00000114812	Chromatin interaction
ENSG00000240747	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10461012	0.82[EUR][1000 genomes]
rs10865920	0.85[EUR][1000 genomes]
rs10865921	0.85[EUR][1000 genomes]
rs10865923	0.90[EUR][1000 genomes]
rs11129969	0.87[EUR][1000 genomes]
rs11129970	0.87[EUR][1000 genomes]
rs11709054	0.88[EUR][1000 genomes]
rs11709500	0.89[EUR][1000 genomes]
rs11713172	0.87[EUR][1000 genomes]
rs11915803	0.92[EUR][1000 genomes]
rs17074778	0.85[EUR][1000 genomes]
rs17238314	0.87[EUR][1000 genomes]
rs17238798	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2240861	0.85[EUR][1000 genomes]
rs34110933	0.90[EUR][1000 genomes]
rs4682856	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682857	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683336	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55641040	0.85[ASN][1000 genomes]
rs55884426	0.86[EUR][1000 genomes]
rs55904344	0.89[EUR][1000 genomes]
rs58045017	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59478814	0.86[EUR][1000 genomes]
rs59713146	0.87[EUR][1000 genomes]
rs60049195	0.85[EUR][1000 genomes]
rs62246603	0.89[EUR][1000 genomes]
rs62246606	0.88[EUR][1000 genomes]
rs62246629	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62246636	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62250113	0.85[EUR][1000 genomes]
rs62250114	0.85[EUR][1000 genomes]
rs6442057	0.90[EUR][1000 genomes]
rs6764909	0.83[ASN][1000 genomes]
rs7634876	0.86[ASN][1000 genomes]
rs9836162	0.83[EUR][1000 genomes]
rs9880635	0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62246635	CCBP2,LOC729085	cis	brain	BrainEAC

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42846400-42847400	Flanking Active TSS	K562	blood
2	chr3:42846800-42847400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr3:42846800-42847400	Enhancers	Fetal Heart	heart
4	chr3:42846800-42856400	Weak transcription	Right Atrium	heart
5	chr3:42847000-42847400	Enhancers	Right Ventricle	heart
6	chr3:42847000-42848600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:42847000-42851000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:42847000-42852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:42847000-42852400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:42847200-42847400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:42847200-42847400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:42847200-42847400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr3:42847200-42847400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:42847200-42847400	Flanking Active TSS	Liver	Liver
15	chr3:42847200-42847400	Active TSS	Colonic Mucosa	Colon
16	chr3:42847200-42847400	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr3:42847200-42847400	Enhancers	Stomach Mucosa	stomach
18	chr3:42847200-42847800	Enhancers	HepG2	liver
19	chr3:42847200-42848000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:42847200-42849400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:42847200-42850000	Weak transcription	Placenta	Placenta
22	chr3:42847200-42850200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:42847200-42852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:42847200-42852200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:42847200-42852200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr3:42847200-42852400	Weak transcription	Pancreas	Pancrea
27	chr3:42847200-42856400	Weak transcription	NHEK	skin

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