Variant report

Variant	rs10131235
Chromosome Location	chr14:56266540-56266541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr14:56266177-56266726	K562	blood:	n/a	n/a
2	STAT5A	chr14:56266181-56266637	K562	blood:	n/a	n/a
3	TAL1	chr14:56266144-56266702	K562	blood:	n/a	chr14:56266389-56266397 chr14:56266152-56266160
4	ARID3A	chr14:56266440-56266575	K562	blood:	n/a	n/a
5	CEBPD	chr14:56266172-56266705	K562	blood:	n/a	n/a
6	EP300	chr14:56266294-56266743	K562	blood:	n/a	n/a
7	CEBPD	chr14:56266275-56266608	K562	blood:	n/a	n/a
8	TBL1XR1	chr14:56266241-56266618	K562	blood:	n/a	n/a
9	TEAD4	chr14:56266210-56266691	K562	blood:	n/a	n/a
10	GATA1	chr14:56266073-56266934	PBDE	blood:	n/a	n/a
11	JUND	chr14:56266353-56266587	K562	blood:	n/a	n/a
12	RCOR1	chr14:56266140-56266633	K562	blood:	n/a	n/a
13	EP300	chr14:56266361-56266541	K562	blood:	n/a	n/a
14	ZBTB7A	chr14:56266527-56266650	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
2	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:
3	chr14:56266295..56268885-chr14:56682625..56685589,2	K562	blood:
4	chr14:56266308..56267973-chr14:56270310..56271812,2	MCF-7	breast:
5	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:

No data

Variant related genes	Relation type
LINC00520	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10130136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140629	0.89[ASN][1000 genomes]
rs10142391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144024	0.89[ASN][1000 genomes]
rs10145894	0.89[ASN][1000 genomes]
rs10147997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520487	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28540836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153419	1.00[EUR][1000 genomes]
rs7154894	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56257600-56271600	Weak transcription	Gastric	stomach
2	chr14:56261800-56267400	Weak transcription	NHEK	skin
3	chr14:56262000-56269600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:56262200-56267600	Weak transcription	HMEC	breast
5	chr14:56262200-56269800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:56262600-56269600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:56263000-56267000	Weak transcription	Hela-S3	cervix
8	chr14:56263600-56266800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:56263600-56268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:56263800-56267200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr14:56263800-56267800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:56263800-56267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:56264000-56267000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:56264000-56267800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:56264000-56267800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:56264400-56266800	Enhancers	Fetal Intestine Small	intestine
17	chr14:56264600-56266800	Enhancers	Stomach Mucosa	stomach
18	chr14:56264800-56266600	Enhancers	Fetal Intestine Large	intestine
19	chr14:56265000-56267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:56265200-56267800	Enhancers	K562	blood
21	chr14:56265400-56267200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:56265600-56267800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr14:56265600-56269600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:56266200-56267000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:56266200-56267200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:56266200-56267200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:56266200-56268000	Enhancers	HUVEC	blood vessel
28	chr14:56266400-56267200	Weak transcription	H1 Cell Line	embryonic stem cell

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