Variant report

Variant	rs11588734
Chromosome Location	chr1:10532981-10532982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10532293-10532989	HepG2	liver:	n/a	n/a
2	ZBTB33	chr1:10532322-10533036	A549	lung:	n/a	n/a
3	SPI1	chr1:10532952-10533147	K562	blood:	n/a	n/a
4	ZBTB33	chr1:10532236-10533032	SK-N-SH	brain:	n/a	n/a
5	MAX	chr1:10532218-10533023	A549	lung:	n/a	n/a
6	POLR2A	chr1:10532190-10533000	SK-N-SH	brain:	n/a	n/a
7	USF1	chr1:10532251-10533100	HCT-116	colon:	n/a	chr1:10532680-10532691
8	TBP	chr1:10531760-10533473	K562	blood:	n/a	n/a
9	PML	chr1:10532204-10533092	K562	blood:	n/a	n/a
10	MAX	chr1:10532210-10533110	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:10531845-10533057	K562	blood:	n/a	n/a
12	POLR2A	chr1:10532073-10533485	GM12878	blood:	n/a	n/a
13	ZBTB33	chr1:10532183-10533122	SK-N-SH	brain:	n/a	n/a
14	ZC3H11A	chr1:10532287-10533023	K562	blood:	n/a	n/a
15	MAX	chr1:10531833-10532997	K562	blood:	n/a	n/a
16	POLR2A	chr1:10531653-10532981	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr1:10531881-10533035	HepG2	liver:	n/a	n/a
18	MYC	chr1:10531824-10533013	K562	blood:	n/a	n/a
19	GTF2F1	chr1:10532401-10532984	K562	blood:	n/a	n/a
20	SPI1	chr1:10532393-10533199	HL-60	blood:	n/a	n/a
21	MAX	chr1:10532140-10533063	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:10531843-10533584	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:10532285-10533188	K562	blood:	n/a	n/a
24	POLR2A	chr1:10531803-10533125	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:10531884-10533592	GM15510	blood:	n/a	n/a
26	ELK1	chr1:10531874-10533039	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:10531969-10533072	K562	blood:	n/a	n/a
28	BHLHE40	chr1:10531758-10533089	K562	blood:	n/a	n/a
29	E2F6	chr1:10532052-10532992	A549	lung:	n/a	n/a
30	MTA3	chr1:10531712-10533178	GM12878	blood:	n/a	n/a
31	MYBL2	chr1:10532388-10532988	HepG2	liver:	n/a	n/a
32	SPI1	chr1:10532868-10533159	GM12891	blood:	n/a	n/a
33	MAX	chr1:10531682-10533095	K562	blood:	n/a	n/a
34	E2F4	chr1:10532526-10532985	GM12878	blood:	n/a	n/a
35	BHLHE40	chr1:10532463-10532981	A549	lung:	n/a	n/a
36	TEAD4	chr1:10532042-10533149	K562	blood:	n/a	n/a
37	MXI1	chr1:10531235-10533216	IMR90	lung:	n/a	n/a
38	MYC	chr1:10531767-10532990	K562	blood:	n/a	n/a
39	USF1	chr1:10532366-10533001	A549	lung:	n/a	chr1:10532680-10532691
40	POLR2A	chr1:10532082-10533539	GM12891	blood:	n/a	n/a
41	MAX	chr1:10532003-10533072	ECC-1	luminal epithelium:	n/a	n/a
42	TBL1XR1	chr1:10532262-10533251	K562	blood:	n/a	n/a
43	POLR2A	chr1:10531941-10533032	Hela-S3	cervix:	n/a	n/a
44	TBL1XR1	chr1:10532221-10533042	GM12878	blood:	n/a	n/a
45	RCOR1	chr1:10531619-10533084	K562	blood:	n/a	n/a
46	IRF1	chr1:10531723-10533377	K562	blood:	n/a	n/a
47	BRCA1	chr1:10532363-10533031	H1-hESC	embryonic stem cell:	n/a	n/a
48	GABPA	chr1:10532111-10533060	HL-60	blood:	n/a	n/a
49	ATF2	chr1:10532306-10533003	GM12878	blood:	n/a	n/a
50	MAX	chr1:10532294-10532987	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
2	chr1:10457403..10461622-chr1:10531171..10536559,7	K562	blood:
3	chr1:10517930..10519443-chr1:10532494..10534240,2	K562	blood:
4	chr1:10489993..10493018-chr1:10531254..10535234,5	MCF-7	breast:
5	chr1:10457604..10459438-chr1:10532689..10534375,2	K562	blood:
6	chr1:10490607..10494447-chr1:10532445..10535163,5	K562	blood:
7	chr1:10488008..10492443-chr1:10531123..10534892,8	K562	blood:
8	chr1:10494601..10496370-chr1:10532163..10533964,2	K562	blood:

No data

Variant related genes	Relation type
PEX14	TF binding region
DFFA	TF binding region
ENSG00000142655	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000203469	Chromatin interaction
ENSG00000251503	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11121582	0.93[CEU][hapmap]
rs11121583	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs11585463	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[MEX][hapmap]
rs11587326	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[MEX][hapmap]
rs12083820	0.87[CEU][hapmap]
rs12738718	1.00[CEU][hapmap]
rs1411401	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs17412703	1.00[MEX][hapmap]
rs7552996	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:10531200-10533000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:10531200-10533200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:10531400-10533000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:10531400-10533000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:10531400-10533000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:10531400-10533000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:10531400-10533000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:10531400-10533200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:10531400-10533200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:10531400-10533200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:10531400-10533400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:10531600-10533000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:10531600-10533000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:10531600-10533000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:10531600-10533200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:10531600-10533200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:10531600-10533200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:10531600-10533200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:10531800-10533000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:10531800-10533000	Active TSS	Gastric	stomach
21	chr1:10531800-10533000	Active TSS	Small Intestine	intestine
22	chr1:10531800-10533000	Active TSS	HSMM	muscle
23	chr1:10531800-10533000	Active TSS	HSMMtube	muscle
24	chr1:10531800-10533200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:10531800-10533200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:10531800-10533200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:10531800-10533200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:10531800-10533200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:10531800-10533200	Active TSS	Fetal Intestine Large	intestine
30	chr1:10531800-10533200	Active TSS	Right Atrium	heart
31	chr1:10531800-10533200	Active TSS	HepG2	liver
32	chr1:10531800-10533200	Active TSS	NHDF-Ad	bronchial
33	chr1:10532000-10533000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:10532000-10533000	Active TSS	Aorta	Aorta
35	chr1:10532000-10533000	Active TSS	Brain Hippocampus Middle	brain
36	chr1:10532000-10533000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:10532000-10533000	Active TSS	Esophagus	oesophagus
38	chr1:10532000-10533000	Active TSS	Fetal Brain Female	brain
39	chr1:10532000-10533000	Active TSS	Ovary	ovary
40	chr1:10532000-10533000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:10532000-10533000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:10532000-10533000	Active TSS	Stomach Smooth Muscle	stomach
43	chr1:10532000-10533200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:10532000-10533200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr1:10532000-10533200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:10532000-10533200	Active TSS	Brain Angular Gyrus	brain
47	chr1:10532000-10533200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:10532000-10533200	Active TSS	Fetal Lung	lung
49	chr1:10532000-10534200	Active TSS	GM12878-XiMat	blood
50	chr1:10532200-10533000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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