Variant report

Variant	rs12262734
Chromosome Location	chr10:91011159-91011160
allele	A/C
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	chr10:91011150-91011965	HEK293	kidney:	n/a	n/a
2	MAX	chr10:91010972-91012069	NB4	blood:	n/a	chr10:91011966-91011975
3	MYC	chr10:91011077-91011214	MCF-7	breast:	n/a	n/a
4	REST	chr10:91011083-91011304	GM12878	blood:	n/a	chr10:91011240-91011249 chr10:91011229-91011249
5	REST	chr10:91010938-91011915	U87	brain:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
6	CTCF	chr10:91011120-91011270	NHEK	skin:	n/a	n/a
7	REST	chr10:91011109-91011357	HepG2	liver:	n/a	chr10:91011240-91011249 chr10:91011229-91011249
8	MYC	chr10:91011063-91011274	MCF-7	breast:	n/a	n/a
9	WRNIP1	chr10:91010868-91011268	GM12878	blood:	n/a	n/a
10	MAX	chr10:91010965-91012068	H1-hESC	embryonic stem cell:	n/a	chr10:91011966-91011975
11	GABPA	chr10:91010915-91011929	MCF-7	breast:	n/a	chr10:91011811-91011822
12	MXI1	chr10:91010891-91012146	GM12878	blood:	n/a	n/a
13	MXI1	chr10:91010333-91012194	IMR90	lung:	n/a	n/a
14	MYC	chr10:91010959-91012066	NB4	blood:	n/a	chr10:91011966-91011975
15	MAZ	chr10:91011090-91011942	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:91010705-91011930	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:91010924-91012095	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:91011106-91011164	Hela-S3	cervix:	n/a	n/a
19	REST	chr10:91011035-91011554	Hela-S3	cervix:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011229-91011249 chr10:91011460-91011473
20	REST	chr10:91011066-91011642	PANC-1	pancreas:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
21	REST	chr10:91010973-91011634	A549	lung:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
22	MAX	chr10:91010931-91012129	HepG2	liver:	n/a	chr10:91011966-91011975
23	TCF7L2	chr10:91010818-91011686	PANC-1	pancreas:	n/a	n/a
24	TAF1	chr10:91011157-91012039	ECC-1	luminal epithelium:	n/a	n/a
25	REST	chr10:91011090-91011359	H1-hESC	embryonic stem cell:	n/a	chr10:91011240-91011249 chr10:91011229-91011249
26	MAX	chr10:91010985-91012046	GM12878	blood:	n/a	chr10:91011966-91011975
27	POLR2A	chr10:91011137-91011883	MCF-7	breast:	n/a	n/a
28	SIN3A	chr10:91010969-91011953	H1-hESC	embryonic stem cell:	n/a	chr10:91011493-91011502
29	TCF12	chr10:91010937-91012009	ECC-1	luminal epithelium:	n/a	chr10:91011170-91011180 chr10:91011458-91011465
30	USF2	chr10:91011142-91011300	Hela-S3	cervix:	n/a	n/a
31	MTA3	chr10:91010852-91012030	GM12878	blood:	n/a	n/a
32	ELF1	chr10:91011066-91011943	GM12878	blood:	n/a	chr10:91011652-91011663
33	SIN3AK20	chr10:91011086-91011962	PANC-1	pancreas:	n/a	n/a
34	REST	chr10:91011001-91011883	HepG2	liver:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
35	REST	chr10:91011023-91011411	SK-N-SH	brain:	n/a	chr10:91011240-91011249 chr10:91011229-91011249
36	MAZ	chr10:91010895-91012003	IMR90	lung:	n/a	chr10:91011966-91011975
37	NFIC	chr10:91011143-91011840	ECC-1	luminal epithelium:	n/a	n/a
38	REST	chr10:91010987-91011579	PFSK-1	brain:	n/a	chr10:91011548-91011558 chr10:91011460-91011473 chr10:91011240-91011249 chr10:91011496-91011505 chr10:91011229-91011249
39	REST	chr10:91010654-91012051	H1-neurons	neurons:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
40	MXI1	chr10:91011003-91011206	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr10:91010950-91012125	MCF-7	breast:	n/a	chr10:91011966-91011975
42	POLR2A	chr10:91011135-91012004	Raji	blood:	n/a	n/a
43	POLR2A	chr10:91011053-91012004	GM12892	blood:	n/a	n/a
44	MAX	chr10:91010905-91012230	HCT-116	colon:	n/a	chr10:91011966-91011975
45	REST	chr10:91010887-91011604	A549	lung:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
46	MAX	chr10:91010931-91012117	H1-hESC	embryonic stem cell:	n/a	chr10:91011966-91011975
47	MYC	chr10:91011139-91011217	MCF-7	breast:	n/a	n/a
48	POLR2A	chr10:91011078-91011858	MCF-7	breast:	n/a	n/a
49	REST	chr10:91011001-91011874	PANC-1	pancreas:	n/a	chr10:91011496-91011505 chr10:91011240-91011249 chr10:91011548-91011558 chr10:91011229-91011249 chr10:91011460-91011473
50	TEAD4	chr10:91011002-91011260	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91009631..91012227-chr10:91174311..91176643,2	MCF-7	breast:
2	chr10:90610616..90613278-chr10:91010263..91012632,2	MCF-7	breast:
3	chr10:91004556..91008070-chr10:91009861..91011850,3	MCF-7	breast:

Variant related genes	Relation type
LIPA	TF binding region
ENSG00000152766	Chromatin interaction
ENSG00000107798	Chromatin interaction
ENSG00000152778	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11203046	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11203047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11203051	1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12240489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12258120	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12358054	1.00[JPT][hapmap]
rs17117789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7074555	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv895882	chr10:91002927-91021645	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91009400-91012000	Active TSS	Fetal Intestine Large	intestine
2	chr10:91009800-91012000	Active TSS	GM12878-XiMat	blood
3	chr10:91010200-91011200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr10:91010200-91011200	Flanking Active TSS	Brain Substantia Nigra	brain
5	chr10:91010200-91011400	Flanking Active TSS	Liver	Liver
6	chr10:91010200-91011400	Flanking Active TSS	Dnd41	blood
7	chr10:91010200-91011600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:91010200-91011800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr10:91010200-91012000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:91010200-91012000	Active TSS	Right Atrium	heart
11	chr10:91010200-91012400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr10:91010400-91011200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:91010400-91011200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:91010400-91011200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr10:91010400-91011400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr10:91010400-91011400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr10:91010400-91011600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr10:91010400-91011600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:91010400-91011800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr10:91010400-91012000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:91010400-91012000	Active TSS	NHDF-Ad	bronchial
22	chr10:91010600-91011200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:91010600-91011200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr10:91010600-91011200	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr10:91010600-91011200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr10:91010600-91011200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr10:91010600-91011200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:91010600-91011200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:91010600-91011200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr10:91010600-91011200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr10:91010600-91011200	Flanking Active TSS	Fetal Brain Female	brain
32	chr10:91010600-91011200	Flanking Active TSS	Fetal Heart	heart
33	chr10:91010600-91011200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr10:91010600-91011200	Flanking Active TSS	Hela-S3	cervix
35	chr10:91010600-91011200	Flanking Active TSS	Osteobl	bone
36	chr10:91010600-91011400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr10:91010600-91011400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr10:91010600-91011400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr10:91010600-91011400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:91010600-91011400	Flanking Active TSS	Placenta	Placenta
41	chr10:91010600-91011400	Flanking Active TSS	Fetal Thymus	thymus
42	chr10:91010600-91011400	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr10:91010600-91011400	Flanking Active TSS	NH-A	brain
44	chr10:91010600-91011600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr10:91010600-91012000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:91010600-91012000	Active TSS	Brain Anterior Caudate	brain
47	chr10:91010600-91012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:91010600-91012000	Active TSS	Colonic Mucosa	Colon
49	chr10:91010800-91011200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr10:91010800-91011200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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