Variant report

Variant	rs2607903
Chromosome Location	chr12:10876573-10876574
allele	G/T
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	chr12:10872946-10877224	IMR90	lung:	n/a	n/a
2	SPI1	chr12:10876422-10876847	HL-60	blood:	n/a	n/a
3	BRCA1	chr12:10875862-10876785	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:10874371-10876620	K562	blood:	n/a	n/a
5	MXI1	chr12:10875834-10876669	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:10875700-10876642	K562	blood:	n/a	n/a
7	HEY1	chr12:10874297-10876715	K562	blood:	n/a	chr12:10875387-10875402 chr12:10875825-10875840 chr12:10875834-10875849 chr12:10875857-10875872 chr12:10875956-10875971
8	CHD1	chr12:10868107-10877330	IMR90	lung:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
9	POLR2A	chr12:10869253-10877276	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:10874264-10876931	Hela-S3	cervix:	n/a	n/a
11	SIN3A	chr12:10874063-10876652	H1-hESC	embryonic stem cell:	n/a	chr12:10876111-10876125 chr12:10876537-10876545 chr12:10876116-10876126
12	BHLHE40	chr12:10876309-10876675	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:10869210-10877464	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr12:10875769-10876625	Hela-S3	cervix:	n/a	n/a
15	TBP	chr12:10875735-10876673	K562	blood:	n/a	n/a
16	POLR2A	chr12:10874323-10876800	Raji	blood:	n/a	n/a
17	MXI1	chr12:10874227-10876688	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
2	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:
3	chr12:10873685..10876806-chr12:10901229..10904377,4	K562	blood:
4	chr12:10860643..10864098-chr12:10874178..10877210,3	MCF-7	breast:
5	chr12:10876078..10877207-chr12:10902879..10903524,3	K562	blood:
6	chr12:10859983..10863988-chr12:10873380..10877073,5	MCF-7	breast:
7	chr12:10872352..10877950-chr12:10900438..10904327,7	K562	blood:

Variant related genes	Relation type
YBX3	TF binding region
ENSG00000111196	Chromatin interaction
ENSG00000060138	Chromatin interaction
ENSG00000256888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1042085	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11053918	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11053919	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11835398	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73046505	0.85[AMR][1000 genomes];0.84[EUR][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	esv3423079	chr12:10874310-10876858	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3330935	chr12:10874685-10877183	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3356340	chr12:10874710-10877258	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10870400-10877000	Active TSS	Psoas Muscle	Psoas
2	chr12:10871400-10877000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:10872400-10876800	Active TSS	Right Ventricle	heart
4	chr12:10872400-10877000	Active TSS	Right Atrium	heart
5	chr12:10873000-10876600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:10873000-10876600	Active TSS	HSMMtube	muscle
7	chr12:10873000-10876800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:10873000-10876800	Active TSS	Aorta	Aorta
9	chr12:10873200-10876600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr12:10873200-10877000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:10873600-10876600	Active TSS	Left Ventricle	heart
12	chr12:10873600-10876600	Active TSS	Lung	lung
13	chr12:10873600-10876800	Active TSS	Fetal Muscle Trunk	muscle
14	chr12:10873800-10876600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:10873800-10876600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:10873800-10876600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:10873800-10876600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:10873800-10876600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:10873800-10876600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:10873800-10876600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:10873800-10876600	Active TSS	Brain Substantia Nigra	brain
22	chr12:10873800-10876600	Active TSS	Fetal Muscle Leg	muscle
23	chr12:10873800-10876600	Active TSS	Ovary	ovary
24	chr12:10873800-10876600	Active TSS	NHDF-Ad	bronchial
25	chr12:10873800-10876800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr12:10873800-10876800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:10873800-10876800	Active TSS	Colonic Mucosa	Colon
28	chr12:10873800-10877000	Active TSS	Esophagus	oesophagus
29	chr12:10873800-10877000	Active TSS	Pancreas	Pancrea
30	chr12:10873800-10877000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:10874000-10876600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:10874000-10876600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:10874000-10876600	Active TSS	Colon Smooth Muscle	Colon
34	chr12:10874000-10876600	Active TSS	Fetal Intestine Large	intestine
35	chr12:10874000-10876600	Active TSS	GM12878-XiMat	blood
36	chr12:10874000-10876600	Active TSS	HMEC	breast
37	chr12:10874000-10876600	Active TSS	K562	blood
38	chr12:10874000-10876600	Active TSS	NHEK	skin
39	chr12:10874000-10877000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr12:10874200-10876600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:10874200-10876600	Active TSS	Fetal Intestine Small	intestine
42	chr12:10874200-10876600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr12:10874200-10876800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:10874400-10876600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:10874400-10876600	Active TSS	Fetal Kidney	kidney
46	chr12:10874400-10876600	Active TSS	Small Intestine	intestine
47	chr12:10874600-10876600	Active TSS	Hela-S3	cervix
48	chr12:10875000-10876600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:10875200-10876600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:10875200-10876600	Active TSS	Rectal Mucosa Donor 31	rectum

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