Variant report

Variant	rs11048444
Chromosome Location	chr12:26425021-26425022
allele	C/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	RAD21	chr12:26424727-26425127	IMR90	lung:	n/a	n/a
2	CUX1	chr12:26424647-26425121	GM12878	blood:	n/a	n/a
3	MAX	chr12:26424533-26425532	A549	lung:	n/a	n/a
4	NFIC	chr12:26424613-26425318	ECC-1	luminal epithelium:	n/a	chr12:26424690-26424718
5	ATF2	chr12:26424611-26425244	GM12878	blood:	n/a	n/a
6	RELA	chr12:26424519-26425485	GM12891	blood:	n/a	n/a
7	STAT3	chr12:26424809-26425135	MCF10A-Er-Src	breast:	n/a	n/a
8	NFIC	chr12:26424501-26425300	GM12878	blood:	n/a	chr12:26424690-26424718
9	RUNX3	chr12:26424877-26425271	GM12878	blood:	n/a	n/a
10	TCF12	chr12:26424851-26425320	GM12878	blood:	n/a	chr12:26425237-26425244
11	EP300	chr12:26424726-26425233	GM12878	blood:	n/a	n/a
12	USF2	chr12:26424957-26425189	GM12878	blood:	n/a	n/a
13	MYC	chr12:26424989-26425040	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr12:26424847-26425135	MCF10A-Er-Src	breast:	n/a	n/a
15	SMC3	chr12:26424901-26425134	GM12878	blood:	n/a	n/a
16	STAT3	chr12:26424969-26425051	MCF10A-Er-Src	breast:	n/a	n/a
17	ATF2	chr12:26424748-26425166	GM12878	blood:	n/a	n/a
18	MYC	chr12:26424821-26425201	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr12:26424792-26425281	SK-N-SH	brain:	n/a	n/a
20	RELA	chr12:26424708-26425269	GM18505	blood:	n/a	n/a
21	CEBPB	chr12:26423828-26425026	A549	lung:	n/a	n/a
22	SPI1	chr12:26424978-26425259	GM12878	blood:	n/a	chr12:26425112-26425119 chr12:26425109-26425122
23	MYC	chr12:26424821-26425155	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr12:26424826-26425254	MCF10A-Er-Src	breast:	n/a	n/a
25	RELA	chr12:26424759-26425169	GM10847	blood:	n/a	n/a
26	FOS	chr12:26424870-26425142	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr12:26423940-26425125	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr12:26424778-26425155	GM12878	blood:	n/a	n/a
29	STAT5A	chr12:26424738-26425121	GM12878	blood:	n/a	n/a
30	WRNIP1	chr12:26424692-26425139	GM12878	blood:	n/a	n/a
31	TBP	chr12:26424599-26425090	GM12878	blood:	n/a	n/a
32	EP300	chr12:26424694-26425324	GM12878	blood:	n/a	n/a
33	BATF	chr12:26424733-26425116	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:26424423-26425227	GM12878	blood:	n/a	n/a
35	FOS	chr12:26424727-26425162	MCF10A-Er-Src	breast:	n/a	chr12:26424840-26424852
36	FOS	chr12:26424812-26425155	MCF10A-Er-Src	breast:	n/a	chr12:26424840-26424852
37	RELA	chr12:26424739-26425378	GM19099	blood:	n/a	n/a
38	POLR2A	chr12:26424492-26425148	GM12892	blood:	n/a	n/a
39	MAX	chr12:26424725-26425405	A549	lung:	n/a	n/a
40	BCLAF1	chr12:26424588-26425081	GM12878	blood:	n/a	n/a
41	PAX5	chr12:26424770-26425138	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:26424557-26425291	GM12878	blood:	n/a	n/a
43	MAZ	chr12:26424802-26425067	GM12878	blood:	n/a	n/a
44	CHD1	chr12:26424778-26425245	GM12878	blood:	n/a	n/a
45	JUND	chr12:26423942-26425158	K562	blood:	n/a	chr12:26424228-26424239 chr12:26424840-26424852
46	RELA	chr12:26424716-26425195	GM18951	blood:	n/a	n/a
47	BHLHE40	chr12:26424531-26425304	GM12878	blood:	n/a	n/a
48	MTA3	chr12:26424777-26425434	GM12878	blood:	n/a	n/a
49	ZNF143	chr12:26424708-26425476	GM12878	blood:	n/a	n/a
50	FOXM1	chr12:26424692-26425269	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26424790..26426551-chr12:26525844..26528409,2	MCF-7	breast:
2	chr12:26422309..26424340-chr12:26424935..26427133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255750	TF binding region
ENSG00000212549	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11502725	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11502726	0.93[ASN][1000 genomes]
rs12312234	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133485	0.82[EUR][1000 genomes]
rs73297019	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv983496	chr12:26407082-26428038	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine
2	chr12:26421600-26426000	Enhancers	HSMM	muscle
3	chr12:26421800-26435800	Weak transcription	Gastric	stomach
4	chr12:26422600-26427000	Weak transcription	Small Intestine	intestine
5	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:26423200-26427200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:26423600-26426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:26423800-26425400	Enhancers	HSMMtube	muscle
9	chr12:26423800-26426000	Enhancers	Osteobl	bone
10	chr12:26423800-26426800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:26423800-26427400	Enhancers	NHEK	skin
12	chr12:26423800-26429000	Enhancers	HMEC	breast
13	chr12:26423800-26429200	Enhancers	Stomach Mucosa	stomach
14	chr12:26424000-26427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:26424000-26429000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:26424000-26429200	Enhancers	Fetal Intestine Large	intestine
17	chr12:26424000-26431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:26424200-26425400	Flanking Active TSS	A549	lung
19	chr12:26424200-26425600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:26424200-26429000	Enhancers	Fetal Muscle Leg	muscle
21	chr12:26424400-26425200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:26424400-26425400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:26424400-26425400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:26424400-26425400	Enhancers	Brain Angular Gyrus	brain
25	chr12:26424400-26425400	Enhancers	Fetal Heart	heart
26	chr12:26424400-26425400	Enhancers	Left Ventricle	heart
27	chr12:26424400-26425400	Enhancers	Psoas Muscle	Psoas
28	chr12:26424400-26425400	Enhancers	Right Ventricle	heart
29	chr12:26424400-26425400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:26424400-26425400	Enhancers	Spleen	Spleen
31	chr12:26424400-26425400	Enhancers	HUVEC	blood vessel
32	chr12:26424400-26425400	Enhancers	NHDF-Ad	bronchial
33	chr12:26424400-26425400	Enhancers	NHLF	lung
34	chr12:26424400-26425800	Enhancers	Colon Smooth Muscle	Colon
35	chr12:26424400-26426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:26424400-26428400	Enhancers	Right Atrium	heart
37	chr12:26424400-26430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:26424600-26425200	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:26424600-26425400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:26424600-26425400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:26424600-26425400	Enhancers	Adipose Nuclei	Adipose
42	chr12:26424600-26425400	Enhancers	Esophagus	oesophagus
43	chr12:26424600-26425400	Enhancers	Ovary	ovary
44	chr12:26424600-26425400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:26424600-26425600	Enhancers	Primary T cells from cord blood	blood
46	chr12:26424600-26426000	Enhancers	Fetal Stomach	stomach
47	chr12:26424600-26426000	Enhancers	Pancreas	Pancrea
48	chr12:26424600-26426800	Enhancers	K562	blood
49	chr12:26424600-26427200	Enhancers	Brain Hippocampus Middle	brain
50	chr12:26424600-26427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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