Variant report

Variant	rs11574041
Chromosome Location	chr12:48276221-48276222
allele	A/G
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	MTA3	chr12:48275926-48279701	GM12878	blood:	n/a	n/a
2	RCOR1	chr12:48275275-48276352	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48276120..48279378-chr12:48295337..48299363,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205537	TF binding region
ENSG00000111424	Chromatin interaction

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

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

rs_ID	r²[population]
rs2525050	1.00[EUR][1000 genomes]
rs41272781	1.00[EUR][1000 genomes]
rs58436504	1.00[EUR][1000 genomes]
rs61048429	1.00[EUR][1000 genomes]
rs7974905	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 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	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
2	chr12:48253000-48276800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
4	chr12:48264800-48276800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:48265000-48276800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:48273200-48276400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:48273600-48277200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:48273800-48276600	Weak transcription	Colonic Mucosa	Colon
10	chr12:48273800-48276600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:48273800-48278800	Enhancers	NHDF-Ad	bronchial
12	chr12:48274800-48276600	Enhancers	HMEC	breast
13	chr12:48275000-48276400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:48275000-48276800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:48275000-48277200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:48275000-48277400	Enhancers	HSMM	muscle
17	chr12:48275000-48279800	Enhancers	Fetal Intestine Large	intestine
18	chr12:48275200-48277600	Enhancers	Hela-S3	cervix
19	chr12:48275200-48278000	Enhancers	NH-A	brain
20	chr12:48275200-48279200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:48275200-48280000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:48275200-48280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:48275400-48276400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:48275400-48277400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:48275400-48277600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:48275400-48277800	Enhancers	Primary B cells from cord blood	blood
27	chr12:48275600-48276400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr12:48275600-48276400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:48275600-48276400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:48275600-48276400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:48275600-48276600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48275600-48276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:48275600-48276600	Enhancers	Small Intestine	intestine
34	chr12:48275600-48276800	Enhancers	Spleen	Spleen
35	chr12:48275600-48277400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:48275600-48277600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:48275600-48277600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:48275600-48278000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:48275600-48278200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:48275600-48278600	Genic enhancers	NHEK	skin
41	chr12:48275600-48279800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:48275800-48276400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:48275800-48276400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:48275800-48276400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:48275800-48276400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:48275800-48276400	Enhancers	GM12878-XiMat	blood
47	chr12:48275800-48276800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:48275800-48277000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:48275800-48277000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:48275800-48277800	Enhancers	Placenta	Placenta

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