Variant report

Variant	rs572461468
Chromosome Location	chr11:102192702-102192703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:102192647-102192772	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:102192392-102193882	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:102192209-102194258	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:102186664-102199529	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102191111..102193530-chr11:102215837..102217502,2	MCF-7	breast:
2	chr11:102186513..102189172-chr11:102190893..102193034,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIRC3-1	chr11:102192568-102192973	NONHSAT023875
2	lnc-BIRC3-1	chr11:102192568-102192859	NONHSAT023876

No data

Variant related genes	Relation type
BIRC3	TF binding region
ENSG00000023445	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv556142	chr11:102192574-102202015	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188200-102193800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:102188400-102192800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr11:102188800-102193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:102188800-102193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
6	chr11:102189000-102193200	Weak transcription	NH-A	brain
7	chr11:102189200-102193600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:102189200-102194200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
9	chr11:102189200-102197600	Weak transcription	Fetal Intestine Small	intestine
10	chr11:102189400-102192800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
11	chr11:102189400-102193400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:102189400-102193600	Weak transcription	HSMM	muscle
13	chr11:102189400-102194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:102189400-102197400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
16	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
18	chr11:102189600-102192800	Weak transcription	NHDF-Ad	bronchial
19	chr11:102189600-102192800	Weak transcription	NHLF	lung
20	chr11:102189600-102193000	Weak transcription	NHEK	skin
21	chr11:102189600-102193600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:102189600-102193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:102189600-102194400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:102189600-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:102189600-102200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:102189600-102200800	Weak transcription	Left Ventricle	heart
27	chr11:102189800-102192800	Weak transcription	Osteobl	bone
28	chr11:102189800-102194000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:102189800-102194400	Weak transcription	HMEC	breast
30	chr11:102189800-102196200	Weak transcription	Liver	Liver
31	chr11:102190000-102196400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
32	chr11:102190400-102193000	Enhancers	Fetal Thymus	thymus
33	chr11:102190600-102192800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:102190600-102192800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:102190600-102194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:102190600-102196000	Enhancers	Hela-S3	cervix
37	chr11:102190600-102197000	Weak transcription	Colonic Mucosa	Colon
38	chr11:102190600-102202800	Weak transcription	Pancreas	Pancrea
39	chr11:102190800-102195400	Weak transcription	Small Intestine	intestine
40	chr11:102191000-102194200	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:102191200-102194200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
42	chr11:102191200-102195200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:102191200-102197000	Weak transcription	Gastric	stomach
44	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
45	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
46	chr11:102191400-102194800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:102191400-102197000	Weak transcription	Lung	lung
48	chr11:102191600-102195200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr11:102191600-102197000	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:102191600-102197000	Weak transcription	Duodenum Mucosa	Duodenum

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