Variant report

Variant	rs547869992
Chromosome Location	chr11:75061863-75061864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75039534..75040119-chr11:75061306..75062290,2	MCF-7	breast:
2	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
3	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199090	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases
4	esv3374722	chr11:75060004-75064302	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3338679	chr11:75061154-75063652	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3423985	chr11:75061529-75064077	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3380305	chr11:75061754-75063802	Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75054600-75062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:75056200-75062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:75057200-75062000	Enhancers	Fetal Heart	heart
4	chr11:75057600-75062600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:75058600-75062000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:75059400-75062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:75059800-75062000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:75060000-75062200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr11:75060000-75062400	Flanking Active TSS	HepG2	liver
10	chr11:75060000-75062600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:75060200-75062200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:75060200-75062400	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr11:75060200-75062400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr11:75060200-75062400	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:75060200-75062600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:75060400-75062000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
17	chr11:75060400-75062200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr11:75060400-75062200	Flanking Active TSS	HUVEC	blood vessel
19	chr11:75060400-75062400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:75060400-75062400	Flanking Active TSS	Hela-S3	cervix
21	chr11:75060400-75062400	Flanking Active TSS	K562	blood
22	chr11:75060400-75062600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr11:75060400-75062600	Flanking Active TSS	Colonic Mucosa	Colon
24	chr11:75060400-75062600	Flanking Active TSS	Dnd41	blood
25	chr11:75060600-75062000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr11:75060600-75062000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:75060600-75062000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:75060600-75062200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:75060600-75062200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:75060600-75062400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:75060600-75062400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:75060600-75062400	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:75060800-75062000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:75060800-75062000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
35	chr11:75060800-75062400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr11:75060800-75062400	Flanking Active TSS	Fetal Lung	lung
37	chr11:75060800-75062400	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr11:75060800-75062400	Flanking Active TSS	Placenta	Placenta
39	chr11:75060800-75062400	Flanking Active TSS	Pancreas	Pancrea
40	chr11:75060800-75062600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:75060800-75062600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:75060800-75062600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:75060800-75063600	Active TSS	Rectal Smooth Muscle	rectum
44	chr11:75061000-75062000	Active TSS	Right Atrium	heart
45	chr11:75061000-75062400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr11:75061000-75062400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:75061000-75063600	Active TSS	Lung	lung
48	chr11:75061200-75062000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:75061200-75062200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:75061200-75062200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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