Variant report

Variant	rs547234348
Chromosome Location	chr11:16946496-16946497
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16938600..16942869-chr11:16945668..16948073,6	MCF-7	breast:
2	chr11:16939336..16941584-chr11:16944195..16948360,3	K562	blood:
3	chr11:16945639..16949520-chr11:16949584..16951727,4	MCF-7	breast:
4	chr11:16902742..16904813-chr11:16945225..16947664,2	MCF-7	breast:
5	chr11:16940779..16943639-chr11:16945273..16947792,2	K562	blood:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7689	chr11:16945953-16990852	Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16944400-16946600	Enhancers	Lung	lung
2	chr11:16945000-16947200	Bivalent Enhancer	Fetal Lung	lung
3	chr11:16945000-16947600	Active TSS	Fetal Heart	heart
4	chr11:16945400-16947600	Active TSS	Right Atrium	heart
5	chr11:16945600-16946600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:16945600-16946800	Bivalent Enhancer	Fetal Brain Male	brain
7	chr11:16945600-16947600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:16945600-16947600	Flanking Active TSS	HMEC	breast
9	chr11:16945600-16947800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr11:16945600-16947800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:16945800-16946600	Flanking Active TSS	GM12878-XiMat	blood
12	chr11:16945800-16946600	Flanking Active TSS	NHEK	skin
13	chr11:16945800-16946800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr11:16945800-16947200	Bivalent Enhancer	Spleen	Spleen
15	chr11:16945800-16947600	Enhancers	Primary B cells from cord blood	blood
16	chr11:16945800-16948000	Active TSS	Rectal Smooth Muscle	rectum
17	chr11:16946000-16946600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr11:16946000-16946600	Weak transcription	Gastric	stomach
19	chr11:16946000-16946800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr11:16946000-16946800	Flanking Active TSS	Left Ventricle	heart
21	chr11:16946000-16947200	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr11:16946000-16947400	Active TSS	Ovary	ovary
23	chr11:16946200-16946600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:16946200-16946600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:16946200-16946600	Active TSS	Colonic Mucosa	Colon
26	chr11:16946200-16946600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:16946200-16946600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:16946200-16946600	Bivalent Enhancer	HUVEC	blood vessel
29	chr11:16946200-16946600	Bivalent Enhancer	Osteobl	bone
30	chr11:16946200-16946800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr11:16946200-16946800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:16946200-16946800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr11:16946200-16946800	Flanking Active TSS	HepG2	liver
34	chr11:16946200-16947000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:16946200-16947000	Active TSS	Esophagus	oesophagus
36	chr11:16946200-16947200	Active TSS	Right Ventricle	heart
37	chr11:16946200-16947400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:16946200-16947400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr11:16946200-16947400	Active TSS	Stomach Mucosa	stomach
40	chr11:16946200-16947600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:16946200-16947800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr11:16946400-16946600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr11:16946400-16946600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:16946400-16946600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:16946400-16946600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:16946400-16946600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr11:16946400-16946600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:16946400-16946600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr11:16946400-16946600	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:16946400-16946600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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