Variant report

Variant	rs11547957
Chromosome Location	chr5:43445855-43445856
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43445384..43449437-chr5:43481236..43485004,3	K562	blood:
2	chr5:43444327..43447560-chr5:43451285..43455432,4	K562	blood:
3	chr5:43444909..43446701-chr5:43452016..43454646,2	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1032485	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6866716	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43429400-43460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43433200-43454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:43433200-43460200	Weak transcription	NHLF	lung
4	chr5:43433400-43456000	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:43433600-43452200	Weak transcription	Osteobl	bone
6	chr5:43433800-43483400	Weak transcription	Gastric	stomach
7	chr5:43438400-43451000	Weak transcription	HepG2	liver
8	chr5:43438800-43460600	Weak transcription	NH-A	brain
9	chr5:43440000-43462400	Weak transcription	Colonic Mucosa	Colon
10	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:43441800-43461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:43442000-43453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:43442000-43460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:43442600-43446200	Weak transcription	Fetal Brain Male	brain
17	chr5:43443000-43448400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:43443400-43446600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr5:43443400-43446800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:43443400-43448000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:43443600-43446000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr5:43443600-43448400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:43443800-43446600	Strong transcription	Adipose Nuclei	Adipose
24	chr5:43443800-43456800	Weak transcription	A549	lung
25	chr5:43443800-43459600	Weak transcription	NHDF-Ad	bronchial
26	chr5:43443800-43460200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:43443800-43460200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:43444000-43446400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:43444000-43446400	Weak transcription	Brain Substantia Nigra	brain
30	chr5:43444000-43446400	Weak transcription	GM12878-XiMat	blood
31	chr5:43444000-43446600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:43444000-43447200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:43444000-43447800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:43444000-43448000	Weak transcription	Brain Germinal Matrix	brain
35	chr5:43444000-43448400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:43444000-43449400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:43444000-43450200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:43444000-43450600	Weak transcription	Liver	Liver
39	chr5:43444000-43453400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:43444000-43456400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:43444000-43459800	Weak transcription	Fetal Thymus	thymus
42	chr5:43444000-43460200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:43444000-43460200	Weak transcription	HSMMtube	muscle
44	chr5:43444000-43460200	Weak transcription	K562	blood
45	chr5:43444000-43460200	Weak transcription	NHEK	skin
46	chr5:43444000-43461400	Weak transcription	Spleen	Spleen
47	chr5:43444000-43463600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:43444000-43464400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart

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