Variant report

Variant	rs556681309
Chromosome Location	chr11:47658341-47658342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47648151..47655137-chr11:47656071..47661932,11	K562	blood:
2	chr11:47652437..47655137-chr11:47656639..47658574,2	K562	blood:
3	chr11:47648507..47652310-chr11:47658295..47660637,4	K562	blood:
4	chr11:47655594..47657226-chr11:47658278..47659810,2	K562	blood:

Variant related genes	Relation type
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv3439101	chr11:47657065-47660300	Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
9	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:47638400-47660400	Strong transcription	Dnd41	blood
15	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
20	chr11:47639600-47661200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:47640000-47661000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:47640600-47661400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:47640800-47661400	Strong transcription	Fetal Intestine Small	intestine
27	chr11:47640800-47661400	Strong transcription	Fetal Stomach	stomach
28	chr11:47641800-47659200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:47641800-47661200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:47641800-47661600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:47642000-47661400	Strong transcription	Placenta	Placenta
32	chr11:47642000-47661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:47643400-47661200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:47644000-47661600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:47646800-47662600	Weak transcription	Aorta	Aorta
36	chr11:47648200-47662800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:47648200-47663200	Weak transcription	Gastric	stomach
38	chr11:47648400-47662800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:47649200-47662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:47653400-47661600	Weak transcription	Pancreas	Pancrea
41	chr11:47653400-47662600	Weak transcription	Psoas Muscle	Psoas
42	chr11:47653600-47662200	Weak transcription	Fetal Brain Male	brain
43	chr11:47653600-47662200	Weak transcription	Fetal Heart	heart
44	chr11:47653800-47662400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:47654000-47660800	Strong transcription	Liver	Liver
46	chr11:47654000-47661200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:47654400-47658800	Strong transcription	Lung	lung
48	chr11:47654400-47661200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:47654400-47661400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:47654600-47661200	Strong transcription	Thymus	Thymus

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