Variant report

Variant	rs4647717
Chromosome Location	chr11:47241780-47241781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47239672..47242292-chr11:47268134..47270391,2	K562	blood:
2	chr11:47239591..47242339-chr11:47244082..47246112,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACP2-1	chr11:47241769-47242316	ENSG00000256897.1

Variant related genes	Relation type
ENSG00000134575	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11039213	1.00[AMR][1000 genomes]
rs11039229	1.00[AMR][1000 genomes]
rs11570119	1.00[AMR][1000 genomes]
rs2010519	1.00[AMR][1000 genomes]
rs2053978	1.00[AMR][1000 genomes]
rs34037785	1.00[AMR][1000 genomes]
rs4647745	1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs59693089	1.00[AMR][1000 genomes]
rs59726655	1.00[AMR][1000 genomes]
rs60183400	1.00[AMR][1000 genomes]
rs7123107	1.00[AMR][1000 genomes]
rs7950077	1.00[AMR][1000 genomes]
rs896814	1.00[AMR][1000 genomes]

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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47241800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47238400-47242000	Weak transcription	K562	blood
3	chr11:47238400-47245000	Weak transcription	Fetal Kidney	kidney
4	chr11:47238400-47246200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:47238400-47246600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:47238600-47241800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:47238600-47241800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:47238600-47242400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:47238600-47242800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:47238600-47243800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:47238600-47245600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:47238600-47247600	Weak transcription	Colonic Mucosa	Colon
15	chr11:47238600-47253800	Weak transcription	Aorta	Aorta
16	chr11:47238600-47254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:47238600-47255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:47238600-47255400	Weak transcription	Right Ventricle	heart
19	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
21	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
22	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
25	chr11:47238800-47241800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:47238800-47241800	Weak transcription	HSMM	muscle
27	chr11:47238800-47244000	Weak transcription	Placenta	Placenta
28	chr11:47238800-47254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:47239000-47244800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:47239400-47242200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:47239400-47243200	Genic enhancers	NHDF-Ad	bronchial
32	chr11:47239400-47244400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:47239400-47245000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:47239400-47246200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:47239400-47252200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:47239400-47252200	Strong transcription	Fetal Thymus	thymus
37	chr11:47239400-47255000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:47239600-47241800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:47239600-47243600	Strong transcription	Primary T cells from cord blood	blood
40	chr11:47239600-47245600	Strong transcription	Thymus	Thymus
41	chr11:47239600-47251800	Strong transcription	Fetal Stomach	stomach
42	chr11:47239800-47242200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:47239800-47242400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr11:47239800-47243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:47239800-47243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:47239800-47245600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:47239800-47245600	Strong transcription	Fetal Intestine Small	intestine
48	chr11:47239800-47247400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:47239800-47254200	Weak transcription	Lung	lung
50	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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