Variant report

Variant	rs17224199
Chromosome Location	chr2:47639981-47639982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47629127..47633202-chr2:47637994..47643182,6	K562	blood:

Variant related genes	Relation type
ENSG00000095002	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17217828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62138457	0.85[EUR][1000 genomes]
rs62139662	0.81[EUR][1000 genomes]
rs62139666	0.85[EUR][1000 genomes]
rs62139669	0.82[AMR][1000 genomes]
rs62139710	0.82[AMR][1000 genomes]
rs62139715	1.00[EUR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631200-47642000	Weak transcription	Aorta	Aorta
2	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
3	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
5	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:47631800-47640400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47631800-47640800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:47631800-47640800	Weak transcription	NH-A	brain
9	chr2:47631800-47641000	Weak transcription	HMEC	breast
10	chr2:47631800-47642000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:47631800-47642000	Weak transcription	Spleen	Spleen
12	chr2:47631800-47642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:47631800-47643000	Weak transcription	NHDF-Ad	bronchial
14	chr2:47631800-47643200	Weak transcription	HSMM	muscle
15	chr2:47631800-47643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:47631800-47643400	Weak transcription	Fetal Heart	heart
17	chr2:47631800-47643800	Weak transcription	Osteobl	bone
18	chr2:47631800-47646000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:47631800-47647400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:47631800-47649000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:47631800-47649200	Weak transcription	NHEK	skin
22	chr2:47631800-47650000	Weak transcription	NHLF	lung
23	chr2:47631800-47657000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:47631800-47657400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:47631800-47657400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:47631800-47657400	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:47631800-47657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:47631800-47657400	Weak transcription	Small Intestine	intestine
29	chr2:47631800-47657600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
31	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
32	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
33	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
34	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
35	chr2:47632000-47643200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:47632000-47643400	Weak transcription	Fetal Brain Male	brain
37	chr2:47632600-47659600	Strong transcription	Fetal Thymus	thymus
38	chr2:47632800-47649200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:47632800-47659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:47633000-47643400	Strong transcription	Thymus	Thymus
41	chr2:47633000-47648000	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:47633000-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:47633000-47659600	Strong transcription	Fetal Stomach	stomach
44	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:47634000-47654200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:47634600-47647800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:47634600-47657600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:47634600-47657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:47634600-47657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:47634800-47648400	Strong transcription	H9 Cell Line	embryonic stem cell

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