Variant report

Variant	rs17314002
Chromosome Location	chr5:112365716-112365717
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	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
2	chr5:112365166..112368140-chr5:112517224..112519156,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10064483	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10064486	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4293906	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4361505	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
4	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:112352400-112367800	Strong transcription	Liver	Liver
6	chr5:112358800-112366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112359600-112365800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:112359600-112367800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:112359800-112365800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
11	chr5:112360200-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:112360400-112367200	Weak transcription	GM12878-XiMat	blood
13	chr5:112360400-112367600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:112360400-112368000	Weak transcription	Primary B cells from cord blood	blood
15	chr5:112360400-112368400	Weak transcription	Stomach Mucosa	stomach
16	chr5:112361000-112368000	Strong transcription	Fetal Stomach	stomach
17	chr5:112361400-112365800	Strong transcription	Ovary	ovary
18	chr5:112361400-112365800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr5:112361400-112366200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:112361400-112367400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:112361400-112368200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:112361800-112366000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:112362400-112365800	Strong transcription	Esophagus	oesophagus
24	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:112363000-112365800	Strong transcription	Thymus	Thymus
26	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
27	chr5:112363200-112366200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:112363600-112366000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:112363600-112366200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:112363600-112368400	Weak transcription	Psoas Muscle	Psoas
31	chr5:112363600-112368600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
34	chr5:112363600-112379200	Weak transcription	Gastric	stomach
35	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
36	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
37	chr5:112363800-112368200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:112363800-112371000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:112363800-112372000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
41	chr5:112363800-112376200	Weak transcription	Dnd41	blood
42	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
43	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
46	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:112364000-112367200	Weak transcription	Brain Germinal Matrix	brain
48	chr5:112364000-112367200	Weak transcription	K562	blood
49	chr5:112364000-112367800	Weak transcription	Brain Anterior Caudate	brain
50	chr5:112364000-112368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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