Variant report

Variant	rs39971
Chromosome Location	chr5:118849174-118849175
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	chr5:118844240..118846924-chr5:118848133..118851535,3	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs161852	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2259347	0.82[EUR][1000 genomes]
rs2451816	0.82[EUR][1000 genomes]
rs257971	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs257978	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2678070	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2945327	0.89[EUR][1000 genomes]
rs32651	0.80[AMR][1000 genomes]
rs32659	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32662	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32663	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs32665	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35235684	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs457106	0.83[EUR][1000 genomes]
rs463513	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:118794800-118861200	Weak transcription	HSMM	muscle
2	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118832400-118878200	Weak transcription	NH-A	brain
5	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118833000-118860200	Weak transcription	Stomach Mucosa	stomach
7	chr5:118836000-118850600	Weak transcription	HUVEC	blood vessel
8	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
10	chr5:118841000-118849800	Weak transcription	Osteobl	bone
11	chr5:118841000-118856600	Strong transcription	Liver	Liver
12	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
13	chr5:118841200-118880000	Weak transcription	A549	lung
14	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
15	chr5:118842200-118860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:118842400-118853000	Strong transcription	Adipose Nuclei	Adipose
17	chr5:118843800-118851400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:118843800-118852800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:118844000-118849600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:118844400-118852600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:118844400-118852800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
23	chr5:118846600-118853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:118846800-118852600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:118846800-118857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:118846800-118860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:118846800-118862800	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:118846800-118878200	Weak transcription	NHLF	lung
29	chr5:118847000-118852600	Weak transcription	Pancreas	Pancrea
30	chr5:118847000-118852600	Weak transcription	Right Ventricle	heart
31	chr5:118847000-118854000	Weak transcription	Brain Anterior Caudate	brain
32	chr5:118847000-118854000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:118847000-118854200	Weak transcription	Thymus	Thymus
34	chr5:118847000-118860000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:118847000-118863000	Weak transcription	NHDF-Ad	bronchial
36	chr5:118847000-118868000	Weak transcription	K562	blood
37	chr5:118847200-118849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:118847200-118850600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:118847200-118850800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:118847200-118851000	Weak transcription	Fetal Thymus	thymus
41	chr5:118847200-118852400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
44	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:118847400-118849800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:118847400-118850200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:118847400-118851000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:118847400-118851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:118847400-118852200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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