Variant report

Variant	rs1981952
Chromosome Location	chr5:94831757-94831758
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	chr5:94831708..94834724-chr5:94836211..94838681,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10053324	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076499	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1183640	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1541798	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245588	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255165	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2545841	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2548652	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2560258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2560260	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2560274	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2731825	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2731826	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2731833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2881976	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61270217	0.84[ASN][1000 genomes]
rs6556870	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73777211	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9314148	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
3	chr5:94811200-94835600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr5:94812400-94835600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:94815400-94853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:94817200-94849000	Weak transcription	Small Intestine	intestine
7	chr5:94817400-94865600	Strong transcription	Osteobl	bone
8	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:94822400-94835800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:94822400-94839600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:94822400-94840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:94822400-94847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:94822600-94836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:94823200-94834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:94823200-94839600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:94823400-94834000	Weak transcription	Right Ventricle	heart
17	chr5:94823400-94834800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:94823400-94834800	Weak transcription	Pancreas	Pancrea
19	chr5:94824400-94862200	Weak transcription	Colonic Mucosa	Colon
20	chr5:94824800-94843800	Strong transcription	Liver	Liver
21	chr5:94824800-94847200	Weak transcription	Brain Substantia Nigra	brain
22	chr5:94824800-94866000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:94825000-94835200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:94825000-94886200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:94825200-94832800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:94825200-94834800	Weak transcription	Lung	lung
27	chr5:94825200-94835200	Strong transcription	Adipose Nuclei	Adipose
28	chr5:94825200-94866000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:94825400-94834800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:94825400-94835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:94825400-94839800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:94825400-94852200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:94825400-94886400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:94825600-94839600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:94825800-94834800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:94826000-94834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:94826000-94839600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:94826000-94847400	Weak transcription	Fetal Heart	heart
39	chr5:94826000-94886400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:94826200-94835000	Strong transcription	Primary B cells from cord blood	blood
41	chr5:94826800-94832200	Weak transcription	Psoas Muscle	Psoas
42	chr5:94826800-94834000	Weak transcription	Fetal Intestine Small	intestine
43	chr5:94826800-94834000	Weak transcription	Gastric	stomach
44	chr5:94826800-94834400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:94826800-94886400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr5:94827000-94832000	Weak transcription	A549	lung
47	chr5:94827200-94832400	Weak transcription	Brain Anterior Caudate	brain
48	chr5:94827200-94832600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:94827200-94834000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:94827200-94834000	Weak transcription	GM12878-XiMat	blood

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