Variant report

Variant	rs32649
Chromosome Location	chr5:118790979-118790980
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	chr5:118788483..118791355-chr5:118802793..118805177,3	K562	blood:

Variant related genes	Relation type
ENSG00000239084	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs154632	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs193346	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2451815	0.83[ASN][1000 genomes]
rs2455466	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2455467	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2457222	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs257979	0.83[ASN][1000 genomes]
rs257983	0.86[ASN][1000 genomes]
rs257985	0.83[ASN][1000 genomes]
rs258047	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs258050	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs258051	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs32643	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs32644	0.95[ASN][1000 genomes]
rs32645	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs32646	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs39969	0.81[AMR][1000 genomes];0.89[ASN][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	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
3	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118788800-118791000	Flanking Active TSS	Liver	Liver
2	chr5:118789000-118791400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
5	chr5:118789000-118805400	Weak transcription	Ovary	ovary
6	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
7	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:118789200-118791600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:118789200-118792000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:118789200-118792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:118789200-118792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:118789200-118792800	Weak transcription	Right Ventricle	heart
15	chr5:118789200-118793400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
21	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:118789200-118805600	Weak transcription	Gastric	stomach
23	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:118789400-118791400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:118789400-118791600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:118789400-118792200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:118789400-118792200	Weak transcription	Primary T cells from cord blood	blood
28	chr5:118789400-118792800	Weak transcription	Placenta	Placenta
29	chr5:118789400-118793000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:118789400-118793000	Weak transcription	HSMM	muscle
31	chr5:118789400-118794400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:118789400-118794600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:118789400-118794800	Weak transcription	HUVEC	blood vessel
34	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:118789400-118831200	Weak transcription	NH-A	brain
38	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
39	chr5:118789600-118792400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:118789600-118794800	Weak transcription	NHEK	skin
41	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:118789600-118810600	Weak transcription	Osteobl	bone
45	chr5:118789600-118812000	Weak transcription	A549	lung
46	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:118789800-118791400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:118789800-118792000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:118789800-118792000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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