Variant report

Variant	rs598331
Chromosome Location	chr10:5981143-5981144
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	chr10:5973930..5977726-chr10:5979603..5983323,6	K562	blood:
2	chr10:5976188..5979309-chr10:5979959..5984368,9	K562	blood:

Variant related genes	Relation type
ENSG00000134452	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2669122	0.90[ASN][1000 genomes]
rs2669126	0.94[ASN][1000 genomes]
rs582359	0.90[ASN][1000 genomes]
rs591510	0.90[ASN][1000 genomes]
rs591878	0.90[ASN][1000 genomes]
rs593610	0.90[ASN][1000 genomes]
rs595923	0.90[ASN][1000 genomes]
rs603780	0.87[ASN][1000 genomes]
rs607728	0.87[ASN][1000 genomes]
rs610093	0.94[ASN][1000 genomes]
rs621628	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622758	0.94[ASN][1000 genomes]
rs626344	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs633797	0.94[ASN][1000 genomes]
rs633928	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs633930	0.94[ASN][1000 genomes]
rs635532	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs636578	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs647945	0.81[ASN][1000 genomes]
rs649537	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs664603	0.94[ASN][1000 genomes]
rs668498	0.92[ASN][1000 genomes]
rs670856	0.88[ASN][1000 genomes]
rs672126	0.83[ASN][1000 genomes]
rs680020	0.94[ASN][1000 genomes]
rs685852	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs686854	0.88[ASN][1000 genomes]
rs688388	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr10:5944000-5981600	Strong transcription	Fetal Intestine Small	intestine
2	chr10:5944600-5981200	Strong transcription	Fetal Thymus	thymus
3	chr10:5947000-5981600	Strong transcription	Placenta	Placenta
4	chr10:5947400-5981200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:5947600-5981200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr10:5948800-5981600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:5950600-5981200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:5952000-5985000	Weak transcription	Stomach Mucosa	stomach
9	chr10:5955000-5981400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:5960600-5981200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:5961000-5981200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:5966200-5983600	Weak transcription	Right Atrium	heart
13	chr10:5969400-5982800	Strong transcription	Fetal Stomach	stomach
14	chr10:5969600-5987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:5969800-5981200	Strong transcription	Fetal Muscle Leg	muscle
17	chr10:5970000-5981600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr10:5971800-5983400	Weak transcription	Psoas Muscle	Psoas
20	chr10:5972800-5986800	Weak transcription	Hela-S3	cervix
21	chr10:5973400-5985600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:5975000-5981200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:5977000-5981200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr10:5977000-5981200	Strong transcription	Adipose Nuclei	Adipose
25	chr10:5977200-5981200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:5977600-5986800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr10:5978000-5985400	Weak transcription	Fetal Heart	heart
28	chr10:5978400-5983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:5978600-5985400	Weak transcription	Fetal Kidney	kidney
30	chr10:5978800-5988200	Weak transcription	Fetal Brain Male	brain
31	chr10:5979000-5983600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:5979200-5986800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr10:5979400-5985400	Weak transcription	Small Intestine	intestine
34	chr10:5980000-5981400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:5980000-5991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr10:5980200-5985400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr10:5980200-5987200	Weak transcription	Primary B cells from cord blood	blood
39	chr10:5980200-5987800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr10:5980400-5982200	Weak transcription	Dnd41	blood
41	chr10:5980400-5983000	Weak transcription	HepG2	liver
42	chr10:5980400-5983800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:5980400-5984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:5980400-5985400	Weak transcription	NHDF-Ad	bronchial
45	chr10:5980400-5987800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:5980600-5982400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:5980600-5983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:5980600-5983800	Weak transcription	Right Ventricle	heart
49	chr10:5980600-5983800	Weak transcription	HUVEC	blood vessel
50	chr10:5980600-5984000	Weak transcription	Ovary	ovary

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