Variant report

Variant	rs2398631
Chromosome Location	chr5:142718290-142718291
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142718235..142720829-chr5:142782125..142783781,2	K562	blood:
2	chr5:142717710..142720368-chr5:142780305..142783781,4	K562	blood:
3	chr5:142715927..142718605-chr5:142723264..142726092,2	K562	blood:

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10482634	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10482655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10482682	0.97[ASN][1000 genomes]
rs11745958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750172	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17209216	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17209237	0.91[EUR][1000 genomes]
rs17209251	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17209258	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17339455	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17399352	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013935	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2963156	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33944801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4912903	0.97[ASN][1000 genomes]
rs4912906	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4912908	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4986593	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62375499	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62375502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9324916	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1033408	chr5:142701353-142738882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693400-142721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:142697200-142720400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:142699000-142720600	Weak transcription	Hela-S3	cervix
5	chr5:142699200-142721400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:142699600-142718600	Weak transcription	Gastric	stomach
7	chr5:142699600-142720200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:142702000-142725800	Weak transcription	Aorta	Aorta
9	chr5:142703000-142727200	Weak transcription	HSMM	muscle
10	chr5:142703800-142718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:142704200-142728800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:142705200-142725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:142705800-142722400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:142707400-142734800	Weak transcription	Placenta	Placenta
15	chr5:142707800-142720800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:142707800-142727400	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:142708000-142718600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:142708000-142718600	Weak transcription	Right Ventricle	heart
19	chr5:142708000-142724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:142708000-142727200	Weak transcription	Fetal Thymus	thymus
21	chr5:142708000-142727400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:142708000-142728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:142708000-142735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:142708000-142735400	Weak transcription	Fetal Stomach	stomach
25	chr5:142708600-142724400	Weak transcription	Fetal Intestine Small	intestine
26	chr5:142708800-142718400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:142708800-142726400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:142709000-142722200	Weak transcription	Thymus	Thymus
29	chr5:142709000-142725600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:142709000-142725800	Weak transcription	Primary T cells from cord blood	blood
31	chr5:142709200-142725600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:142710200-142718400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:142710200-142720400	Weak transcription	Brain Anterior Caudate	brain
34	chr5:142710800-142718600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:142710800-142719800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:142711400-142720400	Weak transcription	Small Intestine	intestine
37	chr5:142711800-142718400	Weak transcription	NHDF-Ad	bronchial
38	chr5:142711800-142728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:142712000-142720600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:142712400-142720800	Weak transcription	HMEC	breast
41	chr5:142713000-142718800	Weak transcription	NHEK	skin
42	chr5:142714400-142718400	Enhancers	Fetal Heart	heart
43	chr5:142714800-142718800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:142714800-142720600	Weak transcription	Brain Angular Gyrus	brain
45	chr5:142714800-142720600	Weak transcription	Osteobl	bone
46	chr5:142714800-142721800	Weak transcription	Psoas Muscle	Psoas
47	chr5:142714800-142721800	Weak transcription	Right Atrium	heart
48	chr5:142714800-142726200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:142715200-142721800	Strong transcription	Dnd41	blood
50	chr5:142715200-142726600	Weak transcription	HepG2	liver

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