Variant report

Variant	rs2435064
Chromosome Location	chr5:14603849-14603850
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10072696	0.87[EUR][1000 genomes]
rs17296475	0.95[EUR][1000 genomes]
rs17296541	0.95[EUR][1000 genomes]
rs17362465	0.87[EUR][1000 genomes]
rs17571949	0.98[EUR][1000 genomes]
rs3845281	0.84[EUR][1000 genomes]
rs60087848	0.93[EUR][1000 genomes]
rs73046720	0.93[EUR][1000 genomes]
rs73046727	0.89[EUR][1000 genomes]
rs73046737	0.93[EUR][1000 genomes]
rs73046740	0.93[EUR][1000 genomes]
rs73046743	0.93[EUR][1000 genomes]
rs73046748	0.82[EUR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2435064	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
2	chr5:14591800-14610000	Weak transcription	Gastric	stomach
3	chr5:14592000-14618400	Weak transcription	Hela-S3	cervix
4	chr5:14593200-14618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:14593400-14604800	Weak transcription	Fetal Stomach	stomach
6	chr5:14593600-14615200	Weak transcription	Fetal Brain Female	brain
7	chr5:14594400-14621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:14595200-14613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:14595400-14616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:14597600-14610400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:14598200-14618200	Weak transcription	Thymus	Thymus
12	chr5:14598400-14604800	Weak transcription	Lung	lung
13	chr5:14598400-14610400	Weak transcription	Spleen	Spleen
14	chr5:14598400-14619400	Weak transcription	Small Intestine	intestine
15	chr5:14598800-14607000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:14598800-14608200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:14598800-14608400	Weak transcription	Pancreas	Pancrea
18	chr5:14598800-14608800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:14598800-14616600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:14598800-14617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:14598800-14618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:14599000-14616800	Weak transcription	Brain Angular Gyrus	brain
23	chr5:14599400-14610400	Weak transcription	Left Ventricle	heart
24	chr5:14600000-14618000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:14600400-14606000	Weak transcription	Fetal Brain Male	brain
26	chr5:14600400-14609000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:14600400-14615400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:14601200-14604400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:14601200-14618200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:14601400-14604800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:14601400-14606000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:14601400-14606200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:14601400-14606400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr5:14601400-14606400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr5:14601400-14617000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:14601600-14604800	Strong transcription	Primary T cells from cord blood	blood
37	chr5:14601600-14605400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:14601600-14610200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:14601600-14612200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:14601600-14612600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr5:14601800-14605400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:14601800-14607200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:14602000-14605600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:14602000-14621800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:14602200-14604400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:14602600-14605200	Strong transcription	Colonic Mucosa	Colon
47	chr5:14602600-14605200	Strong transcription	Fetal Intestine Large	intestine
48	chr5:14602800-14615400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:14603000-14610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:14603200-14607800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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