Variant report

Variant	rs293756
Chromosome Location	chr5:36985751-36985752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36980489..36983193-chr5:36983998..36987194,3	K562	blood:
2	chr5:36984839..36987108-chr5:36990813..36992695,2	MCF-7	breast:
3	chr5:36984035..36986257-chr5:36992707..36994891,2	K562	blood:
4	chr5:36982523..36985797-chr5:36985897..36989039,3	K562	blood:
5	chr5:36874429..36878345-chr5:36984473..36987380,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1669445	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903458	0.93[AFR][1000 genomes]
rs16903489	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs192668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs192669	0.97[AFR][1000 genomes]
rs2047593	0.92[AFR][1000 genomes]
rs289217	0.82[AFR][1000 genomes]
rs291113	0.85[AFR][1000 genomes]
rs291115	0.82[AFR][1000 genomes]
rs2914148	0.80[AFR][1000 genomes]
rs2934797	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs293757	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs293776	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs298969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs299400	1.00[AMR][1000 genomes]
rs468906	0.93[AFR][1000 genomes]
rs531988	0.90[AFR][1000 genomes]
rs56745362	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57317297	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60509887	0.89[AFR][1000 genomes]
rs6891775	0.97[AFR][1000 genomes]
rs6895401	1.00[AMR][1000 genomes]
rs73750903	0.83[AFR][1000 genomes]
rs73750918	0.93[AFR][1000 genomes]
rs73750919	0.82[AFR][1000 genomes]
rs73750925	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750929	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv1034694	chr5:36946454-36991605	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1015172	chr5:36946454-36993280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1033778	chr5:36946454-36994811	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1033928	chr5:36947293-37039857	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv881592	chr5:36954812-37027258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
21	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv881136	chr5:36976160-37029885	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs293756	FCER2	trans	lymphoblastoid	seeQTL
rs293756	RAB31	trans	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36948400-36985800	Weak transcription	Colonic Mucosa	Colon
2	chr5:36948600-36996600	Weak transcription	HSMMtube	muscle
3	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:36951400-37004400	Weak transcription	Right Ventricle	heart
5	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
6	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:36955400-37010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:36959400-36988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:36959400-36996800	Weak transcription	Gastric	stomach
10	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
11	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
12	chr5:36966000-36998800	Weak transcription	Fetal Heart	heart
13	chr5:36968800-36996200	Weak transcription	Lung	lung
14	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
15	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
16	chr5:36972600-37019200	Weak transcription	Brain Angular Gyrus	brain
17	chr5:36974200-36996400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:36976400-36996200	Weak transcription	Brain Substantia Nigra	brain
19	chr5:36976400-37010600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:36976600-36987400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:36976600-37008800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:36976600-37019200	Weak transcription	NHLF	lung
23	chr5:36976600-37022800	Weak transcription	Fetal Brain Male	brain
24	chr5:36976800-36988200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:36977000-36987400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:36977000-36996000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:36977000-37002000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:36977000-37003400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:36978000-36995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:36978000-37004400	Weak transcription	Fetal Intestine Small	intestine
31	chr5:36978200-37004200	Weak transcription	Fetal Brain Female	brain
32	chr5:36979000-37002200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:36982200-36995800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:36982400-36987600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:36983000-37000400	Weak transcription	HMEC	breast
37	chr5:36983600-36987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:36983800-36986800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:36983800-36999400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:36984200-36986200	Strong transcription	Dnd41	blood
41	chr5:36984200-36996400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:36984400-36986600	Strong transcription	Hela-S3	cervix
43	chr5:36984400-36986800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:36984400-36987000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:36984600-36986000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:36984600-36986200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:36984600-36986200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr5:36984600-36986200	Strong transcription	Fetal Thymus	thymus
49	chr5:36984600-36986200	Strong transcription	HSMM	muscle
50	chr5:36984800-36985800	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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