Variant report

Variant	rs30791
Chromosome Location	chr5:14384453-14384454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14384239-14384489	ProgFib	skin:	n/a	n/a
2	MAFK	chr5:14384386-14384534	HepG2	liver:	n/a	chr5:14384451-14384462

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14380580..14382137-chr5:14384251..14386172,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11955578	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11957060	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957857	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13172149	0.94[EUR][1000 genomes]
rs13172877	0.94[EUR][1000 genomes]
rs13188746	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13189406	0.94[EUR][1000 genomes]
rs13356126	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs154151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17304403	0.92[EUR][1000 genomes]
rs173947	1.00[ASN][1000 genomes]
rs185355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs187190	0.87[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs187667	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247136	0.98[ASN][1000 genomes]
rs247137	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs256412	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256418	0.87[ASN][1000 genomes]
rs28343	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30606	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs30607	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs30608	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs30609	0.88[ASN][1000 genomes]
rs30610	0.86[ASN][1000 genomes]
rs30611	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs30766	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30767	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30768	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30774	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs30785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30786	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30787	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30788	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30789	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30793	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs30794	1.00[JPT][hapmap]
rs30795	1.00[JPT][hapmap]
rs30799	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30800	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30801	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860741	0.92[EUR][1000 genomes]
rs36077682	0.92[EUR][1000 genomes]
rs378369	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389729	0.95[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs397319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40278	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42206	1.00[ASN][1000 genomes]
rs42404	0.87[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs42555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4702029	0.90[CEU][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs71614085	0.88[EUR][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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs30791	FAM105B	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr5:14354600-14402400	Strong transcription	Liver	Liver
5	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
6	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
8	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
12	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
13	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine
14	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:14363600-14386000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:14363600-14396000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:14363800-14385600	Strong transcription	A549	lung
20	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:14366000-14392400	Strong transcription	HSMM	muscle
23	chr5:14366600-14385600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:14366600-14391600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:14366800-14403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:14367400-14399800	Strong transcription	Left Ventricle	heart
27	chr5:14371200-14388000	Weak transcription	Small Intestine	intestine
28	chr5:14372400-14398600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:14372600-14389800	Weak transcription	Fetal Brain Male	brain
30	chr5:14373800-14385400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:14373800-14388600	Weak transcription	Fetal Heart	heart
32	chr5:14374400-14385600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:14374400-14391800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:14374400-14392000	Strong transcription	NHEK	skin
35	chr5:14374400-14397000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:14374400-14399600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:14374600-14392200	Strong transcription	HMEC	breast
38	chr5:14375400-14386200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:14375400-14387000	Strong transcription	NH-A	brain
40	chr5:14375600-14387000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:14375800-14386800	Strong transcription	Osteobl	bone
42	chr5:14375800-14396200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:14376200-14392600	Strong transcription	NHDF-Ad	bronchial
44	chr5:14376800-14392200	Strong transcription	NHLF	lung
45	chr5:14377000-14386200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:14377000-14396200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr5:14377200-14384800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:14377200-14388800	Strong transcription	Fetal Stomach	stomach
49	chr5:14377200-14390000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:14377400-14384600	Strong transcription	Fetal Intestine Small	intestine

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