Variant report

Variant	rs4274814
Chromosome Location	chr4:87883837-87883838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87875765..87890159-chr4:87922878..87933002,25	K562	blood:
2	chr4:87866938..87869563-chr4:87883119..87884691,2	K562	blood:
3	chr4:87854986..87857497-chr4:87880594..87884426,5	MCF-7	breast:
4	chr4:87854534..87858113-chr4:87881394..87886236,9	K562	blood:
5	chr4:87867715..87870000-chr4:87883212..87884800,2	K562	blood:
6	chr4:87881202..87884789-chr4:87884979..87890767,11	K562	blood:
7	chr4:87882295..87884551-chr4:87895406..87897794,3	K562	blood:
8	chr4:87877638..87879941-chr4:87882578..87885517,2	K562	blood:
9	chr4:87852704..87859599-chr4:87881193..87886124,9	K562	blood:
10	chr4:87880314..87885431-chr4:87925237..87930359,11	K562	blood:
11	chr4:87881889..87884650-chr4:87886335..87888542,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10022539	0.81[ASN][1000 genomes]
rs12651081	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13102958	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1584346	0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs2053769	0.85[LWK][hapmap]
rs2053775	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2594278	1.00[ASW][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.86[ASN][1000 genomes]
rs2594279	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2705616	0.87[ASN][1000 genomes]
rs2785	0.81[ASN][1000 genomes]
rs3109038	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3113494	0.85[CHB][hapmap];0.81[CHD][hapmap];0.80[JPT][hapmap];0.94[LWK][hapmap]
rs3113495	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs340630	0.85[LWK][hapmap]
rs340636	0.90[LWK][hapmap]
rs340639	0.90[LWK][hapmap]
rs34695855	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4536898	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs991852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
6	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4274814	C4orf36	cis	parietal	SCAN
rs4274814	HSD17B11	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
2	chr4:87868600-87886800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:87869600-87886200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:87869800-87888000	Weak transcription	HUVEC	blood vessel
6	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:87872800-87891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:87876600-87886400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:87877400-87886200	Weak transcription	Hela-S3	cervix
11	chr4:87878800-87891600	Weak transcription	NHEK	skin
12	chr4:87879000-87884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:87879600-87885400	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:87880000-87885000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:87880600-87884000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:87880600-87884200	Genic enhancers	Placenta	Placenta
17	chr4:87881000-87884600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:87881000-87891800	Weak transcription	Lung	lung
19	chr4:87881000-87897600	Weak transcription	Brain Angular Gyrus	brain
20	chr4:87881200-87890000	Weak transcription	Aorta	Aorta
21	chr4:87881400-87884600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:87881600-87884400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:87881600-87884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:87881800-87884000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr4:87882000-87884800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:87882000-87884800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:87882000-87888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:87882000-87895400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:87882200-87884000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:87882200-87884000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:87882200-87884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:87882200-87885400	Weak transcription	HSMMtube	muscle
33	chr4:87882200-87889800	Weak transcription	Pancreas	Pancrea
34	chr4:87882200-87891400	Weak transcription	Ovary	ovary
35	chr4:87882200-87895600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:87882400-87884600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:87882400-87884800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:87882400-87884800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:87882400-87886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:87882400-87887200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:87882400-87893800	Weak transcription	Colonic Mucosa	Colon
42	chr4:87882400-87898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:87882600-87884600	Weak transcription	HepG2	liver
44	chr4:87882600-87885000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:87882600-87886200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:87882600-87886800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:87882600-87891400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:87882800-87884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:87882800-87884400	Weak transcription	A549	lung

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