Variant report

Variant	rs17000114
Chromosome Location	chr4:75960576-75960577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75960294..75964259-chr4:75966325..75970196,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10007853	0.92[ASN][1000 genomes]
rs10012438	0.92[ASN][1000 genomes]
rs10015360	0.94[ASN][1000 genomes]
rs10015456	0.89[ASN][1000 genomes]
rs10018358	0.94[ASN][1000 genomes]
rs1043633	0.94[ASN][1000 genomes]
rs1043634	0.94[ASN][1000 genomes]
rs10518133	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11943279	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1346138	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16997586	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17000108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17000112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000141	0.92[ASN][1000 genomes]
rs17000149	0.94[ASN][1000 genomes]
rs17000150	0.94[ASN][1000 genomes]
rs17250403	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17250773	0.92[ASN][1000 genomes]
rs28461358	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28582004	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3733466	0.92[ASN][1000 genomes]
rs3733467	0.92[ASN][1000 genomes]
rs3775530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796683	0.92[ASN][1000 genomes]
rs6824037	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6829853	0.92[ASN][1000 genomes]
rs6836425	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6851144	0.91[ASN][1000 genomes]
rs72660383	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72660386	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7654416	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7680016	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7683115	0.94[ASN][1000 genomes]
rs890289	0.94[ASN][1000 genomes]
rs9090	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005324	chr4:75689880-76233555	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv537142	chr4:75689880-76233555	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17000114	DKFZP564O0823	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75938800-75962000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:75940000-75976200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:75942800-75962200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:75944200-75971000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:75949800-75963600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:75951800-75965200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:75954400-75971000	Weak transcription	Fetal Heart	heart
8	chr4:75956400-75962400	Weak transcription	Left Ventricle	heart
9	chr4:75956400-75976000	Weak transcription	Spleen	Spleen
10	chr4:75956600-75961000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:75956600-75964800	Weak transcription	Stomach Mucosa	stomach
12	chr4:75956800-75967600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:75956800-75982800	Weak transcription	Pancreas	Pancrea
14	chr4:75957200-75976400	Weak transcription	Colonic Mucosa	Colon
15	chr4:75957600-75962200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:75957600-75971200	Weak transcription	Fetal Intestine Small	intestine
17	chr4:75959000-75960800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:75959000-75961000	Genic enhancers	Rectal Mucosa Donor 31	rectum
19	chr4:75959000-75961600	Strong transcription	Fetal Muscle Leg	muscle
20	chr4:75959000-75963000	Strong transcription	Aorta	Aorta
21	chr4:75959200-75960600	Genic enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:75959800-75962000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:75959800-75962600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:75960000-75960800	Enhancers	Adipose Nuclei	Adipose
25	chr4:75960000-75961000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:75960000-75961800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:75960000-75963000	Enhancers	Primary B cells from peripheral blood	blood
28	chr4:75960200-75960600	Weak transcription	Right Ventricle	heart

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