Variant report

Variant	rs1105771
Chromosome Location	chr5:118731273-118731274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118730216..118732111-chr5:118733565..118735307,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1112247	0.84[CEU][hapmap]
rs11241502	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13155880	0.92[CEU][hapmap]
rs17386541	0.97[ASN][1000 genomes]
rs2459726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs250298	0.81[CEU][hapmap]
rs250299	0.81[CEU][hapmap]
rs257981	0.81[ASN][1000 genomes]
rs26181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636961	1.00[JPT][hapmap]
rs2636964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2636968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2678070	1.00[CHB][hapmap]
rs27938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs32651	1.00[CHB][hapmap]
rs32653	0.92[CEU][hapmap]
rs32658	0.92[CEU][hapmap]
rs382719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs422297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs426899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs439954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs450118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs463513	1.00[CHB][hapmap]
rs467076	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4895371	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4895372	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1105771	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:118722600-118733600	Weak transcription	Small Intestine	intestine
6	chr5:118723000-118734800	Weak transcription	Gastric	stomach
7	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
8	chr5:118723800-118732400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:118724200-118734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:118724600-118733000	Weak transcription	Liver	Liver
11	chr5:118725000-118733400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:118725000-118733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:118725000-118735600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:118725400-118734800	Weak transcription	Esophagus	oesophagus
15	chr5:118725400-118734800	Weak transcription	Left Ventricle	heart
16	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:118725400-118736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:118725600-118732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:118725600-118733000	Weak transcription	NHLF	lung
22	chr5:118725600-118734600	Weak transcription	Fetal Kidney	kidney
23	chr5:118725600-118735800	Weak transcription	Aorta	Aorta
24	chr5:118725600-118737800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:118725800-118732200	Weak transcription	Adipose Nuclei	Adipose
26	chr5:118725800-118733000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:118725800-118733600	Weak transcription	Fetal Lung	lung
28	chr5:118725800-118734800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:118725800-118737800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:118725800-118737800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:118725800-118737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:118726000-118733600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:118726000-118736000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:118727000-118738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:118727400-118735800	Weak transcription	Fetal Intestine Small	intestine
37	chr5:118727800-118731400	Strong transcription	Dnd41	blood
38	chr5:118728000-118731800	Strong transcription	Primary T cells from cord blood	blood
39	chr5:118728200-118731400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:118728400-118731800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:118728400-118732200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:118728400-118732200	Strong transcription	Fetal Thymus	thymus
43	chr5:118728600-118732400	Genic enhancers	Primary B cells from cord blood	blood
44	chr5:118728800-118736000	Weak transcription	Fetal Stomach	stomach
45	chr5:118729000-118738600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:118729200-118734800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:118729400-118732800	Weak transcription	A549	lung
48	chr5:118729400-118733000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:118729400-118733800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:118729400-118734600	Weak transcription	Stomach Mucosa	stomach

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