Variant report

Variant	rs1105769
Chromosome Location	chr5:118731067-118731068
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10064000	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10077888	0.88[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs1047322	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10478422	0.91[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1105770	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509144	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1848554	0.96[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs193346	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1995794	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2451814	0.91[JPT][hapmap]
rs2455466	0.84[EUR][1000 genomes]
rs2455467	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2457222	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs246966	0.81[JPT][hapmap]
rs32654	0.81[CEU][hapmap]
rs3733855	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs455991	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4895369	0.81[CEU][hapmap]
rs6888436	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6888463	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6893184	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7721752	0.96[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs924623	0.88[CEU][hapmap];0.97[TSI][hapmap];0.91[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

No data

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	chr5:118722800-118731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:118723000-118734800	Weak transcription	Gastric	stomach
8	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
9	chr5:118723800-118732400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:118724200-118734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:118724600-118733000	Weak transcription	Liver	Liver
12	chr5:118725000-118733400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:118725000-118733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:118725000-118735600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:118725400-118734800	Weak transcription	Esophagus	oesophagus
16	chr5:118725400-118734800	Weak transcription	Left Ventricle	heart
17	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:118725400-118734800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:118725400-118736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:118725600-118732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:118725600-118733000	Weak transcription	NHLF	lung
23	chr5:118725600-118734600	Weak transcription	Fetal Kidney	kidney
24	chr5:118725600-118735800	Weak transcription	Aorta	Aorta
25	chr5:118725600-118737800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:118725800-118732200	Weak transcription	Adipose Nuclei	Adipose
27	chr5:118725800-118733000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:118725800-118733600	Weak transcription	Fetal Lung	lung
29	chr5:118725800-118734800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:118725800-118737800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:118725800-118737800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:118725800-118737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:118726000-118733600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:118726000-118736000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:118727000-118738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:118727400-118735800	Weak transcription	Fetal Intestine Small	intestine
38	chr5:118727800-118731400	Strong transcription	Dnd41	blood
39	chr5:118728000-118731800	Strong transcription	Primary T cells from cord blood	blood
40	chr5:118728200-118731400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr5:118728400-118731800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:118728400-118732200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:118728400-118732200	Strong transcription	Fetal Thymus	thymus
44	chr5:118728600-118732400	Genic enhancers	Primary B cells from cord blood	blood
45	chr5:118728800-118731200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:118728800-118736000	Weak transcription	Fetal Stomach	stomach
47	chr5:118729000-118738600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:118729200-118734800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:118729400-118732800	Weak transcription	A549	lung
50	chr5:118729400-118733000	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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