Variant report

Variant	rs9311323
Chromosome Location	chr3:42601678-42601679
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	chr3:42601326..42604045-chr3:42837393..42838978,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs13064311	0.92[ASN][1000 genomes]
rs13066173	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13066333	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs168138	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2068278	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271181	0.87[ASN][1000 genomes]
rs2271184	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2271187	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2284305	0.90[ASN][1000 genomes]
rs237064	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2940407	0.94[ASN][1000 genomes]
rs3095258	0.90[ASN][1000 genomes]
rs339656	0.90[ASN][1000 genomes]
rs339720	0.84[ASN][1000 genomes]
rs339721	0.86[ASN][1000 genomes]
rs339724	0.81[ASN][1000 genomes]
rs339729	0.86[ASN][1000 genomes]
rs339735	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs342523	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs342524	0.82[ASN][1000 genomes]
rs342526	0.83[ASN][1000 genomes]
rs342534	0.87[ASN][1000 genomes]
rs342535	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs342538	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs383937	0.90[ASN][1000 genomes]
rs3888651	0.88[ASN][1000 genomes]
rs398743	0.90[ASN][1000 genomes]
rs60994254	0.88[ASN][1000 genomes]
rs612362	0.85[ASN][1000 genomes]
rs637852	0.91[ASN][1000 genomes]
rs638904	0.91[ASN][1000 genomes]
rs651180	0.90[ASN][1000 genomes]
rs654761	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs663258	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs664813	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs665206	0.90[ASN][1000 genomes]
rs704982	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs807863	0.90[ASN][1000 genomes]
rs82755	0.88[ASN][1000 genomes]
rs9311324	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9813479	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9819563	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9828279	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42587000-42602400	Weak transcription	Colonic Mucosa	Colon
2	chr3:42587400-42606800	Weak transcription	Small Intestine	intestine
3	chr3:42587800-42611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:42588000-42613000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:42588400-42613000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:42588600-42618000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:42589000-42611800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:42589200-42611000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:42589400-42610800	Weak transcription	Stomach Mucosa	stomach
10	chr3:42589400-42611000	Strong transcription	Fetal Stomach	stomach
11	chr3:42589400-42612400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:42589400-42614000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:42589600-42611200	Strong transcription	Fetal Intestine Small	intestine
14	chr3:42589600-42611800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:42589800-42610600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:42589800-42611000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:42589800-42616400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:42590000-42603800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:42590000-42611600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr3:42590000-42612600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:42590200-42611600	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:42590200-42611800	Strong transcription	Adipose Nuclei	Adipose
23	chr3:42591000-42605400	Strong transcription	Left Ventricle	heart
24	chr3:42591000-42609200	Strong transcription	Fetal Intestine Large	intestine
25	chr3:42591000-42614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:42591200-42610400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:42591200-42611800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:42591400-42611200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:42591600-42609400	Strong transcription	Primary B cells from cord blood	blood
30	chr3:42591600-42611800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:42591800-42609400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:42591800-42609400	Strong transcription	Fetal Lung	lung
33	chr3:42591800-42610600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:42592000-42611800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:42592600-42603600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:42592800-42609200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:42592800-42609200	Strong transcription	Placenta	Placenta
38	chr3:42592800-42610600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:42593200-42605000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr3:42593400-42602000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:42593400-42605200	Strong transcription	NH-A	brain
42	chr3:42593400-42611000	Strong transcription	Liver	Liver
43	chr3:42593400-42612000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr3:42593600-42611600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:42593800-42603000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:42593800-42611600	Strong transcription	Fetal Brain Female	brain
47	chr3:42594200-42603000	Strong transcription	NHDF-Ad	bronchial
48	chr3:42594200-42605200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr3:42594400-42611600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:42594600-42602800	Strong transcription	HSMM	muscle

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