Variant report

Variant	rs7431301
Chromosome Location	chr3:24011396-24011397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11717862	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13091509	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13095392	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4131403	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4241514	0.84[EUR][1000 genomes]
rs4241515	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4241517	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4241520	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4320034	0.86[AFR][1000 genomes]
rs4321479	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4589882	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4619734	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858094	0.81[EUR][1000 genomes]
rs4858095	0.98[EUR][1000 genomes]
rs4858098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858551	0.81[EUR][1000 genomes]
rs4858553	0.81[EUR][1000 genomes]
rs4858565	0.87[EUR][1000 genomes]
rs4858567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4858569	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62253379	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6419846	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6550814	0.91[ASN][1000 genomes]
rs6550815	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6550819	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6550823	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6550824	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6764154	0.81[EUR][1000 genomes]
rs6778783	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6779476	0.98[EUR][1000 genomes]
rs6790557	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6793391	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6794922	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7371944	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7636810	0.89[ASN][1000 genomes]
rs9310725	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9845287	0.81[EUR][1000 genomes]
rs9853532	0.88[ASN][1000 genomes]
rs9879378	0.84[EUR][1000 genomes]
rs9882735	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23989200-24018000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:23989200-24020600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:23989200-24033200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:23989800-24017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:23992400-24017400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:23993600-24017800	Weak transcription	Brain Germinal Matrix	brain
7	chr3:23994000-24022800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:23996000-24012600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:23996200-24021200	Weak transcription	Small Intestine	intestine
10	chr3:23997200-24012200	Strong transcription	Liver	Liver
11	chr3:23999200-24011600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:23999800-24019600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:24000000-24020400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:24000600-24012200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:24000800-24019600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr3:24000800-24021800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:24001400-24012600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:24001600-24012000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:24002600-24017600	Weak transcription	Stomach Mucosa	stomach
20	chr3:24002600-24020200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:24003000-24012600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:24003200-24011600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:24004000-24013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:24004000-24016400	Weak transcription	Lung	lung
25	chr3:24004000-24017800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:24004000-24017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:24004000-24017800	Weak transcription	Spleen	Spleen
28	chr3:24004000-24018000	Weak transcription	Esophagus	oesophagus
29	chr3:24004000-24022600	Weak transcription	Aorta	Aorta
30	chr3:24004000-24022600	Weak transcription	Pancreas	Pancrea
31	chr3:24004000-24023400	Weak transcription	Gastric	stomach
32	chr3:24004000-24023800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr3:24004200-24022600	Weak transcription	Right Ventricle	heart
34	chr3:24005200-24022600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:24005400-24017800	Weak transcription	HSMMtube	muscle
36	chr3:24005600-24013400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:24005600-24017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:24005600-24032800	Weak transcription	NH-A	brain
39	chr3:24005800-24011400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:24005800-24012800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:24005800-24021400	Strong transcription	Placenta	Placenta
42	chr3:24006200-24011400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:24006200-24019400	Strong transcription	Primary T cells from cord blood	blood
44	chr3:24006400-24012400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:24006400-24012600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:24006800-24011400	Strong transcription	Fetal Intestine Large	intestine
47	chr3:24007800-24013800	Weak transcription	Fetal Thymus	thymus
48	chr3:24007800-24017600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:24007800-24018000	Weak transcription	Thymus	Thymus
50	chr3:24007800-24023200	Weak transcription	Colonic Mucosa	Colon

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