Variant report

Variant	rs2047989
Chromosome Location	chr4:76732396-76732397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10016782	0.81[EUR][1000 genomes]
rs10028291	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10031616	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10033315	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10212995	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11097112	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11097113	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11097122	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11728073	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11730896	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11938067	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11943497	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505149	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13102733	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13110602	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13133144	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13133472	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13145290	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13147276	0.81[EUR][1000 genomes]
rs2271472	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869175	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3796481	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4446339	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4859405	0.81[EUR][1000 genomes]
rs4859406	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4859408	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859409	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4859552	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4859554	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859555	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62318556	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531901	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6843016	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6845147	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6846575	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6847333	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7655464	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7661037	0.81[EUR][1000 genomes]
rs7665517	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs905954	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987561	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
3	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:76697600-76734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:76698000-76735400	Weak transcription	Small Intestine	intestine
8	chr4:76707800-76738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:76708400-76735400	Weak transcription	Right Ventricle	heart
10	chr4:76712600-76735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:76715000-76734000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:76715000-76734600	Weak transcription	Esophagus	oesophagus
13	chr4:76716000-76737000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:76718200-76735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:76720400-76737000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:76720400-76738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:76720600-76737000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr4:76720600-76737000	Strong transcription	Osteobl	bone
19	chr4:76720600-76737200	Strong transcription	Liver	Liver
20	chr4:76720800-76736600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:76720800-76736800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr4:76720800-76737000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:76720800-76737000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:76721000-76736400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:76721000-76736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:76721000-76737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:76721200-76736800	Strong transcription	Fetal Intestine Large	intestine
28	chr4:76721400-76737000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:76721400-76738200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:76721400-76738200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:76721800-76736800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:76722400-76738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:76722600-76734200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:76724000-76736800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:76724400-76736800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr4:76724800-76737200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:76724800-76738200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:76725000-76736400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:76725000-76736800	Strong transcription	Fetal Thymus	thymus
40	chr4:76725000-76736800	Strong transcription	HMEC	breast
41	chr4:76725000-76737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:76725000-76737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:76725000-76737200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:76725000-76738000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:76725000-76738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:76725000-76738200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr4:76725200-76736600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:76725200-76736800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:76725200-76737400	Strong transcription	Adipose Nuclei	Adipose
50	chr4:76725200-76738400	Strong transcription	Fetal Muscle Trunk	muscle

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