Variant report

Variant	rs11730896
Chromosome Location	chr4:76674038-76674039
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10016782	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10028291	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10031616	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033315	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212995	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097112	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097113	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097122	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11728073	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11932454	0.81[EUR][1000 genomes]
rs11938067	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11943497	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505149	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102733	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13110602	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133144	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13133472	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134891	0.88[AMR][1000 genomes]
rs13145290	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147276	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2047989	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271472	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869175	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2904018	0.84[ASN][1000 genomes]
rs3796481	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446339	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4859404	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4859405	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859408	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859409	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859549	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859552	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859554	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859555	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664143	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62318556	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6531901	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829993	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6843016	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6845147	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846575	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6847333	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661037	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7665517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905954	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987561	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
3	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:76652000-76675200	Weak transcription	Fetal Thymus	thymus
5	chr4:76652000-76675400	Weak transcription	Placenta	Placenta
6	chr4:76652000-76675600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:76652000-76675600	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:76652000-76675600	Weak transcription	Spleen	Spleen
9	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:76652200-76675600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:76652400-76675200	Weak transcription	Fetal Kidney	kidney
12	chr4:76652400-76675600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:76652400-76675800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:76652400-76675800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
16	chr4:76652600-76675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:76652600-76675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:76652800-76675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:76652800-76675600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:76652800-76675600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:76653200-76675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:76653200-76675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:76653200-76675400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:76653200-76675600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:76653200-76675600	Weak transcription	Dnd41	blood
26	chr4:76653800-76675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:76654800-76674600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:76654800-76675200	Weak transcription	Pancreas	Pancrea
29	chr4:76654800-76675400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:76654800-76675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:76655000-76675000	Weak transcription	Small Intestine	intestine
32	chr4:76655200-76675600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:76655400-76675200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:76655600-76675600	Weak transcription	HSMMtube	muscle
35	chr4:76656200-76675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:76657600-76675400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:76659800-76675600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:76659800-76679000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:76661000-76675400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:76661000-76675800	Weak transcription	Thymus	Thymus
41	chr4:76661200-76675400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:76661800-76675600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:76662400-76675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:76662600-76675200	Weak transcription	Adipose Nuclei	Adipose
45	chr4:76662600-76675400	Weak transcription	Liver	Liver
46	chr4:76662600-76675600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:76662800-76675600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:76662800-76675600	Weak transcription	Brain Anterior Caudate	brain
49	chr4:76664400-76674600	Weak transcription	Fetal Stomach	stomach
50	chr4:76664400-76675200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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