Variant report

Variant	rs73860000
Chromosome Location	chr4:152026222-152026223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10005764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11099784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027541	1.00[EUR][1000 genomes]
rs28399915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28566074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644282	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28658039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28836884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58001315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60001201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60661732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812606	1.00[AMR][1000 genomes]
rs6820298	1.00[EUR][1000 genomes]
rs6856037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967593	1.00[EUR][1000 genomes]
rs73859998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7659047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
26	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
27	nsv964104	chr4:152022129-152028885	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152022000-152026400	Weak transcription	Esophagus	oesophagus
2	chr4:152022400-152029800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr4:152022600-152028400	Strong transcription	Left Ventricle	heart
4	chr4:152022800-152026400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:152022800-152027000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:152022800-152028600	Strong transcription	Thymus	Thymus
7	chr4:152022800-152029200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:152022800-152029200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr4:152022800-152029200	Strong transcription	Fetal Intestine Large	intestine
10	chr4:152022800-152029200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr4:152022800-152029200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr4:152022800-152029200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr4:152022800-152029400	Strong transcription	Placenta	Placenta
14	chr4:152022800-152029600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:152022800-152029800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:152022800-152029800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:152022800-152031800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:152022800-152031800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:152022800-152032000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:152022800-152034400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:152022800-152035800	Weak transcription	Right Atrium	heart
22	chr4:152022800-152069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:152023000-152027800	Strong transcription	Colonic Mucosa	Colon
24	chr4:152023000-152028800	Strong transcription	Colon Smooth Muscle	Colon
25	chr4:152023000-152029000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:152023000-152029200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr4:152023000-152029200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:152023000-152029600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:152023000-152029800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:152023200-152026600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:152023200-152027200	Strong transcription	Pancreas	Pancrea
32	chr4:152023200-152028000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:152023200-152028600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr4:152023200-152028600	Strong transcription	Lung	lung
35	chr4:152023200-152029200	Strong transcription	HSMM	muscle
36	chr4:152023200-152029600	Strong transcription	Ovary	ovary
37	chr4:152023200-152029600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:152023200-152029800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr4:152023200-152029800	Strong transcription	Fetal Muscle Leg	muscle
40	chr4:152023200-152034600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr4:152023200-152035000	Strong transcription	Fetal Thymus	thymus
42	chr4:152023200-152035600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:152023400-152027200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:152023400-152029200	Strong transcription	Adipose Nuclei	Adipose
45	chr4:152023400-152029800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:152023600-152027000	Strong transcription	Fetal Kidney	kidney
47	chr4:152023600-152028600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:152023600-152028600	Strong transcription	Brain Substantia Nigra	brain
49	chr4:152023600-152029200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:152023600-152029200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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