Variant report

Variant	rs13121823
Chromosome Location	chr4:74077947-74077948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10938069	1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12507809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12647948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12649635	1.00[AMR][1000 genomes]
rs1913150	1.00[AMR][1000 genomes]
rs4403011	1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4413377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56349598	1.00[AMR][1000 genomes]
rs57705126	1.00[AMR][1000 genomes]
rs61020873	1.00[AMR][1000 genomes]
rs61741433	1.00[AMR][1000 genomes]
rs6446915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446916	1.00[AMR][1000 genomes]
rs6446918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6813601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822576	1.00[AMR][1000 genomes]
rs6824747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6855107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7377358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657169	1.00[AMR][1000 genomes]
rs9993141	1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv879487	chr4:74050725-74090730	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
12	nsv980139	chr4:74077631-74078131	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
2	chr4:74043200-74088200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:74044000-74078600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:74044400-74081400	Weak transcription	Dnd41	blood
5	chr4:74046800-74087400	Weak transcription	Hela-S3	cervix
6	chr4:74047000-74087400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:74047000-74087600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:74049000-74088200	Weak transcription	HepG2	liver
9	chr4:74056000-74088200	Weak transcription	Fetal Stomach	stomach
10	chr4:74056000-74089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:74059600-74087400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
14	chr4:74059800-74084600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:74060000-74079600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:74063000-74079400	Weak transcription	HSMM	muscle
17	chr4:74064600-74086600	Weak transcription	Fetal Kidney	kidney
18	chr4:74065600-74079000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:74066200-74085800	Weak transcription	Brain Angular Gyrus	brain
20	chr4:74066200-74087200	Weak transcription	NHLF	lung
21	chr4:74067000-74087200	Weak transcription	Liver	Liver
22	chr4:74067600-74079400	Weak transcription	A549	lung
23	chr4:74068000-74087600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:74068000-74087600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:74068400-74078800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:74068600-74087400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:74068800-74087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:74069800-74082600	Weak transcription	Primary B cells from cord blood	blood
29	chr4:74070000-74078800	Weak transcription	Fetal Thymus	thymus
30	chr4:74070000-74087600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:74070000-74088200	Weak transcription	Thymus	Thymus
32	chr4:74070400-74078400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:74071000-74085200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:74071600-74087000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:74072200-74087400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr4:74072400-74087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:74072600-74079600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:74072600-74086600	Weak transcription	Fetal Lung	lung
39	chr4:74072800-74078400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:74072800-74088200	Weak transcription	Placenta	Placenta
41	chr4:74073000-74079800	Weak transcription	Fetal Heart	heart
42	chr4:74073600-74087000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:74074200-74078800	Weak transcription	K562	blood
44	chr4:74074400-74085200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:74074600-74078800	Weak transcription	HUVEC	blood vessel
46	chr4:74074600-74079800	Weak transcription	NH-A	brain
47	chr4:74074600-74086400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:74074800-74078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:74074800-74078800	Weak transcription	HMEC	breast
50	chr4:74074800-74079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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