Variant report

Variant	rs4403011
Chromosome Location	chr4:74115116-74115117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74023196..74024938-chr4:74114235..74116444,2	K562	blood:
2	chr4:74086780..74089405-chr4:74114803..74116855,3	K562	blood:
3	chr4:74108645..74112551-chr4:74114263..74118175,3	MCF-7	breast:
4	chr4:73992431..73994769-chr4:74113758..74115831,2	K562	blood:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10938069	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12507809	1.00[YRI][hapmap];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]
rs13121823	1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1913149	1.00[YRI][hapmap]
rs1913150	1.00[AMR][1000 genomes]
rs4413377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463038	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694158	1.00[YRI][hapmap];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[YRI][hapmap];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[YRI][hapmap];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	esv1803963	chr4:74105068-74116012	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087600-74116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:74087800-74123400	Weak transcription	Gastric	stomach
6	chr4:74089000-74121400	Weak transcription	Hela-S3	cervix
7	chr4:74089200-74117600	Weak transcription	NHDF-Ad	bronchial
8	chr4:74089200-74122000	Weak transcription	Aorta	Aorta
9	chr4:74089400-74121800	Weak transcription	NHLF	lung
10	chr4:74093200-74116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:74099800-74122400	Weak transcription	Stomach Mucosa	stomach
12	chr4:74100800-74117400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:74100800-74117600	Weak transcription	Osteobl	bone
14	chr4:74100800-74119800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:74101000-74116000	Weak transcription	Spleen	Spleen
16	chr4:74101000-74117400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:74101000-74117600	Weak transcription	Brain Anterior Caudate	brain
18	chr4:74101000-74118800	Weak transcription	HSMM	muscle
19	chr4:74101000-74119600	Weak transcription	Fetal Brain Male	brain
20	chr4:74101000-74119800	Weak transcription	Fetal Lung	lung
21	chr4:74101000-74121200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:74101000-74122000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:74101000-74122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:74101000-74122600	Weak transcription	Fetal Stomach	stomach
25	chr4:74101000-74123000	Weak transcription	Placenta	Placenta
26	chr4:74101200-74116000	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:74101200-74117000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:74101200-74117800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:74101200-74117800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:74101200-74118000	Weak transcription	NH-A	brain
31	chr4:74101200-74118600	Weak transcription	HMEC	breast
32	chr4:74101200-74119000	Weak transcription	Brain Angular Gyrus	brain
33	chr4:74101200-74119400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:74101200-74122400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:74101400-74121200	Weak transcription	NHEK	skin
36	chr4:74101400-74121800	Weak transcription	Fetal Kidney	kidney
37	chr4:74102200-74122400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:74103000-74116400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:74103200-74120400	Weak transcription	Brain Germinal Matrix	brain
40	chr4:74104600-74121200	Weak transcription	A549	lung
41	chr4:74106600-74123000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:74107200-74118600	Weak transcription	HUVEC	blood vessel
43	chr4:74109000-74121200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:74109200-74116600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:74109200-74118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:74109800-74117000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:74110000-74118600	Weak transcription	Fetal Brain Female	brain
48	chr4:74110400-74118000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:74110600-74115600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:74111000-74120000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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