Variant report

Variant	rs10017829
Chromosome Location	chr4:55414027-55414028
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55412573..55415275-chr4:55417542..55419416,2	K562	blood:
2	chr4:55412343..55414208-chr4:55542565..55544089,2	K562	blood:
3	chr4:55412214..55414847-chr4:55443164..55445591,2	K562	blood:
4	chr4:55406508..55408610-chr4:55413280..55415170,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11936787	1.00[EUR][1000 genomes]
rs17084432	1.00[EUR][1000 genomes]
rs17084439	1.00[EUR][1000 genomes]
rs17084451	1.00[EUR][1000 genomes]
rs1876481	1.00[EUR][1000 genomes]
rs218274	1.00[EUR][1000 genomes]
rs218275	1.00[EUR][1000 genomes]
rs218276	1.00[EUR][1000 genomes]
rs218277	1.00[EUR][1000 genomes]
rs28415087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28513544	1.00[EUR][1000 genomes]
rs28548789	1.00[EUR][1000 genomes]
rs28753670	1.00[EUR][1000 genomes]
rs35111648	1.00[EUR][1000 genomes]
rs6815523	1.00[EUR][1000 genomes]
rs6841662	1.00[EUR][1000 genomes]
rs73155490	1.00[EUR][1000 genomes]
rs73157485	1.00[EUR][1000 genomes]
rs73159412	1.00[EUR][1000 genomes]
rs7675121	1.00[EUR][1000 genomes]
rs973924	1.00[EUR][1000 genomes]
rs9995779	1.00[EUR][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55406200-55416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:55406200-55434200	Weak transcription	Right Atrium	heart
3	chr4:55406400-55420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:55409000-55420600	Weak transcription	Ovary	ovary
5	chr4:55409800-55419000	Weak transcription	NHLF	lung
6	chr4:55410800-55415400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:55411200-55414800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:55411400-55414400	Enhancers	HMEC	breast
9	chr4:55411400-55414600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:55411600-55414600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:55411600-55415200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:55411800-55414400	Enhancers	NHDF-Ad	bronchial
13	chr4:55411800-55417600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:55413000-55414400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:55413000-55414800	Enhancers	Fetal Intestine Large	intestine
16	chr4:55413000-55415600	Enhancers	Spleen	Spleen
17	chr4:55413200-55414200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:55413200-55414400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:55413400-55414200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:55413400-55414200	Enhancers	Fetal Lung	lung
21	chr4:55413400-55414400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:55413400-55414600	Enhancers	Fetal Intestine Small	intestine
23	chr4:55413400-55416800	Enhancers	K562	blood
24	chr4:55413600-55414200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:55413600-55414200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:55413600-55414200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:55413600-55414200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:55413600-55414200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr4:55413600-55414400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:55413600-55414400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:55413600-55414400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:55413600-55414400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:55413600-55414400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:55413600-55414400	Flanking Active TSS	NHEK	skin
35	chr4:55413600-55414800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:55413600-55414800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:55413600-55415000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:55413800-55414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:55413800-55414200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:55413800-55414200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:55413800-55414200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:55413800-55414200	Enhancers	Fetal Muscle Trunk	muscle
43	chr4:55413800-55414400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:55413800-55414400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr4:55413800-55415000	Enhancers	Stomach Mucosa	stomach
46	chr4:55414000-55414200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:55414000-55414400	Enhancers	GM12878-XiMat	blood
48	chr4:55414000-55419600	Weak transcription	Lung	lung
49	chr4:55414000-55422800	Weak transcription	Esophagus	oesophagus

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