Variant report

Variant	rs10471821
Chromosome Location	chr5:52158821-52158822
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:52158746-52158956	IMR90	lung:	n/a	n/a
2	FOS	chr5:52158796-52158944	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:52158780-52158892	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ITGA1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10041465	1.00[AMR][1000 genomes]
rs10042066	1.00[AMR][1000 genomes]
rs10051793	1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	1.00[AMR][1000 genomes]
rs10078136	1.00[AMR][1000 genomes]
rs13357745	1.00[AMR][1000 genomes]
rs13360413	1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28666730	1.00[AMR][1000 genomes]
rs28701709	1.00[AMR][1000 genomes]
rs58967333	1.00[AMR][1000 genomes]
rs59337949	1.00[AMR][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6450077	1.00[AMR][1000 genomes]
rs6882082	1.00[AMR][1000 genomes]
rs6886933	1.00[AMR][1000 genomes]
rs73108322	1.00[AMR][1000 genomes]
rs7729056	1.00[AMR][1000 genomes]
rs9291996	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1032554	chr5:52126688-52174119	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52136200-52161400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:52142200-52166400	Weak transcription	Spleen	Spleen
4	chr5:52143600-52173600	Weak transcription	Left Ventricle	heart
5	chr5:52143800-52159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:52145800-52181000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:52146800-52166000	Weak transcription	HepG2	liver
8	chr5:52150200-52159000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:52150200-52166400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:52150400-52159200	Weak transcription	Small Intestine	intestine
11	chr5:52150400-52159400	Weak transcription	Fetal Stomach	stomach
12	chr5:52150400-52159600	Weak transcription	Fetal Brain Male	brain
13	chr5:52153200-52163400	Weak transcription	Dnd41	blood
14	chr5:52153200-52166400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:52153600-52159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:52153600-52159600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:52154000-52164200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:52154200-52166400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:52155800-52159400	Weak transcription	Fetal Kidney	kidney
20	chr5:52155800-52160000	Weak transcription	HMEC	breast
21	chr5:52155800-52163600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:52156000-52159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:52156000-52159400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:52156000-52159400	Weak transcription	HSMMtube	muscle
25	chr5:52156000-52159400	Weak transcription	NHDF-Ad	bronchial
26	chr5:52156000-52159600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:52156000-52159600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:52156000-52159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:52156000-52159600	Weak transcription	NH-A	brain
30	chr5:52156000-52159600	Weak transcription	Osteobl	bone
31	chr5:52156000-52159800	Weak transcription	HSMM	muscle
32	chr5:52156000-52166400	Weak transcription	Lung	lung
33	chr5:52156000-52180400	Weak transcription	Placenta	Placenta
34	chr5:52156200-52166000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:52156800-52159400	Weak transcription	NHLF	lung
36	chr5:52157200-52159000	Strong transcription	Liver	Liver
37	chr5:52157200-52159400	Weak transcription	Fetal Lung	lung
38	chr5:52157400-52166200	Weak transcription	NHEK	skin
39	chr5:52157600-52166200	Weak transcription	Aorta	Aorta
40	chr5:52158000-52159400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:52158000-52159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:52158000-52159600	Weak transcription	Fetal Intestine Large	intestine
43	chr5:52158400-52176800	Weak transcription	Primary T cells from cord blood	blood
44	chr5:52158800-52159600	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:52158800-52159800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:52158800-52161000	Enhancers	Fetal Heart	heart
47	chr5:52158800-52161000	Enhancers	Rectal Smooth Muscle	rectum
48	chr5:52158800-52161400	Enhancers	Colon Smooth Muscle	Colon

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