Variant report

Variant	rs9291996
Chromosome Location	chr5:52141605-52141606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52135037..52137310-chr5:52140806..52143262,2	K562	blood:

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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051793	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360413	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28666730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28701709	1.00[AFR][1000 genomes];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]

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52133200-52143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:52135800-52145400	Weak transcription	Liver	Liver
3	chr5:52136200-52161400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:52136400-52141800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:52139000-52144200	Enhancers	Colon Smooth Muscle	Colon
6	chr5:52139400-52141800	Weak transcription	Spleen	Spleen
7	chr5:52139400-52142800	Enhancers	Dnd41	blood
8	chr5:52139400-52144200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:52140000-52142800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:52140000-52142800	Enhancers	Fetal Kidney	kidney
11	chr5:52140000-52142800	Enhancers	Fetal Lung	lung
12	chr5:52140200-52141800	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:52140200-52142800	Enhancers	NHLF	lung
14	chr5:52140600-52142600	Enhancers	Fetal Stomach	stomach
15	chr5:52140600-52142800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:52140800-52144200	Enhancers	NHDF-Ad	bronchial
17	chr5:52141000-52142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:52141000-52142000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:52141000-52142400	Weak transcription	NH-A	brain
20	chr5:52141000-52142800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:52141000-52146000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:52141000-52151400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:52141200-52141800	Weak transcription	HSMM	muscle
24	chr5:52141200-52142000	Enhancers	Aorta	Aorta
25	chr5:52141200-52142000	Enhancers	Fetal Muscle Trunk	muscle
26	chr5:52141200-52142200	Enhancers	Fetal Thymus	thymus
27	chr5:52141200-52142200	Enhancers	Left Ventricle	heart
28	chr5:52141200-52142400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:52141400-52141800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:52141400-52141800	Weak transcription	Small Intestine	intestine
31	chr5:52141400-52142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:52141400-52142400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:52141400-52142400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:52141400-52142600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:52141400-52149800	Weak transcription	Right Atrium	heart
36	chr5:52141400-52151600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:52141400-52152800	Weak transcription	Adipose Nuclei	Adipose
38	chr5:52141600-52143000	Enhancers	Rectal Smooth Muscle	rectum

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