Variant report

Variant	rs57591764
Chromosome Location	chr5:52190830-52190831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52176416..52178314-chr5:52190502..52193136,2	K562	blood:
2	chr5:52190470..52192268-chr5:52193603..52195297,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16880415	0.93[AFR][1000 genomes]
rs16880427	0.93[AFR][1000 genomes]
rs59689197	1.00[AFR][1000 genomes]
rs73106343	0.93[AFR][1000 genomes]
rs73106347	0.93[AFR][1000 genomes]
rs73108322	0.86[AFR][1000 genomes]
rs73108325	1.00[AFR][1000 genomes]
rs7714310	1.00[AFR][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52159800-52191800	Weak transcription	Pancreas	Pancrea
3	chr5:52161000-52191000	Weak transcription	Ovary	ovary
4	chr5:52163600-52191000	Weak transcription	Right Ventricle	heart
5	chr5:52166800-52191800	Weak transcription	Lung	lung
6	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
7	chr5:52168600-52191800	Weak transcription	Gastric	stomach
8	chr5:52171600-52191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:52174600-52210600	Weak transcription	Hela-S3	cervix
10	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
11	chr5:52181800-52191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:52183600-52199000	Weak transcription	Colonic Mucosa	Colon
13	chr5:52184000-52191800	Weak transcription	Left Ventricle	heart
14	chr5:52184200-52191800	Weak transcription	Esophagus	oesophagus
15	chr5:52184800-52191000	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:52185600-52191000	Weak transcription	Aorta	Aorta
17	chr5:52186800-52191800	Weak transcription	Dnd41	blood
18	chr5:52188000-52191600	Enhancers	Brain Angular Gyrus	brain
19	chr5:52188000-52192000	Enhancers	Brain Hippocampus Middle	brain
20	chr5:52188000-52193200	Enhancers	Fetal Lung	lung
21	chr5:52188000-52193600	Enhancers	NHLF	lung
22	chr5:52188200-52191800	Enhancers	Colon Smooth Muscle	Colon
23	chr5:52188200-52192000	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:52188200-52193400	Enhancers	Osteobl	bone
25	chr5:52188400-52192000	Enhancers	Brain Anterior Caudate	brain
26	chr5:52188400-52192200	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:52188400-52193000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:52188800-52191000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:52188800-52191600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:52188800-52191800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:52189000-52191000	Weak transcription	Right Atrium	heart
34	chr5:52189000-52191800	Enhancers	Fetal Stomach	stomach
35	chr5:52189200-52193000	Weak transcription	Fetal Intestine Large	intestine
36	chr5:52189200-52193200	Enhancers	Adipose Nuclei	Adipose
37	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
38	chr5:52189400-52193200	Enhancers	HSMM	muscle
39	chr5:52189600-52191200	Enhancers	Brain Substantia Nigra	brain
40	chr5:52189800-52191600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:52189800-52210800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:52190000-52191000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:52190000-52191000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:52190000-52191800	Enhancers	Stomach Smooth Muscle	stomach
45	chr5:52190000-52192200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:52190000-52197600	Weak transcription	Psoas Muscle	Psoas
47	chr5:52190200-52191000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:52190200-52191400	Weak transcription	Liver	Liver
49	chr5:52190200-52192600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:52190200-52193600	Enhancers	NHDF-Ad	bronchial

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