Variant report

Variant	rs6867399
Chromosome Location	chr5:52135543-52135544
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	chr5:52135037..52137310-chr5:52140806..52143262,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10038615	0.82[TSI][hapmap]
rs10513000	0.82[TSI][hapmap]
rs10513001	0.82[TSI][hapmap]
rs13360413	1.00[JPT][hapmap]
rs16880353	0.82[TSI][hapmap]
rs6886404	0.82[TSI][hapmap]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52118600-52137600	Weak transcription	Small Intestine	intestine
2	chr5:52124800-52136200	Weak transcription	Psoas Muscle	Psoas
3	chr5:52126800-52136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:52130400-52141200	Weak transcription	Ovary	ovary
5	chr5:52132400-52136000	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:52132800-52135800	Enhancers	Liver	Liver
7	chr5:52133200-52138000	Weak transcription	Spleen	Spleen
8	chr5:52133200-52138200	Enhancers	Fetal Kidney	kidney
9	chr5:52133200-52141200	Weak transcription	Left Ventricle	heart
10	chr5:52133200-52143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:52133400-52135800	Weak transcription	Brain Substantia Nigra	brain
12	chr5:52133400-52136000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:52133400-52136000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:52133400-52136000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:52133600-52136000	Weak transcription	Adipose Nuclei	Adipose
16	chr5:52133600-52136000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:52133600-52136000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:52133600-52136000	Enhancers	NH-A	brain
19	chr5:52133600-52136000	Enhancers	NHLF	lung
20	chr5:52133600-52136200	Weak transcription	HSMMtube	muscle
21	chr5:52133800-52135600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:52133800-52135800	Weak transcription	Right Atrium	heart
23	chr5:52133800-52136000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:52133800-52136000	Weak transcription	Fetal Stomach	stomach
25	chr5:52134000-52135600	Enhancers	Dnd41	blood
26	chr5:52134000-52136000	Weak transcription	Aorta	Aorta
27	chr5:52134000-52136000	Weak transcription	Fetal Lung	lung
28	chr5:52134200-52135600	Weak transcription	Brain Anterior Caudate	brain
29	chr5:52134200-52135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:52134200-52140800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:52134400-52135600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:52134400-52135800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:52134400-52136000	Weak transcription	Osteobl	bone
34	chr5:52134600-52135800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:52134600-52135800	Weak transcription	HUVEC	blood vessel
36	chr5:52134600-52140800	Weak transcription	Hela-S3	cervix
37	chr5:52134600-52141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:52135000-52135600	Weak transcription	NHDF-Ad	bronchial
39	chr5:52135000-52136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:52135000-52141200	Weak transcription	Esophagus	oesophagus
41	chr5:52135200-52136000	Enhancers	Stomach Smooth Muscle	stomach
42	chr5:52135200-52138400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:52135400-52135800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:52135400-52136000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:52135400-52136000	Enhancers	Colon Smooth Muscle	Colon

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