Variant report

Variant	rs255650
Chromosome Location	chr5:58606700-58606701
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58605150..58607520-chr5:58610737..58612919,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1457146	0.80[EUR][1000 genomes]
rs171729	0.81[EUR][1000 genomes]
rs255633	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs255649	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255655	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs256750	0.92[CEU][hapmap]
rs256752	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs27170	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs37353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40444	0.92[CEU][hapmap];0.82[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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
2	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
3	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
5	chr5:58595600-58609000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:58597000-58607600	Weak transcription	Psoas Muscle	Psoas
7	chr5:58598000-58607800	Weak transcription	Fetal Heart	heart
8	chr5:58598000-58608600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58598000-58612600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:58598000-58612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:58598000-58612800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:58604800-58607000	Genic enhancers	A549	lung
13	chr5:58604800-58607800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:58605000-58606800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:58605000-58612800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:58605200-58606800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:58605200-58612800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:58605200-58613000	Weak transcription	Fetal Brain Female	brain
19	chr5:58605600-58611200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:58605800-58612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:58606000-58607000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr5:58606000-58612600	Weak transcription	Fetal Stomach	stomach
23	chr5:58606600-58606800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:58606600-58607000	Enhancers	Fetal Intestine Small	intestine
25	chr5:58606600-58607400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:58606600-58609600	Enhancers	Hela-S3	cervix

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