Variant report

Variant	rs37353
Chromosome Location	chr5:58612016-58612017
allele	C/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: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs255633	0.92[CEU][hapmap]
rs255647	0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs255649	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255650	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]
rs255655	0.89[CEU][hapmap]
rs256750	0.88[CEU][hapmap]
rs256752	0.85[CEU][hapmap]
rs27170	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27171	0.81[CHB][hapmap]
rs40444	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2760953	chr5:58609468-58620440	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
2	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
4	chr5:58598000-58612600	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58598000-58612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:58598000-58612800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:58605000-58612800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58605200-58612800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:58605200-58613000	Weak transcription	Fetal Brain Female	brain
10	chr5:58605800-58612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:58606000-58612600	Weak transcription	Fetal Stomach	stomach
12	chr5:58606800-58612800	Enhancers	Colon Smooth Muscle	Colon
13	chr5:58607800-58616400	Enhancers	Fetal Heart	heart
14	chr5:58608600-58612600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:58608800-58612600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:58609800-58612600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:58610000-58612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:58610000-58613800	Enhancers	Fetal Muscle Leg	muscle
19	chr5:58610200-58612200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:58610200-58612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:58610600-58613000	Enhancers	Hela-S3	cervix
22	chr5:58611200-58613800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:58611400-58613000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:58611400-58613000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:58611600-58612600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:58611600-58612600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:58611600-58612800	Weak transcription	Gastric	stomach
28	chr5:58611600-58612800	Weak transcription	A549	lung
29	chr5:58611800-58612400	Weak transcription	Right Ventricle	heart
30	chr5:58611800-58612600	Weak transcription	Colonic Mucosa	Colon
31	chr5:58611800-58612800	Weak transcription	Spleen	Spleen
32	chr5:58611800-58613600	Enhancers	HSMMtube	muscle
33	chr5:58612000-58612400	Weak transcription	Left Ventricle	heart
34	chr5:58612000-58612400	Weak transcription	Psoas Muscle	Psoas
35	chr5:58612000-58612400	Weak transcription	Right Atrium	heart

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