Variant report

Variant	rs6580111
Chromosome Location	chr5:154103120-154103121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154101828..154105773-chr5:154135150..154137460,3	K562	blood:
2	chr5:154101484..154103406-chr5:154106507..154110361,3	K562	blood:
3	chr5:154096853..154100003-chr5:154100252..154103501,3	K562	blood:
4	chr5:154084447..154086272-chr5:154100448..154103273,2	K562	blood:
5	chr5:154100038..154105405-chr5:154105836..154109183,6	K562	blood:

Variant related genes	Relation type
ENSG00000155506	Chromatin interaction
ENSG00000272197	Chromatin interaction
ENSG00000241187	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10039709	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10051493	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10058604	0.96[ASN][1000 genomes]
rs10073561	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1972618	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052448	0.80[EUR][1000 genomes]
rs3893695	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4117784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4958382	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4958384	0.80[EUR][1000 genomes]
rs4958385	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4958387	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4958759	0.81[EUR][1000 genomes]
rs4958761	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4958765	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4958767	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6580102	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580103	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs6580104	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580107	0.80[EUR][1000 genomes]
rs6580108	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6580109	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6580110	0.85[EUR][1000 genomes]
rs6868098	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6878543	0.80[AMR][1000 genomes]
rs749777	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7710331	0.81[EUR][1000 genomes]
rs7715775	0.80[EUR][1000 genomes]
rs7721183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7736062	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324791	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9324792	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs965235	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr5:154074200-154108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:154074200-154120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:154093400-154103400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:154093600-154103200	Weak transcription	Small Intestine	intestine
5	chr5:154094200-154103400	Weak transcription	Colonic Mucosa	Colon
6	chr5:154094400-154103400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:154094400-154103400	Weak transcription	Esophagus	oesophagus
8	chr5:154094400-154104200	Weak transcription	Aorta	Aorta
9	chr5:154094600-154103200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:154094600-154106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:154097800-154107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:154098600-154104200	Weak transcription	Right Ventricle	heart
13	chr5:154099000-154103600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:154100400-154104600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:154101000-154104200	Enhancers	HepG2	liver
16	chr5:154101200-154103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:154102000-154105200	Enhancers	Fetal Intestine Large	intestine
18	chr5:154102000-154107800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:154102200-154103200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:154102200-154103200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:154102200-154103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:154102200-154103600	Enhancers	Pancreas	Pancrea
23	chr5:154102200-154111000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:154102200-154117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:154102600-154103200	Enhancers	Liver	Liver
26	chr5:154102600-154103400	Enhancers	Fetal Heart	heart
27	chr5:154102600-154104800	Enhancers	Fetal Intestine Small	intestine
28	chr5:154102800-154103400	Enhancers	Psoas Muscle	Psoas
29	chr5:154102800-154103600	Enhancers	Gastric	stomach
30	chr5:154102800-154103600	Enhancers	K562	blood
31	chr5:154102800-154104400	Enhancers	Duodenum Mucosa	Duodenum
32	chr5:154102800-154104400	Enhancers	Stomach Mucosa	stomach
33	chr5:154102800-154104600	Enhancers	Left Ventricle	heart
34	chr5:154102800-154104600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:154102800-154105400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:154103000-154103400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:154103000-154103800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:154103000-154111000	Weak transcription	H1 Cell Line	embryonic stem cell

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