Variant report

Variant	rs4637585
Chromosome Location	chr5:90185517-90185518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90183752..90186174-chr5:90676365..90680151,3	MCF-7	breast:
2	chr5:90181377..90185761-chr5:90673383..90677784,5	K562	blood:
3	chr5:90184114..90185772-chr5:90277640..90279396,2	K562	blood:
4	chr5:90180905..90184179-chr5:90184592..90187757,3	K562	blood:
5	chr5:90183905..90185761-chr5:90676284..90678383,2	K562	blood:
6	chr5:90184781..90186579-chr5:90679255..90681231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10035307	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10045202	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13155267	0.98[ASN][1000 genomes]
rs28368305	0.80[EUR][1000 genomes]
rs35381887	0.98[ASN][1000 genomes]
rs4244205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4496735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4580808	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916831	0.80[EUR][1000 genomes]
rs58729412	0.81[ASN][1000 genomes]
rs60873835	0.91[ASN][1000 genomes]
rs62374012	0.97[ASN][1000 genomes]
rs6858917	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6868618	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889986	0.81[EUR][1000 genomes]

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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90163600-90194400	Weak transcription	Pancreas	Pancrea
2	chr5:90165400-90188800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:90168200-90186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:90174600-90185600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:90179600-90190200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:90179800-90191600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:90179800-90192000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:90180600-90186600	Enhancers	Hela-S3	cervix
9	chr5:90180800-90190200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:90183200-90188600	Weak transcription	Esophagus	oesophagus
11	chr5:90183200-90192200	Weak transcription	Gastric	stomach
12	chr5:90183400-90186200	Enhancers	Liver	Liver
13	chr5:90183800-90185600	Weak transcription	Stomach Mucosa	stomach
14	chr5:90184000-90186800	Enhancers	HepG2	liver
15	chr5:90184400-90186600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:90184600-90186200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:90184800-90186600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:90184800-90186600	Enhancers	Fetal Intestine Large	intestine
19	chr5:90184800-90186600	Enhancers	Fetal Intestine Small	intestine
20	chr5:90185000-90186400	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:90185000-90226600	Weak transcription	K562	blood
22	chr5:90185200-90186200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:90185200-90186600	Enhancers	A549	lung
24	chr5:90185200-90191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:90185400-90185800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:90185400-90191200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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