Variant report

Variant	rs55830753
Chromosome Location	chr7:99292222-99292223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99277038..99279946-chr7:99291489..99293393,2	K562	blood:

Variant related genes	Relation type
ENSG00000106258	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11734	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11972210	0.88[ASN][1000 genomes]
rs2293256	0.83[ASN][1000 genomes]
rs2687133	0.90[EUR][1000 genomes]
rs2687134	0.90[EUR][1000 genomes]
rs2741872	0.85[EUR][1000 genomes]
rs28365067	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3528	0.83[ASN][1000 genomes]
rs41258334	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41279866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45461000	0.83[ASN][1000 genomes]
rs45527841	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45532337	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45593341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646461	0.95[EUR][1000 genomes]
rs55942267	0.83[ASN][1000 genomes]
rs56167514	0.88[ASN][1000 genomes]
rs57367781	0.88[ASN][1000 genomes]
rs57830676	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649180	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59240302	0.88[ASN][1000 genomes]
rs59574285	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59672032	0.83[ASN][1000 genomes]
rs6956305	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6958669	0.82[AFR][1000 genomes]
rs6974831	0.88[ASN][1000 genomes]
rs6976017	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6977165	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72494455	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73401507	0.83[ASN][1000 genomes]
rs73401510	0.83[ASN][1000 genomes]
rs73401516	0.83[ASN][1000 genomes]
rs73403247	0.88[ASN][1000 genomes]
rs73403272	0.88[ASN][1000 genomes]
rs73403286	0.88[ASN][1000 genomes]
rs73403290	0.88[ASN][1000 genomes]
rs73405247	0.88[ASN][1000 genomes]
rs73711293	0.88[ASN][1000 genomes]
rs73711294	0.88[ASN][1000 genomes]
rs73713507	0.88[ASN][1000 genomes]
rs73713531	0.94[ASN][1000 genomes]
rs73713580	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73713594	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73713595	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7794068	0.88[ASN][1000 genomes]
rs7805661	0.88[ASN][1000 genomes]
rs7806754	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:99277000-99295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:99290600-99293200	Enhancers	Fetal Intestine Large	intestine
3	chr7:99290600-99293600	Enhancers	Fetal Intestine Small	intestine
4	chr7:99290800-99292400	Enhancers	Stomach Mucosa	stomach
5	chr7:99290800-99292400	Flanking Active TSS	HepG2	liver
6	chr7:99290800-99293000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:99291000-99292400	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:99291000-99292400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:99291400-99292400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:99291400-99292400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:99291400-99292600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:99291400-99293000	Weak transcription	Gastric	stomach
13	chr7:99291400-99297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:99291400-99297600	Weak transcription	Esophagus	oesophagus
15	chr7:99291400-99298800	Weak transcription	Aorta	Aorta
16	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
17	chr7:99291600-99294600	Weak transcription	Fetal Thymus	thymus
18	chr7:99291600-99295600	Weak transcription	Pancreas	Pancrea
19	chr7:99291800-99292800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:99291800-99293200	Weak transcription	Fetal Lung	lung
21	chr7:99292200-99292400	Active TSS	A549	lung
22	chr7:99292200-99292800	Flanking Active TSS	Liver	Liver
23	chr7:99292200-99294600	Enhancers	K562	blood
24	chr7:99292200-99296200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:99292200-99296200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:99292200-99297000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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