Variant report

Variant	rs17548938
Chromosome Location	chr7:50807425-50807426
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	chr7:50804663..50812652-chr7:50812790..50817860,10	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10486758	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17546879	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17547664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17547986	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237482	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286155	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4245558	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947462	0.89[AMR][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4947816	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947854	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56200772	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58198279	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60767324	0.84[EUR][1000 genomes]
rs61250449	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73116822	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116888	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116898	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118814	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118830	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118841	0.87[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73122790	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73124705	0.87[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757771	0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs757998	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7791286	0.82[CHB][hapmap]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:50798600-50822600	Weak transcription	Ovary	ovary
7	chr7:50798800-50810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:50798800-50811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
10	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:50798800-50832400	Weak transcription	HSMM	muscle
13	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
14	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:50799200-50811400	Weak transcription	Fetal Brain Female	brain
18	chr7:50800400-50811200	Weak transcription	Fetal Stomach	stomach
19	chr7:50801600-50807600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:50801600-50811400	Weak transcription	Osteobl	bone
21	chr7:50801600-50814400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:50802000-50807800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:50802000-50810600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:50802000-50811200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:50802000-50814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:50802200-50807600	Weak transcription	Right Ventricle	heart
27	chr7:50802200-50810000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:50802200-50811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:50802200-50815600	Weak transcription	Placenta	Placenta
30	chr7:50802600-50813200	Weak transcription	Hela-S3	cervix
31	chr7:50802600-50824000	Weak transcription	NH-A	brain
32	chr7:50802800-50814400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:50804600-50811600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:50806000-50807800	Enhancers	Stomach Mucosa	stomach
35	chr7:50806000-50808000	Enhancers	Gastric	stomach
36	chr7:50806000-50808000	Enhancers	HepG2	liver
37	chr7:50806000-50808200	Enhancers	Pancreas	Pancrea
38	chr7:50806200-50807600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:50806400-50807800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:50806400-50811800	Weak transcription	K562	blood
41	chr7:50806800-50808000	Enhancers	Colon Smooth Muscle	Colon
42	chr7:50807000-50807600	Enhancers	Thymus	Thymus
43	chr7:50807000-50808000	Enhancers	Duodenum Mucosa	Duodenum
44	chr7:50807000-50808000	Enhancers	Fetal Thymus	thymus
45	chr7:50807000-50808000	Enhancers	Lung	lung
46	chr7:50807000-50808000	Enhancers	Right Atrium	heart
47	chr7:50807000-50808000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:50807000-50808600	Enhancers	HUVEC	blood vessel
49	chr7:50807000-50809200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:50807200-50807600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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