Variant report

Variant	rs4947834
Chromosome Location	chr7:50814722-50814723
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	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17152083	0.86[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17546879	0.86[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17547664	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17547986	0.90[ASN][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2237482	0.86[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947462	0.93[AMR][1000 genomes]
rs4947463	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4947816	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56200772	0.86[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58198279	0.86[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61250449	0.86[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116822	0.86[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73116888	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73116898	0.86[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73118814	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73118830	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73118841	0.83[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73122790	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73124705	0.83[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs757771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757998	0.95[AMR][1000 genomes];0.90[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	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:50798600-50822600	Weak transcription	Ovary	ovary
3	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
4	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:50798800-50832400	Weak transcription	HSMM	muscle
7	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
8	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:50802200-50815600	Weak transcription	Placenta	Placenta
12	chr7:50802600-50824000	Weak transcription	NH-A	brain
13	chr7:50807600-50821800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:50807800-50821800	Weak transcription	Esophagus	oesophagus
15	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:50808000-50815400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:50808000-50815600	Weak transcription	Fetal Lung	lung
18	chr7:50808000-50816000	Weak transcription	HepG2	liver
19	chr7:50808000-50817600	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:50808000-50818400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:50808000-50818600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:50808000-50821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:50808000-50821600	Weak transcription	Gastric	stomach
24	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
26	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:50808200-50815000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:50808200-50815200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:50808200-50815400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:50808200-50818800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:50808600-50818800	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:50809000-50821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:50809400-50822200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:50810400-50815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:50810800-50821200	Weak transcription	Primary T cells from cord blood	blood
38	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:50811000-50818800	Weak transcription	Brain Substantia Nigra	brain
41	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:50811400-50816800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:50811400-50818800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:50811400-50821600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:50811600-50815000	Weak transcription	Brain Germinal Matrix	brain
46	chr7:50811600-50821000	Weak transcription	Fetal Intestine Large	intestine
47	chr7:50811800-50814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:50811800-50815000	Weak transcription	Fetal Intestine Small	intestine
49	chr7:50811800-50820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:50812000-50818200	Weak transcription	Psoas Muscle	Psoas

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