Variant report

Variant	rs73118830
Chromosome Location	chr7:50764948-50764949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50764355..50765052-chr7:51228725..51229621,2	MCF-7	breast:
2	chr7:50763398..50765594-chr7:50855405..50857428,2	K562	blood:
3	chr7:50763899..50766081-chr7:50769657..50771184,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152083	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546879	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237482	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes]
rs4947816	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56200772	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes]
rs58198279	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes]
rs60767324	0.84[EUR][1000 genomes]
rs61250449	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73116822	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116898	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118841	0.93[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122790	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124705	0.93[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757771	0.90[ASN][1000 genomes]
rs757998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:50742200-50765200	Weak transcription	NHLF	lung
3	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:50745800-50769600	Weak transcription	Gastric	stomach
5	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
6	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:50752800-50765200	Weak transcription	Fetal Intestine Large	intestine
8	chr7:50753800-50765000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
11	chr7:50755600-50765200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:50755600-50768400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:50755800-50768400	Weak transcription	A549	lung
14	chr7:50756200-50770000	Weak transcription	NHDF-Ad	bronchial
15	chr7:50756200-50779200	Weak transcription	Osteobl	bone
16	chr7:50756400-50769800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:50756400-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:50757000-50771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:50757000-50775000	Weak transcription	Psoas Muscle	Psoas
20	chr7:50757400-50765400	Weak transcription	Ovary	ovary
21	chr7:50757400-50771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:50757400-50772600	Weak transcription	Aorta	Aorta
23	chr7:50757600-50768200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:50757600-50768400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:50758800-50765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:50758800-50765200	Weak transcription	Fetal Brain Female	brain
27	chr7:50758800-50771600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
29	chr7:50759200-50768200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:50759200-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:50761400-50765200	Weak transcription	Brain Angular Gyrus	brain
32	chr7:50761600-50765000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:50761600-50765000	Weak transcription	Fetal Lung	lung
34	chr7:50761600-50765200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:50761600-50765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:50761600-50765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:50761600-50769600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:50761600-50771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:50761600-50771600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:50761800-50765000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:50761800-50765200	Weak transcription	Brain Anterior Caudate	brain
42	chr7:50761800-50766400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:50761800-50769000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:50761800-50771200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:50762000-50765200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:50762000-50765200	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:50762000-50765400	Weak transcription	Brain Germinal Matrix	brain
48	chr7:50762000-50766200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:50762000-50766600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:50762000-50769400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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