Variant report

Variant	rs73118841
Chromosome Location	chr7:50772514-50772515
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	chr7:50771946..50774688-chr7:50777766..50780192,2	K562	blood:
2	chr7:50771946..50774257-chr7:50776696..50780294,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10486758	0.93[ASN][1000 genomes]
rs12538863	0.87[ASN][1000 genomes]
rs17152083	0.90[ASN][1000 genomes]
rs17449280	0.90[ASN][1000 genomes]
rs17450294	0.93[ASN][1000 genomes]
rs17546879	0.90[ASN][1000 genomes]
rs17547506	0.93[ASN][1000 genomes]
rs17547664	0.93[ASN][1000 genomes]
rs17547986	0.93[ASN][1000 genomes]
rs17548938	0.87[ASN][1000 genomes]
rs2237482	0.90[ASN][1000 genomes]
rs2286155	0.83[ASN][1000 genomes]
rs4245558	0.87[ASN][1000 genomes]
rs4947816	0.93[ASN][1000 genomes]
rs4947832	0.87[ASN][1000 genomes]
rs4947834	0.83[ASN][1000 genomes]
rs4947844	0.83[ASN][1000 genomes]
rs4947854	0.83[ASN][1000 genomes]
rs56118724	0.84[ASN][1000 genomes]
rs56200772	0.90[ASN][1000 genomes]
rs58198279	0.90[ASN][1000 genomes]
rs61250449	0.90[ASN][1000 genomes]
rs73113830	0.87[ASN][1000 genomes]
rs73113860	0.83[ASN][1000 genomes]
rs73113863	0.83[ASN][1000 genomes]
rs73116822	0.90[ASN][1000 genomes]
rs73116823	0.90[ASN][1000 genomes]
rs73116829	0.90[ASN][1000 genomes]
rs73116888	0.90[ASN][1000 genomes]
rs73116890	0.90[ASN][1000 genomes]
rs73116898	0.90[ASN][1000 genomes]
rs73118808	0.90[ASN][1000 genomes]
rs73118814	0.90[ASN][1000 genomes]
rs73118816	0.93[ASN][1000 genomes]
rs73118830	0.93[ASN][1000 genomes]
rs73118836	0.93[ASN][1000 genomes]
rs73122773	0.93[ASN][1000 genomes]
rs73122790	0.93[ASN][1000 genomes]
rs73122793	0.93[ASN][1000 genomes]
rs73122798	0.93[ASN][1000 genomes]
rs73124705	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124711	0.93[ASN][1000 genomes]
rs73124720	0.87[ASN][1000 genomes]
rs757771	0.83[ASN][1000 genomes]
rs757998	0.93[ASN][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	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	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
3	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
4	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
5	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
4	chr7:50756200-50779200	Weak transcription	Osteobl	bone
5	chr7:50757000-50775000	Weak transcription	Psoas Muscle	Psoas
6	chr7:50757400-50772600	Weak transcription	Aorta	Aorta
7	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
8	chr7:50762200-50772800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:50764000-50778800	Weak transcription	HSMM	muscle
11	chr7:50765400-50776800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:50765800-50773400	Weak transcription	Fetal Intestine Large	intestine
13	chr7:50765800-50776800	Weak transcription	Brain Angular Gyrus	brain
14	chr7:50765800-50776800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:50765800-50776800	Weak transcription	Fetal Intestine Small	intestine
16	chr7:50765800-50777000	Weak transcription	Fetal Stomach	stomach
17	chr7:50766200-50777600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:50766400-50774600	Weak transcription	NHLF	lung
19	chr7:50766400-50776800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:50766400-50779800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
23	chr7:50766600-50779000	Weak transcription	Fetal Lung	lung
24	chr7:50766800-50774000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:50768000-50773000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:50768200-50773000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:50768600-50776600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:50769000-50773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:50770200-50774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:50770200-50776800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:50770400-50773400	Weak transcription	A549	lung
32	chr7:50770400-50773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:50770400-50774000	Weak transcription	Adipose Nuclei	Adipose
34	chr7:50770400-50774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:50770400-50774400	Weak transcription	Placenta	Placenta
36	chr7:50770400-50774400	Weak transcription	Left Ventricle	heart
37	chr7:50770400-50774400	Weak transcription	Right Ventricle	heart
38	chr7:50770400-50775400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:50770400-50776000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:50770400-50776000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:50770400-50776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:50770400-50776800	Weak transcription	Gastric	stomach
43	chr7:50770400-50777000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:50770400-50778000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:50770400-50778000	Weak transcription	Spleen	Spleen
46	chr7:50770400-50778800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:50770400-50779000	Weak transcription	Ovary	ovary
48	chr7:50770600-50773800	Weak transcription	Hela-S3	cervix
49	chr7:50770600-50779200	Weak transcription	NH-A	brain
50	chr7:50770600-50779200	Weak transcription	NHDF-Ad	bronchial

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