Variant report

Variant	rs516038
Chromosome Location	chr7:16639151-16639152
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	chr7:16637135..16639582-chr7:16641679..16644005,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4719472	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4721517	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476489	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481026	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs481543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs503157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504927	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs506640	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs506875	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511938	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs514114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517203	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs541797	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563542	0.84[ASN][1000 genomes]
rs568211	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv887758	chr7:16632561-16668034	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16624000-16645600	Weak transcription	Gastric	stomach
2	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:16627800-16639400	Weak transcription	Brain Germinal Matrix	brain
4	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
5	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
6	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:16629600-16642400	Weak transcription	Fetal Brain Male	brain
8	chr7:16630400-16640600	Weak transcription	A549	lung
9	chr7:16630400-16643000	Weak transcription	HUVEC	blood vessel
10	chr7:16630600-16639400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:16630600-16640800	Weak transcription	Fetal Heart	heart
12	chr7:16630800-16643000	Weak transcription	Thymus	Thymus
13	chr7:16632200-16640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:16632400-16639200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:16632600-16639400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:16632600-16643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:16634200-16639400	Weak transcription	NH-A	brain
18	chr7:16634200-16640200	Weak transcription	NHLF	lung
19	chr7:16634200-16642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:16634200-16649600	Weak transcription	Hela-S3	cervix
21	chr7:16634400-16639600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:16634400-16640200	Weak transcription	Pancreas	Pancrea
23	chr7:16634600-16639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:16634800-16639400	Weak transcription	Osteobl	bone
25	chr7:16635600-16654800	Weak transcription	Spleen	Spleen
26	chr7:16636200-16639600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:16636200-16639600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:16636200-16649400	Weak transcription	Small Intestine	intestine
29	chr7:16636400-16640200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:16636400-16642200	Weak transcription	Esophagus	oesophagus
31	chr7:16636400-16682600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:16636600-16639400	Weak transcription	Fetal Lung	lung
33	chr7:16636600-16639600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:16636600-16640000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:16636600-16640200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:16636600-16642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:16636600-16648800	Weak transcription	HMEC	breast
38	chr7:16636800-16640200	Weak transcription	NHDF-Ad	bronchial
39	chr7:16636800-16641800	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:16637000-16640000	Weak transcription	Primary B cells from cord blood	blood
41	chr7:16637200-16643200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:16637400-16639600	Weak transcription	Brain Substantia Nigra	brain
43	chr7:16637400-16640200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:16637400-16668400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:16637600-16640400	Enhancers	Stomach Mucosa	stomach
46	chr7:16637600-16644800	Strong transcription	Dnd41	blood
47	chr7:16637600-16644800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:16637800-16639400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:16637800-16639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:16637800-16639600	Weak transcription	Brain Anterior Caudate	brain

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