Variant report

Variant	rs73630998
Chromosome Location	chr19:38416913-38416914
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	chr19:38415914..38418453-chr19:38418940..38421267,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs57172286	1.00[AMR][1000 genomes]
rs57653286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57676507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58373634	1.00[AMR][1000 genomes]
rs59656157	1.00[AMR][1000 genomes]
rs59924572	1.00[AMR][1000 genomes]
rs7249463	1.00[AMR][1000 genomes]
rs73621570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73630996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73633136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73633141	1.00[AMR][1000 genomes]
rs73633169	1.00[AMR][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
2	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:38399000-38418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
7	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
11	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:38399800-38417200	Weak transcription	Ovary	ovary
13	chr19:38399800-38421200	Weak transcription	Gastric	stomach
14	chr19:38399800-38421800	Weak transcription	Left Ventricle	heart
15	chr19:38399800-38422400	Weak transcription	Fetal Brain Female	brain
16	chr19:38399800-38422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:38400000-38422000	Weak transcription	HSMM	muscle
18	chr19:38400400-38419400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:38400400-38421800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr19:38400600-38422000	Weak transcription	HSMMtube	muscle
21	chr19:38400600-38422400	Weak transcription	HUVEC	blood vessel
22	chr19:38400800-38422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:38401000-38421600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:38401200-38421200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:38402000-38422600	Weak transcription	Fetal Brain Male	brain
26	chr19:38405200-38422600	Weak transcription	Right Ventricle	heart
27	chr19:38405600-38422800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:38406000-38417200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr19:38406000-38418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:38406000-38419400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:38406000-38422600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:38406400-38418200	Weak transcription	Fetal Heart	heart
33	chr19:38406400-38418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:38406400-38419200	Weak transcription	Colonic Mucosa	Colon
35	chr19:38407200-38417400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr19:38410200-38422200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:38410200-38422400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:38410400-38422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:38411600-38419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:38411600-38422600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:38411800-38421200	Weak transcription	NHEK	skin
42	chr19:38411800-38422200	Weak transcription	Brain Angular Gyrus	brain
43	chr19:38411800-38422200	Weak transcription	NH-A	brain
44	chr19:38411800-38422600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:38411800-38426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:38412000-38417000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:38412000-38418600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr19:38412000-38419800	Weak transcription	HepG2	liver
49	chr19:38412000-38422000	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:38412000-38422600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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