Variant report

Variant	rs73627608
Chromosome Location	chr19:38632702-38632703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38628819..38632902-chr19:38826065..38829277,3	K562	blood:
2	chr19:38629908..38632279-chr19:38632364..38634124,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11879553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11880776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881136	0.90[AMR][1000 genomes]
rs11882737	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1654370	0.80[AMR][1000 genomes]
rs1725455	1.00[ASN][1000 genomes]
rs1725457	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35447904	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56140434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57771568	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57910731	0.90[AMR][1000 genomes]
rs58352573	0.91[AMR][1000 genomes]
rs58512019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60625383	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7255196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7257055	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7257668	0.90[AMR][1000 genomes]
rs73627606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73627652	0.90[AMR][1000 genomes]
rs73627672	0.91[AMR][1000 genomes]
rs73627675	0.91[AMR][1000 genomes]
rs73934104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100641	0.90[AMR][1000 genomes]
rs8100668	0.90[AMR][1000 genomes]
rs8101927	0.90[AMR][1000 genomes]
rs8104392	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8107346	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110434	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855616	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs855626	0.81[AFR][1000 genomes];0.80[AMR][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	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	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38591800-38642800	Weak transcription	Small Intestine	intestine
2	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
3	chr19:38610800-38643600	Weak transcription	HepG2	liver
4	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:38611600-38634400	Weak transcription	Stomach Mucosa	stomach
6	chr19:38611600-38634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:38611600-38634800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:38611600-38641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
10	chr19:38611800-38634600	Weak transcription	NH-A	brain
11	chr19:38611800-38642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
13	chr19:38613400-38633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:38613400-38634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:38613600-38634800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr19:38613800-38633000	Weak transcription	Brain Angular Gyrus	brain
17	chr19:38613800-38633000	Weak transcription	Brain Substantia Nigra	brain
18	chr19:38613800-38633400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:38613800-38635600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:38613800-38636600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:38613800-38639000	Weak transcription	Left Ventricle	heart
22	chr19:38613800-38641800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:38613800-38643200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:38613800-38652200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:38613800-38652600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:38614000-38634800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:38616000-38652600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr19:38616200-38641600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:38616600-38642000	Weak transcription	Dnd41	blood
30	chr19:38617000-38652000	Strong transcription	Fetal Intestine Small	intestine
31	chr19:38618200-38651000	Strong transcription	Fetal Intestine Large	intestine
32	chr19:38619600-38647800	Strong transcription	Fetal Stomach	stomach
33	chr19:38621000-38633800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr19:38621600-38642800	Weak transcription	NHLF	lung
35	chr19:38621800-38634000	Weak transcription	Thymus	Thymus
36	chr19:38622000-38634600	Weak transcription	Brain Germinal Matrix	brain
37	chr19:38622200-38636800	Weak transcription	Brain Anterior Caudate	brain
38	chr19:38622400-38634000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:38622600-38641800	Weak transcription	Aorta	Aorta
40	chr19:38622800-38634000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:38622800-38634600	Weak transcription	Adipose Nuclei	Adipose
42	chr19:38622800-38634800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:38623000-38635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:38623000-38642800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr19:38623200-38634400	Weak transcription	Fetal Brain Female	brain
46	chr19:38624000-38633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:38624400-38652400	Weak transcription	Fetal Thymus	thymus
48	chr19:38624600-38633400	Weak transcription	Fetal Lung	lung
49	chr19:38624800-38633200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:38626000-38643400	Weak transcription	Placenta	Placenta

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