Variant report

Variant	rs73556279
Chromosome Location	chr19:44557375-44557376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44555396..44557599-chr19:44598429..44600981,2	MCF-7	breast:
2	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:
3	chr19:44487777..44490285-chr19:44555817..44558004,3	MCF-7	breast:
4	chr19:44555737..44557669-chr19:44596681..44600019,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204920	Chromatin interaction
ENSG00000186026	Chromatin interaction
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10164312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10164320	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10409475	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11881355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883048	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11883052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12983129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs16976891	1.00[EUR][1000 genomes]
rs16976894	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57956437	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[EUR][1000 genomes]
rs60064087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558215	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558264	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101607	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44555000-44557400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:44555000-44557600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:44555200-44557600	Active TSS	Fetal Intestine Small	intestine
4	chr19:44555200-44557600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:44555400-44557400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44555800-44557400	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:44556400-44557400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:44556600-44557400	Flanking Active TSS	Liver	Liver
9	chr19:44556600-44557400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr19:44556600-44557400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr19:44556600-44557400	Enhancers	Small Intestine	intestine
12	chr19:44556600-44557400	Flanking Active TSS	Dnd41	blood
13	chr19:44556600-44557600	Enhancers	Spleen	Spleen
14	chr19:44556600-44559400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:44556600-44564600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:44556800-44557400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr19:44556800-44557400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:44556800-44557400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:44556800-44557600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr19:44557000-44557400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr19:44557000-44557400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr19:44557000-44557400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:44557000-44557400	Enhancers	Brain Cingulate Gyrus	brain
24	chr19:44557000-44557400	Active TSS	Brain Hippocampus Middle	brain
25	chr19:44557000-44557400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr19:44557000-44557400	Enhancers	Fetal Stomach	stomach
27	chr19:44557000-44557400	Enhancers	Lung	lung
28	chr19:44557000-44557400	Enhancers	Ovary	ovary
29	chr19:44557000-44557400	Active TSS	Right Ventricle	heart
30	chr19:44557000-44557400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:44557000-44557400	Enhancers	NH-A	brain
32	chr19:44557000-44557600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr19:44557000-44557600	Enhancers	Colon Smooth Muscle	Colon
34	chr19:44557000-44557600	Enhancers	Esophagus	oesophagus
35	chr19:44557000-44557600	Enhancers	Fetal Muscle Leg	muscle
36	chr19:44557000-44557600	Enhancers	Left Ventricle	heart
37	chr19:44557000-44557600	Enhancers	Pancreas	Pancrea
38	chr19:44557000-44557600	Enhancers	Right Atrium	heart
39	chr19:44557000-44558600	Weak transcription	A549	lung
40	chr19:44557000-44558800	Weak transcription	Primary B cells from cord blood	blood
41	chr19:44557000-44558800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:44557000-44558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr19:44557000-44558800	Weak transcription	Stomach Mucosa	stomach
44	chr19:44557000-44558800	Weak transcription	Osteobl	bone
45	chr19:44557000-44559000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr19:44557000-44559200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:44557000-44559200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:44557000-44559600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:44557000-44559800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:44557000-44560000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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