Variant report

Variant	rs73035922
Chromosome Location	chr19:44489970-44489971
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	chr19:44486769..44491037-chr19:44505585..44508395,4	MCF-7	breast:
2	chr19:44487777..44490285-chr19:44555817..44558004,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178386	Chromatin interaction
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10164273	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10164282	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11666551	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11668687	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11669568	0.94[EUR][1000 genomes]
rs11669702	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11670342	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11670772	0.95[EUR][1000 genomes]
rs11671384	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11672879	0.91[EUR][1000 genomes]
rs11673170	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12185486	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2284242	0.89[ASN][1000 genomes]
rs36044624	0.96[EUR][1000 genomes]
rs365745	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs366111	0.96[ASN][1000 genomes]
rs367358	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs380242	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs392160	0.81[EUR][1000 genomes]
rs425200	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs436788	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs437058	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs437067	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs441794	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs442679	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs452238	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs454218	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs458647	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs460071	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs462417	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55750317	0.95[EUR][1000 genomes]
rs58591332	0.88[EUR][1000 genomes]
rs612663	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61734609	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73038560	0.89[ASN][1000 genomes]
rs73038602	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73050193	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73050195	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73051806	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73051810	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73051815	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73051825	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73051828	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489000-44490000	Enhancers	Spleen	Spleen
2	chr19:44489000-44493600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:44489200-44490000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr19:44489200-44490000	Weak transcription	Fetal Kidney	kidney
5	chr19:44489200-44490000	Enhancers	Lung	lung
6	chr19:44489200-44490000	Enhancers	Right Ventricle	heart
7	chr19:44489200-44490200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:44489200-44490200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:44489200-44490200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:44489200-44490200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:44489200-44490200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr19:44489200-44490200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:44489200-44490200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:44489200-44490200	Enhancers	Fetal Brain Male	brain
15	chr19:44489200-44490200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr19:44489200-44490400	Enhancers	Fetal Heart	heart
17	chr19:44489200-44491600	Weak transcription	Aorta	Aorta
18	chr19:44489200-44492400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:44489200-44492400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:44489200-44492600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:44489200-44492600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:44489200-44492600	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:44489200-44492600	Weak transcription	Psoas Muscle	Psoas
24	chr19:44489200-44493000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:44489200-44493200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:44489200-44493200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:44489200-44493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:44489200-44493400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:44489200-44493400	Weak transcription	Brain Angular Gyrus	brain
30	chr19:44489200-44493400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:44489200-44493600	Weak transcription	Colonic Mucosa	Colon
32	chr19:44489200-44494600	Weak transcription	Gastric	stomach
33	chr19:44489200-44494600	Weak transcription	NHLF	lung
34	chr19:44489200-44496000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:44489200-44496000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:44489200-44496000	Weak transcription	Small Intestine	intestine
37	chr19:44489200-44496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:44489200-44500400	Weak transcription	HUVEC	blood vessel
39	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
41	chr19:44489400-44490000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:44489400-44490000	Active TSS	Adipose Nuclei	Adipose
43	chr19:44489400-44490000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr19:44489400-44490000	Enhancers	Fetal Muscle Trunk	muscle
45	chr19:44489400-44490200	Enhancers	GM12878-XiMat	blood
46	chr19:44489400-44491000	Weak transcription	Fetal Lung	lung
47	chr19:44489400-44491800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:44489400-44492000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:44489400-44492000	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:44489400-44492200	Weak transcription	Rectal Mucosa Donor 29	rectum

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