Variant report

Variant	rs73547626
Chromosome Location	chr19:40514108-40514109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40502336..40505480-chr19:40510582..40514287,4	MCF-7	breast:
2	chr19:40501435..40504284-chr19:40512713..40514616,2	K562	blood:
3	chr19:40501262..40504284-chr19:40510517..40514213,4	K562	blood:

Variant related genes	Relation type
ENSG00000187187	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs450095	0.87[EUR][1000 genomes]
rs55724336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59307138	1.00[EUR][1000 genomes]
rs60037732	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61655884	0.87[EUR][1000 genomes]
rs7245925	0.87[EUR][1000 genomes]
rs7249514	1.00[EUR][1000 genomes]
rs7250763	1.00[EUR][1000 genomes]
rs7252478	0.85[AFR][1000 genomes]
rs7255186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543966	1.00[EUR][1000 genomes]
rs73545987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73545999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547632	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73547672	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549848	1.00[EUR][1000 genomes]
rs73551667	0.87[EUR][1000 genomes]
rs73551692	0.87[EUR][1000 genomes]
rs8106043	0.87[EUR][1000 genomes]
rs8106753	0.87[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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
2	chr19:40503800-40514400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:40503800-40514600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:40503800-40514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:40503800-40516000	Weak transcription	Fetal Intestine Small	intestine
6	chr19:40504000-40517600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:40504000-40519600	Weak transcription	Fetal Brain Male	brain
8	chr19:40504000-40519600	Weak transcription	Hela-S3	cervix
9	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:40505000-40514600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:40510600-40515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:40511200-40515600	Strong transcription	Primary T cells from cord blood	blood
13	chr19:40511400-40517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:40511400-40518000	Strong transcription	Brain Hippocampus Middle	brain
15	chr19:40511600-40522000	ZNF genes & repeats	A549	lung
16	chr19:40511800-40514400	Strong transcription	Ovary	ovary
17	chr19:40511800-40516200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:40511800-40516400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:40511800-40518000	Strong transcription	Colon Smooth Muscle	Colon
20	chr19:40512000-40514400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:40512000-40514800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:40512000-40515400	Strong transcription	Dnd41	blood
23	chr19:40512000-40515600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:40512000-40516000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr19:40512000-40517600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:40512000-40517800	Strong transcription	Primary B cells from cord blood	blood
27	chr19:40512000-40519200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
29	chr19:40512200-40514400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr19:40512200-40514400	Strong transcription	Adipose Nuclei	Adipose
31	chr19:40512200-40514600	Strong transcription	Aorta	Aorta
32	chr19:40512200-40514800	Strong transcription	Gastric	stomach
33	chr19:40512200-40515200	Strong transcription	Brain Substantia Nigra	brain
34	chr19:40512200-40515200	Strong transcription	Pancreas	Pancrea
35	chr19:40512200-40515400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:40512200-40515400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:40512200-40515600	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:40512200-40516400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr19:40512200-40516600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:40512200-40516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:40512200-40517600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:40512200-40517800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr19:40512200-40518600	Strong transcription	Brain Anterior Caudate	brain
44	chr19:40512400-40515800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:40512400-40516200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:40512400-40516600	Strong transcription	Fetal Lung	lung
47	chr19:40512600-40514600	Weak transcription	Fetal Heart	heart
48	chr19:40512600-40515800	Weak transcription	NHEK	skin
49	chr19:40512600-40516000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:40512600-40517400	Weak transcription	NH-A	brain

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