Variant report

Variant	rs73613287
Chromosome Location	chr19:56196318-56196319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
2	chr19:56194595..56204961-chr19:56206160..56210902,10	K562	blood:
3	chr19:56165703..56169980-chr19:56194386..56196896,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063245	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000267018	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000203305	Chromatin interaction
ENSG00000267183	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs507498	0.94[AFR][1000 genomes]
rs59066458	0.81[AFR][1000 genomes]
rs59103531	0.85[AFR][1000 genomes]
rs59221728	1.00[AFR][1000 genomes]
rs59316024	0.96[AFR][1000 genomes]
rs59565463	0.98[AFR][1000 genomes]
rs60314355	0.87[AFR][1000 genomes]
rs73613271	0.98[AFR][1000 genomes]
rs73613277	0.94[AFR][1000 genomes]
rs73613291	1.00[AFR][1000 genomes]
rs73615090	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56188200-56218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:56188400-56211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:56188400-56213600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:56188600-56210000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:56188600-56212400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:56188600-56215600	Weak transcription	Fetal Brain Male	brain
7	chr19:56188800-56199800	Weak transcription	HSMMtube	muscle
8	chr19:56188800-56212400	Strong transcription	Thymus	Thymus
9	chr19:56189000-56199600	Strong transcription	Fetal Stomach	stomach
10	chr19:56189000-56210000	Strong transcription	Fetal Brain Female	brain
11	chr19:56189200-56199400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:56189200-56209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:56189200-56212600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:56189400-56198000	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr19:56189400-56199600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:56189400-56209400	Strong transcription	Fetal Thymus	thymus
17	chr19:56189400-56209400	Strong transcription	Dnd41	blood
18	chr19:56189400-56212400	Strong transcription	Brain Germinal Matrix	brain
19	chr19:56189600-56204600	Strong transcription	Brain Anterior Caudate	brain
20	chr19:56189600-56209400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:56189600-56209800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:56189600-56213200	Strong transcription	Primary T cells from cord blood	blood
23	chr19:56190000-56196800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:56190000-56198400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:56190000-56212600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:56190200-56210200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:56190200-56212400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:56190400-56197600	Strong transcription	Brain Angular Gyrus	brain
29	chr19:56190400-56198000	Strong transcription	Colon Smooth Muscle	Colon
30	chr19:56190600-56198800	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:56190600-56198800	Weak transcription	Small Intestine	intestine
32	chr19:56191000-56212400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:56191400-56204600	Weak transcription	NHDF-Ad	bronchial
34	chr19:56191600-56197200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:56191800-56199400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:56191800-56200200	Weak transcription	K562	blood
37	chr19:56191800-56201800	Strong transcription	NHEK	skin
38	chr19:56191800-56203000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:56191800-56218800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:56192000-56198600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:56192000-56214600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:56192200-56196800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:56192200-56199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:56192200-56209800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:56192200-56211200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:56192400-56196400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:56192400-56198800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:56192400-56199600	Strong transcription	Placenta	Placenta
49	chr19:56192400-56200800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:56192400-56202200	Strong transcription	GM12878-XiMat	blood

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