Variant report

Variant	rs10419495
Chromosome Location	chr19:52696804-52696805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52696376..52697910-chr19:52705530..52707663,2	MCF-7	breast:
2	chr19:52696461..52698396-chr19:52721728..52724124,2	K562	blood:
3	chr19:52696334..52698371-chr19:52722454..52724052,2	MCF-7	breast:
4	chr19:52521352..52523210-chr19:52695017..52697465,2	K562	blood:
5	chr19:52642060..52644482-chr19:52693480..52696819,3	K562	blood:

Variant related genes	Relation type
ENSG00000204611	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10401204	0.82[AFR][1000 genomes]
rs10415049	0.94[AFR][1000 genomes]
rs13346025	0.94[AFR][1000 genomes]
rs16983545	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059417	chr19:52662380-52703801	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv2760529	chr19:52662380-52703813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52694400-52710200	ZNF genes & repeats	A549	lung
2	chr19:52694600-52697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:52694600-52698000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr19:52694600-52702600	Weak transcription	Aorta	Aorta
5	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:52694800-52698600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:52694800-52698600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:52695000-52698400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:52695200-52697400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:52695200-52697600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:52695200-52698000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr19:52695200-52698000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:52695200-52699400	Weak transcription	NH-A	brain
14	chr19:52695200-52700200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:52695200-52701200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:52695200-52702000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:52695200-52702800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:52695200-52708400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:52695200-52711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:52695400-52697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:52695400-52697400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:52695400-52697400	Weak transcription	Ovary	ovary
23	chr19:52695400-52698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:52695400-52698000	Weak transcription	Fetal Brain Male	brain
25	chr19:52695400-52698000	Genic enhancers	Dnd41	blood
26	chr19:52695400-52698400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:52695400-52698800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:52695400-52701800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:52695400-52702800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:52695400-52702800	Strong transcription	NHLF	lung
31	chr19:52695400-52707600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:52695400-52732200	Strong transcription	Fetal Lung	lung
33	chr19:52695400-52733200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:52695600-52697000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr19:52695600-52697200	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:52695600-52697400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:52695600-52697400	Weak transcription	Brain Substantia Nigra	brain
38	chr19:52695600-52697600	Strong transcription	Fetal Muscle Leg	muscle
39	chr19:52695600-52698600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr19:52695600-52702200	Strong transcription	HSMM	muscle
41	chr19:52695600-52702400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:52695600-52702600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:52695600-52717400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr19:52695800-52697000	Strong transcription	Fetal Thymus	thymus
45	chr19:52695800-52697400	Weak transcription	Right Ventricle	heart
46	chr19:52695800-52697600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:52695800-52697600	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr19:52695800-52698800	Genic enhancers	Liver	Liver
49	chr19:52695800-52699600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr19:52695800-52700400	Strong transcription	HMEC	breast

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