Variant report

Variant	rs57870078
Chromosome Location	chr19:18950060-18950061
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18882666..18885007-chr19:18949249..18951602,2	K562	blood:
2	chr19:18948748..18952215-chr19:18952430..18955166,3	MCF-7	breast:
3	chr19:18948977..18952233-chr19:18955408..18962693,8	MCF-7	breast:
4	chr19:18893741..18897746-chr19:18945981..18952333,7	K562	blood:
5	chr19:18682558..18684067-chr19:18947357..18950283,2	K562	blood:

Variant related genes	Relation type
ENSG00000221983	Chromatin interaction
ENSG00000005007	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10410987	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11673194	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005695	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2018392	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4808161	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808163	0.93[EUR][1000 genomes]
rs4808164	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808859	0.85[ASN][1000 genomes]
rs4808866	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808868	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808869	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808870	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7250661	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7252523	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252796	0.85[ASN][1000 genomes]
rs7257086	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73526907	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73526909	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757114	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs886298	0.94[EUR][1000 genomes];0.97[ASN][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	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18945200-18951600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:18945200-18952200	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr19:18945200-18956600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:18945400-18950600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:18945400-18952600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr19:18945600-18950200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18945600-18950200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:18945600-18950200	Strong transcription	Fetal Muscle Leg	muscle
9	chr19:18945600-18950200	Weak transcription	HSMMtube	muscle
10	chr19:18945600-18950400	Genic enhancers	Duodenum Mucosa	Duodenum
11	chr19:18945600-18950400	Strong transcription	Fetal Stomach	stomach
12	chr19:18945600-18950600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr19:18945600-18953200	Weak transcription	Aorta	Aorta
14	chr19:18945800-18950200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:18945800-18950400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr19:18945800-18950600	Genic enhancers	Fetal Intestine Large	intestine
17	chr19:18945800-18952400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:18945800-18953000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:18945800-18955000	Genic enhancers	Fetal Intestine Small	intestine
20	chr19:18946000-18950200	Weak transcription	Brain Angular Gyrus	brain
21	chr19:18946000-18950400	Weak transcription	Fetal Heart	heart
22	chr19:18946000-18952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:18946200-18958200	Weak transcription	Fetal Kidney	kidney
24	chr19:18946600-18950200	Strong transcription	A549	lung
25	chr19:18946600-18950400	Strong transcription	Thymus	Thymus
26	chr19:18946800-18950800	Weak transcription	Fetal Brain Male	brain
27	chr19:18947000-18950200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:18947000-18950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:18947000-18952200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:18947200-18950200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:18947200-18951200	Strong transcription	NHEK	skin
32	chr19:18947200-18958400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:18947400-18950400	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:18947400-18950400	Strong transcription	Fetal Thymus	thymus
35	chr19:18948000-18950600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:18948200-18951400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:18948200-18951400	Enhancers	NHDF-Ad	bronchial
38	chr19:18948200-18951600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr19:18948200-18953200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr19:18948400-18950400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:18948400-18950600	Strong transcription	Brain Germinal Matrix	brain
42	chr19:18948600-18950200	Weak transcription	Brain Anterior Caudate	brain
43	chr19:18948600-18951200	Strong transcription	Fetal Brain Female	brain
44	chr19:18948600-18957200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:18948800-18950200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:18948800-18950200	Weak transcription	Ovary	ovary
47	chr19:18948800-18950400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:18948800-18950400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:18948800-18950400	Strong transcription	Dnd41	blood
50	chr19:18948800-18950800	Enhancers	HUVEC	blood vessel

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