Variant report

Variant	rs8106701
Chromosome Location	chr19:40826331-40826332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40825864..40828845-chr19:40848574..40850485,2	K562	blood:

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10419783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3745196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4239505	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4239507	1.00[ASN][1000 genomes]
rs4273150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803321	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253975	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8103643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103796	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8108272	1.00[CEU][hapmap]
rs8110995	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs8111561	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[EUR][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
2	chr19:40802800-40828000	Weak transcription	NH-A	brain
3	chr19:40810600-40829800	Weak transcription	NHDF-Ad	bronchial
4	chr19:40811400-40826600	Weak transcription	NHEK	skin
5	chr19:40811600-40826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:40811800-40826400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:40811800-40826600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40811800-40826600	Weak transcription	Fetal Lung	lung
9	chr19:40811800-40831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:40815400-40832800	Weak transcription	Fetal Brain Male	brain
11	chr19:40817400-40827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:40817600-40827200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:40819200-40826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:40819200-40834000	Weak transcription	Fetal Kidney	kidney
15	chr19:40819400-40828200	Weak transcription	Osteobl	bone
16	chr19:40819800-40826600	Weak transcription	Primary B cells from cord blood	blood
17	chr19:40819800-40826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:40820000-40827400	Weak transcription	HepG2	liver
19	chr19:40820200-40826400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:40820600-40826600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:40820600-40827400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:40820800-40826600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:40820800-40848400	Strong transcription	Dnd41	blood
24	chr19:40821200-40831800	Weak transcription	K562	blood
25	chr19:40821400-40827200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:40821400-40827800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:40821400-40835000	Strong transcription	Fetal Intestine Small	intestine
28	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:40821800-40826600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:40821800-40829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:40822000-40829200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:40822000-40833400	Weak transcription	Fetal Heart	heart
33	chr19:40822000-40842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:40822000-40843400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
36	chr19:40822200-40826400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:40822200-40828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:40822200-40828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:40822200-40842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:40822200-40842600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:40822200-40843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:40822400-40826400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:40822600-40826400	Weak transcription	Primary T cells from cord blood	blood
46	chr19:40822600-40826600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:40822600-40826800	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:40822600-40828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:40822800-40826400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:40822800-40826800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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