Variant report

Variant	rs12073
Chromosome Location	chr17:19286800-19286801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19285746..19288730-chr17:19289880..19292105,4	K562	blood:
2	chr17:19279668..19284298-chr17:19286493..19290237,7	MCF-7	breast:
3	chr17:19280731..19284248-chr17:19285709..19289358,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B9D1-3	chr17:19286759-19286925	NONHSAT146474

Variant related genes	Relation type
ENSG00000108641	Chromatin interaction
ENSG00000166484	Chromatin interaction
ENSG00000166482	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61112413	0.82[AFR][1000 genomes]
rs61588149	0.92[AFR][1000 genomes]
rs61668687	1.00[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	nsv1064651	chr17:19142280-19349054	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1057927	chr17:19152728-19431280	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv543252	chr17:19152728-19431280	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	esv1828682	chr17:19168912-19358443	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv482384	chr17:19192964-19354971	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
6	nsv907864	chr17:19240972-19290152	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19282000-19287600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:19282000-19288000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:19282400-19287600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:19282400-19287600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:19282400-19289000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:19282600-19287000	Genic enhancers	Spleen	Spleen
7	chr17:19282600-19289600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:19282800-19287000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:19282800-19287000	Weak transcription	Right Atrium	heart
10	chr17:19282800-19287800	Genic enhancers	Fetal Stomach	stomach
11	chr17:19282800-19288000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:19282800-19288200	Genic enhancers	Esophagus	oesophagus
13	chr17:19282800-19288200	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr17:19282800-19288400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr17:19282800-19289200	Genic enhancers	Placenta	Placenta
16	chr17:19283000-19286800	Strong transcription	Fetal Thymus	thymus
17	chr17:19283000-19287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:19283000-19287000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:19283000-19287000	Strong transcription	Brain Hippocampus Middle	brain
20	chr17:19283000-19287200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:19283000-19287200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:19283000-19287200	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr17:19283000-19287400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:19283000-19287400	Weak transcription	Psoas Muscle	Psoas
25	chr17:19283000-19287600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:19283000-19287800	Strong transcription	Primary B cells from cord blood	blood
27	chr17:19283000-19287800	Strong transcription	Thymus	Thymus
28	chr17:19283000-19287800	Weak transcription	K562	blood
29	chr17:19283000-19288400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr17:19283000-19288800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr17:19283000-19288800	Weak transcription	Hela-S3	cervix
32	chr17:19283000-19289000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:19283000-19289200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr17:19283000-19289200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:19283000-19289200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:19283000-19289400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:19283000-19289800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:19283200-19286800	Strong transcription	HSMM	muscle
39	chr17:19283200-19287000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:19283200-19287400	Strong transcription	Brain Anterior Caudate	brain
41	chr17:19283200-19287400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr17:19283200-19287400	Strong transcription	HMEC	breast
43	chr17:19283200-19287600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:19283200-19287600	Strong transcription	HUVEC	blood vessel
45	chr17:19283200-19287600	Strong transcription	NHEK	skin
46	chr17:19283200-19288000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:19283200-19288000	Strong transcription	A549	lung
48	chr17:19283200-19288000	Strong transcription	Osteobl	bone
49	chr17:19283200-19289000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:19283200-19289000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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