Variant report

Variant	rs3811419
Chromosome Location	chr1:151805819-151805820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151762059..151766604-chr1:151800169..151809078,15	MCF-7	breast:
2	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:
3	chr1:151512695..151514361-chr1:151804056..151806637,3	MCF-7	breast:
4	chr1:151804439..151806613-chr1:152006311..152009166,3	MCF-7	breast:
5	chr1:151735081..151737738-chr1:151803314..151806226,2	MCF-7	breast:
6	chr1:151519770..151522144-chr1:151805041..151806645,2	MCF-7	breast:
7	chr1:151483209..151487051-chr1:151804533..151808098,3	MCF-7	breast:
8	chr1:151731676..151737592-chr1:151803957..151806544,6	MCF-7	breast:
9	chr1:151803084..151806304-chr1:151962981..151966430,4	MCF-7	breast:
10	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
11	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203288	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11582525	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs12126984	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3811417	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811418	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845602	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4845606	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72692781	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72692783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7540799	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151798400-151807000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:151799000-151807800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:151800000-151806400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr1:151801200-151807400	Enhancers	Primary T cells from cord blood	blood
5	chr1:151801200-151808000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:151802000-151809400	Enhancers	Fetal Thymus	thymus
7	chr1:151802200-151807000	Enhancers	Thymus	Thymus
8	chr1:151802400-151808000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:151802400-151810400	Weak transcription	Right Atrium	heart
10	chr1:151802800-151811000	Enhancers	Placenta	Placenta
11	chr1:151803400-151807000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:151803600-151806000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:151803600-151806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:151803800-151806000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:151803800-151808800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:151803800-151808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:151803800-151808800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:151803800-151808800	Weak transcription	A549	lung
19	chr1:151804000-151806000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:151804000-151806200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr1:151804200-151807200	Enhancers	Fetal Intestine Large	intestine
22	chr1:151804200-151808800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:151804400-151806000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:151804400-151806000	Enhancers	Esophagus	oesophagus
25	chr1:151804400-151806400	Enhancers	Fetal Muscle Leg	muscle
26	chr1:151804400-151807200	Flanking Active TSS	Liver	Liver
27	chr1:151804400-151809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:151804400-151810200	Weak transcription	Gastric	stomach
29	chr1:151804400-151810600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:151804600-151806800	Enhancers	Colonic Mucosa	Colon
31	chr1:151804600-151807800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:151804600-151808000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
34	chr1:151804800-151806200	Enhancers	Brain Substantia Nigra	brain
35	chr1:151804800-151806200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:151804800-151806400	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:151804800-151807800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:151804800-151809400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:151805000-151806200	Enhancers	Brain Hippocampus Middle	brain
40	chr1:151805000-151806600	Enhancers	Stomach Mucosa	stomach
41	chr1:151805000-151809000	Weak transcription	Psoas Muscle	Psoas
42	chr1:151805000-151810200	Weak transcription	Right Ventricle	heart
43	chr1:151805200-151806000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:151805200-151806200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:151805200-151806800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:151805200-151807200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:151805200-151808600	Weak transcription	Fetal Intestine Small	intestine
48	chr1:151805200-151810400	Weak transcription	Lung	lung
49	chr1:151805200-151810600	Enhancers	Dnd41	blood
50	chr1:151805400-151808400	Weak transcription	HMEC	breast

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