Variant report

Variant	rs34780332
Chromosome Location	chr6:144801010-144801011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144795886..144798069-chr6:144800521..144802529,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10080920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34481184	1.00[AMR][1000 genomes]
rs57106567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60733415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484878	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496977	1.00[AMR][1000 genomes]
rs9496985	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144741000-144801800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:144756000-144810600	Weak transcription	Small Intestine	intestine
3	chr6:144763000-144813800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:144764400-144838800	Weak transcription	A549	lung
5	chr6:144771400-144815800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:144771800-144811800	Weak transcription	Stomach Mucosa	stomach
7	chr6:144778600-144813800	Weak transcription	Hela-S3	cervix
8	chr6:144781800-144806600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:144782000-144806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:144782000-144806600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:144782000-144806600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:144782000-144806600	Weak transcription	Spleen	Spleen
13	chr6:144782000-144809800	Weak transcription	Gastric	stomach
14	chr6:144782200-144806600	Weak transcription	Colonic Mucosa	Colon
15	chr6:144782400-144801200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:144783800-144802800	Weak transcription	NHLF	lung
17	chr6:144784600-144812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:144788600-144806400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:144788600-144808800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:144788800-144812000	Weak transcription	Esophagus	oesophagus
21	chr6:144788800-144821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:144789400-144822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:144789600-144812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:144790400-144802800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:144792000-144810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:144792200-144804400	Strong transcription	Fetal Thymus	thymus
27	chr6:144792400-144802600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:144792400-144815400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr6:144792400-144823800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:144792400-144824400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:144792400-144826000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:144792600-144802800	Strong transcription	HepG2	liver
33	chr6:144792600-144815400	Strong transcription	Primary B cells from cord blood	blood
34	chr6:144793200-144814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:144793400-144802800	Weak transcription	Ovary	ovary
36	chr6:144793800-144806600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:144794000-144802400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:144794800-144802000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:144794800-144803200	Strong transcription	Dnd41	blood
40	chr6:144795400-144811200	Weak transcription	NHEK	skin
41	chr6:144795600-144822600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:144795800-144849800	Weak transcription	HMEC	breast
43	chr6:144796400-144801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:144796600-144806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:144796800-144801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:144796800-144806600	Weak transcription	Aorta	Aorta
47	chr6:144797000-144806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:144797200-144805200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:144797400-144806200	Weak transcription	Fetal Intestine Small	intestine
50	chr6:144797400-144822000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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