Variant report

Variant	rs34377632
Chromosome Location	chr19:38901633-38901634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38881161..38882729-chr19:38901627..38904199,2	K562	blood:
2	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
3	chr19:38900995..38903481-chr19:38906276..38908825,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171777	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000130244	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11883126	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12971920	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12972609	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12972895	1.00[EUR][1000 genomes]
rs12973210	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12974363	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12974979	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12975212	0.96[EUR][1000 genomes]
rs12982894	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12986359	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17640544	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34026587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34158728	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34411591	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34456672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34898849	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35136248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71356804	1.00[EUR][1000 genomes]
rs71356805	1.00[EUR][1000 genomes]
rs9916978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38894400-38903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:38894400-38908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:38894600-38902000	Weak transcription	HSMM	muscle
4	chr19:38894600-38902000	Weak transcription	NHEK	skin
5	chr19:38894600-38907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:38894600-38908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:38894600-38908400	Weak transcription	Left Ventricle	heart
8	chr19:38894600-38908400	Weak transcription	HUVEC	blood vessel
9	chr19:38894800-38902400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:38894800-38908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:38894800-38908400	Weak transcription	Small Intestine	intestine
12	chr19:38895000-38903400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:38895000-38905800	Weak transcription	Brain Germinal Matrix	brain
14	chr19:38895000-38907800	Weak transcription	GM12878-XiMat	blood
15	chr19:38895000-38908000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:38895000-38908400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:38895200-38904200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:38895200-38906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:38895200-38907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:38895200-38908200	Weak transcription	Fetal Thymus	thymus
21	chr19:38895400-38907800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr19:38895400-38908000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:38895600-38906000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:38895800-38907600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:38896400-38902000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:38897800-38907600	Weak transcription	Esophagus	oesophagus
27	chr19:38897800-38908400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:38898000-38903000	Weak transcription	Brain Angular Gyrus	brain
29	chr19:38898000-38903400	Weak transcription	Fetal Intestine Large	intestine
30	chr19:38898000-38903800	Weak transcription	Lung	lung
31	chr19:38898000-38904000	Weak transcription	Right Ventricle	heart
32	chr19:38898000-38904800	Weak transcription	Fetal Brain Female	brain
33	chr19:38898000-38905000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:38898000-38906000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:38898000-38907800	Weak transcription	Primary B cells from cord blood	blood
36	chr19:38898000-38908000	Weak transcription	Pancreas	Pancrea
37	chr19:38898000-38908200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:38898000-38908200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr19:38898000-38908400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:38898000-38908400	Weak transcription	Brain Anterior Caudate	brain
41	chr19:38898000-38908400	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:38898000-38908400	Weak transcription	Gastric	stomach
43	chr19:38898000-38908400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:38898000-38908600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:38898000-38908600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:38898200-38901800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:38898200-38903400	Weak transcription	Thymus	Thymus
48	chr19:38898200-38908000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr19:38898200-38908600	Weak transcription	Fetal Lung	lung
50	chr19:38898800-38904200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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