Variant report

Variant	rs35061187
Chromosome Location	chr19:41316898-41316899
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	chr19:41222253..41224407-chr19:41315424..41318276,2	K562	blood:
2	chr19:41221999..41223753-chr19:41315424..41317151,2	K562	blood:

Variant related genes	Relation type
ENSG00000123815	Chromatin interaction
ENSG00000086544	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11547373	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12052092	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35405967	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733829	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3736329	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3776611	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs41530251	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4802090	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4802091	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4803369	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73048928	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][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	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41324400	Weak transcription	HepG2	liver
2	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
3	chr19:41315400-41317400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:41315800-41317000	Enhancers	Liver	Liver
5	chr19:41315800-41318000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr19:41315800-41318400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:41316000-41317000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:41316000-41317200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:41316000-41319400	Enhancers	Spleen	Spleen
10	chr19:41316000-41319800	Enhancers	Fetal Heart	heart
11	chr19:41316200-41317000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:41316200-41317200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr19:41316200-41317200	Weak transcription	Lung	lung
14	chr19:41316200-41317200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr19:41316200-41317200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:41316200-41317200	Flanking Active TSS	HUVEC	blood vessel
17	chr19:41316200-41317200	Flanking Active TSS	NH-A	brain
18	chr19:41316200-41317400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:41316200-41317400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:41316200-41317400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:41316200-41317400	Flanking Active TSS	Placenta	Placenta
22	chr19:41316200-41317600	Enhancers	NHDF-Ad	bronchial
23	chr19:41316200-41317800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:41316200-41317800	Enhancers	Stomach Mucosa	stomach
25	chr19:41316200-41318000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:41316200-41318000	Active TSS	Right Atrium	heart
27	chr19:41316200-41318200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr19:41316200-41318200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:41316200-41318200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:41316200-41318200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:41316200-41318400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:41316200-41318400	Active TSS	Brain Angular Gyrus	brain
33	chr19:41316200-41324400	Weak transcription	Gastric	stomach
34	chr19:41316400-41317000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:41316400-41317000	Active TSS	Esophagus	oesophagus
36	chr19:41316400-41317000	Active TSS	Pancreas	Pancrea
37	chr19:41316400-41317000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr19:41316400-41317000	Active TSS	NHLF	lung
39	chr19:41316400-41317200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:41316400-41317200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:41316400-41317200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:41316400-41317200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:41316400-41317200	Active TSS	Brain Cingulate Gyrus	brain
44	chr19:41316400-41317200	Active TSS	Brain Germinal Matrix	brain
45	chr19:41316400-41317200	Active TSS	Brain Hippocampus Middle	brain
46	chr19:41316400-41317200	Active TSS	Colonic Mucosa	Colon
47	chr19:41316400-41317200	Active TSS	Colon Smooth Muscle	Colon
48	chr19:41316400-41317200	Active TSS	Duodenum Mucosa	Duodenum
49	chr19:41316400-41317200	Active TSS	Fetal Intestine Small	intestine
50	chr19:41316400-41317200	Active TSS	Left Ventricle	heart

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