Variant report

Variant	rs8111135
Chromosome Location	chr19:18120760-18120761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18117776..18120965-chr19:18206540..18209707,3	K562	blood:
2	chr19:18110960..18114857-chr19:18116339..18121671,9	K562	blood:
3	chr19:18118081..18123084-chr19:18129890..18134974,7	K562	blood:
4	chr19:18110338..18114857-chr19:18116267..18121359,9	K562	blood:

Variant related genes	Relation type
ENSG00000096996	Chromatin interaction
ENSG00000268032	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11555958	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7253479	1.00[EUR][1000 genomes]
rs7255121	1.00[EUR][1000 genomes]
rs8103555	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9989677	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	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
6	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv911232	chr19:18061509-18123965	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv911234	chr19:18075807-18128388	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv1836842	chr19:18085428-18173603	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18117800-18121600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:18118000-18123400	Active TSS	Psoas Muscle	Psoas
3	chr19:18118400-18124000	Strong transcription	Hela-S3	cervix
4	chr19:18118800-18121400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr19:18118800-18123000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:18119200-18121000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:18119200-18121200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:18119200-18121600	Transcr. at gene 5' and 3'	Thymus	Thymus
9	chr19:18119200-18122800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
10	chr19:18119200-18133200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:18119400-18120800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:18119400-18120800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
13	chr19:18119400-18121200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:18119400-18121200	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
15	chr19:18119400-18121200	Active TSS	Right Atrium	heart
16	chr19:18119400-18121400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
17	chr19:18119400-18121600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:18119400-18121600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
19	chr19:18119400-18122000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
20	chr19:18119400-18122600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
21	chr19:18119400-18122600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
22	chr19:18119400-18123800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:18119400-18124000	Weak transcription	Fetal Brain Male	brain
24	chr19:18119400-18124800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:18119400-18133200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:18119400-18133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:18119600-18120800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:18119600-18120800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
29	chr19:18119600-18121200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:18119600-18121400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:18119600-18121400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:18119600-18121400	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:18119600-18121400	Transcr. at gene 5' and 3'	Right Ventricle	heart
34	chr19:18119600-18121600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
35	chr19:18119600-18121600	Transcr. at gene 5' and 3'	Left Ventricle	heart
36	chr19:18119600-18124400	Strong transcription	Fetal Intestine Small	intestine
37	chr19:18119600-18126400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr19:18119600-18132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:18119600-18133200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:18119800-18120800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr19:18119800-18121000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
42	chr19:18119800-18121200	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr19:18119800-18122000	Transcr. at gene 5' and 3'	Lung	lung
44	chr19:18119800-18122400	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:18119800-18122600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
46	chr19:18119800-18122600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
47	chr19:18119800-18123800	Weak transcription	HUVEC	blood vessel
48	chr19:18119800-18124800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:18120000-18120800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:18120000-18121000	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose

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