Variant report

Variant	rs11555958
Chromosome Location	chr19:18054110-18054111
allele	A/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:17970501..17973186-chr19:18052802..18056454,3	K562	blood:
2	chr19:18051446..18054278-chr19:18102804..18105349,2	MCF-7	breast:
3	chr19:17904033..17907953-chr19:18053492..18055674,3	K562	blood:
4	chr19:18052586..18055033-chr19:18189740..18191499,2	K562	blood:
5	chr19:17969582..17973186-chr19:18054020..18056454,3	K562	blood:
6	chr19:18052531..18054243-chr19:18083293..18086646,3	K562	blood:
7	chr19:18042363..18044515-chr19:18053846..18055491,2	K562	blood:
8	chr19:18051562..18057273-chr19:18105982..18113371,17	K562	blood:
9	chr19:18046806..18048711-chr19:18053789..18055491,3	K562	blood:
10	chr19:18053806..18056439-chr19:18107928..18110413,2	MCF-7	breast:
11	chr19:18053033..18055778-chr19:18313427..18315013,2	K562	blood:
12	chr19:17973888..17976325-chr19:18052357..18054668,3	K562	blood:
13	chr19:18052069..18059812-chr19:18106129..18113779,16	K562	blood:
14	chr19:18042084..18044515-chr19:18053846..18055873,3	K562	blood:
15	chr19:17973888..17976325-chr19:18052541..18054668,2	K562	blood:
16	chr19:18052526..18055428-chr19:18130748..18134829,3	K562	blood:
17	chr19:18052887..18055484-chr19:18079172..18081041,3	K562	blood:
18	chr19:18053189..18054949-chr19:18116160..18117769,2	K562	blood:
19	chr19:18052659..18054243-chr19:18211950..18214668,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000007080	Chromatin interaction
ENSG00000179913	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000268032	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17882031	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs57757608	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]
rs8111135	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	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	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
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18044600-18058200	Weak transcription	Psoas Muscle	Psoas
2	chr19:18044800-18054400	Weak transcription	Right Atrium	heart
3	chr19:18044800-18054400	Weak transcription	A549	lung
4	chr19:18044800-18054400	Weak transcription	NH-A	brain
5	chr19:18044800-18055000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:18044800-18055000	Weak transcription	HSMMtube	muscle
7	chr19:18044800-18057000	Weak transcription	Primary B cells from cord blood	blood
8	chr19:18044800-18057800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:18044800-18057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:18044800-18058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:18044800-18058000	Weak transcription	Fetal Brain Male	brain
12	chr19:18044800-18058000	Weak transcription	Fetal Kidney	kidney
13	chr19:18044800-18058000	Weak transcription	Small Intestine	intestine
14	chr19:18044800-18058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:18045000-18054400	Weak transcription	HUVEC	blood vessel
16	chr19:18045000-18055000	Weak transcription	Osteobl	bone
17	chr19:18045000-18057800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:18045000-18057800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:18045000-18058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:18045000-18058000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:18045000-18058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:18045000-18058000	Weak transcription	Fetal Heart	heart
23	chr19:18045000-18058000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:18045200-18058000	Weak transcription	Stomach Mucosa	stomach
25	chr19:18045400-18054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:18045400-18057000	Weak transcription	GM12878-XiMat	blood
27	chr19:18046600-18054200	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:18046600-18055000	Strong transcription	Right Ventricle	heart
29	chr19:18046800-18056000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18046800-18056000	Strong transcription	Brain Hippocampus Middle	brain
31	chr19:18047000-18055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:18047000-18056200	Strong transcription	Lung	lung
33	chr19:18047200-18054600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:18047200-18055600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:18047800-18058200	Weak transcription	Left Ventricle	heart
36	chr19:18048000-18055400	Strong transcription	Thymus	Thymus
37	chr19:18048600-18054800	Weak transcription	HSMM	muscle
38	chr19:18048600-18058000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:18049200-18054800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:18049200-18055000	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:18049400-18054600	Weak transcription	HMEC	breast
42	chr19:18049400-18056000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr19:18049600-18054800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:18049800-18055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:18049800-18056200	Strong transcription	Primary T cells from cord blood	blood
46	chr19:18050200-18055400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:18050200-18055400	Strong transcription	Gastric	stomach
48	chr19:18050200-18055600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:18050200-18056000	Strong transcription	Spleen	Spleen
50	chr19:18050200-18056200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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