Variant report

Variant	rs2215498
Chromosome Location	chr18:9816451-9816452
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:
2	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
3	chr18:9816186..9818041-chr18:9822656..9824440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242651	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11872226	1.00[CHB][hapmap]
rs12455645	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs12958417	1.00[CHB][hapmap]
rs2191618	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299841	1.00[JPT][hapmap]
rs56007372	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
7	esv3372565	chr18:9813252-9818150	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3490316	chr18:9814052-9817250	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3377423	chr18:9814502-9817300	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3490312	chr18:9814602-9817100	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3490321	chr18:9814928-9816733	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv820745	chr18:9814979-9816456	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1802057	chr18:9815135-9816546	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1808423	chr18:9815135-9816546	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1822048	chr18:9815135-9816546	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:9809200-9824800	Weak transcription	Lung	lung
10	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
11	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
12	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9809600-9824400	Weak transcription	HMEC	breast
14	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
15	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
16	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:9810200-9824000	Weak transcription	Ovary	ovary
18	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
19	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
21	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
23	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
24	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr18:9811400-9817000	Weak transcription	Left Ventricle	heart
26	chr18:9811400-9817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
28	chr18:9812200-9817400	Weak transcription	Psoas Muscle	Psoas
29	chr18:9812400-9817200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:9812400-9817600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:9813000-9817400	Weak transcription	Fetal Muscle Leg	muscle
34	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr18:9814000-9818000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr18:9814200-9817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:9814600-9817800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:9814800-9817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:9814800-9823800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr18:9815000-9816600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:9815000-9817000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:9815000-9818400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr18:9815000-9823800	Weak transcription	A549	lung
45	chr18:9815200-9817600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:9815200-9824000	Weak transcription	HSMMtube	muscle
47	chr18:9815200-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:9815200-9824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:9815400-9817200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr18:9815400-9820600	Weak transcription	HUVEC	blood vessel

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