Variant report

Variant	rs13381673
Chromosome Location	chr18:29647986-29647987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29645971..29648170-chr18:29655121..29657233,2	K562	blood:
2	chr18:29523882..29525586-chr18:29646566..29649385,2	K562	blood:
3	chr18:29636110..29637655-chr18:29646609..29648361,2	K562	blood:

Variant related genes	Relation type
ENSG00000214917	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10221323	1.00[ASN][1000 genomes]
rs10468830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327088	1.00[ASN][1000 genomes]
rs12965536	1.00[CHB][hapmap]
rs13381543	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16962626	1.00[ASN][1000 genomes]
rs16962681	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663379	1.00[ASN][1000 genomes]
rs2421180	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28549720	1.00[ASN][1000 genomes]
rs56028245	1.00[ASN][1000 genomes]
rs57224930	1.00[ASN][1000 genomes]
rs62093910	1.00[ASN][1000 genomes]
rs62093935	1.00[ASN][1000 genomes]
rs62093936	1.00[ASN][1000 genomes]
rs62093938	1.00[ASN][1000 genomes]
rs62093944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2757673	chr18:29632749-29674992	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2758719	chr18:29632749-29674992	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1064505	chr18:29637586-29659148	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv909520	chr18:29645496-29666127	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv909521	chr18:29645496-29671510	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv909522	chr18:29645496-29674992	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv909523	chr18:29645496-29679922	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:29630000-29664400	Weak transcription	Fetal Muscle Leg	muscle
6	chr18:29630400-29650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:29630400-29664400	Weak transcription	Left Ventricle	heart
8	chr18:29630800-29658600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
10	chr18:29635200-29650600	Weak transcription	Lung	lung
11	chr18:29638000-29652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:29638000-29652200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:29640400-29651600	Weak transcription	Spleen	Spleen
14	chr18:29640400-29652400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:29640400-29664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr18:29640400-29664600	Weak transcription	Thymus	Thymus
17	chr18:29640600-29651800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:29640600-29664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:29642200-29651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr18:29642600-29651600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:29642600-29664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:29643600-29649400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:29643600-29650800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr18:29643600-29652000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr18:29644000-29649200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr18:29644000-29652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:29644000-29652000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr18:29644000-29664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr18:29644400-29649200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:29644600-29650800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr18:29645000-29649000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr18:29645400-29650600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:29645600-29655800	Weak transcription	Right Ventricle	heart
34	chr18:29645800-29650000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:29645800-29652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:29646400-29648600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:29646400-29650000	Strong transcription	Adipose Nuclei	Adipose
38	chr18:29646400-29652400	Strong transcription	Primary T cells from cord blood	blood
39	chr18:29646600-29648600	Enhancers	Duodenum Mucosa	Duodenum
40	chr18:29646600-29648800	Enhancers	Fetal Intestine Large	intestine
41	chr18:29646600-29649000	Enhancers	Fetal Intestine Small	intestine
42	chr18:29646800-29648400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr18:29647000-29660200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr18:29647000-29660400	Weak transcription	Fetal Thymus	thymus
45	chr18:29647000-29664400	Weak transcription	Liver	Liver
46	chr18:29647200-29650000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr18:29647400-29648000	Enhancers	HepG2	liver
48	chr18:29647400-29652600	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:29647400-29653400	Weak transcription	Primary B cells from cord blood	blood
50	chr18:29647600-29649800	Strong transcription	Primary monocytes fromperipheralblood	blood

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