Variant report

Variant	rs921837
Chromosome Location	chr18:9744152-9744153
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9743211..9744889-chr18:9877031..9879316,2	K562	blood:
2	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
3	chr18:9742662..9744377-chr18:9770072..9773067,3	K562	blood:
4	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
5	chr18:9744137..9746832-chr18:9760873..9762598,2	K562	blood:
6	chr18:9707781..9712452-chr18:9739628..9745256,6	K562	blood:
7	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
8	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
9	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:
10	chr18:9731963..9738554-chr18:9740350..9745076,12	MCF-7	breast:
11	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:
12	chr18:9658659..9661626-chr18:9743254..9745822,2	K562	blood:
13	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
14	chr18:9742614..9745446-chr18:9869217..9871460,2	K562	blood:
15	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
16	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:
17	chr18:9743764..9745565-chr18:9913039..9915568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000266891	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12457728	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34735184	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62078924	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6506685	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8087451	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv9606	chr18:9743017-9755287	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757669	chr18:9743326-9753992	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758712	chr18:9743326-9753992	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv828177	chr18:9743875-9754292	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs921837	RAB31	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9738200-9746000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:9739800-9744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:9740000-9744200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:9740800-9744400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:9741000-9744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:9741400-9744400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr18:9741400-9744400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:9741400-9744400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr18:9741400-9744400	Enhancers	HSMM	muscle
10	chr18:9741600-9744200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr18:9741600-9744400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr18:9741800-9744200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr18:9741800-9744200	Enhancers	NHLF	lung
14	chr18:9741800-9744400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:9741800-9744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:9741800-9744400	Enhancers	HMEC	breast
17	chr18:9741800-9744600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr18:9741800-9744800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:9742000-9744200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr18:9742000-9744400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr18:9742000-9744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr18:9742200-9746600	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:9742600-9744800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
25	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
27	chr18:9743000-9744200	Enhancers	Primary B cells from cord blood	blood
28	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr18:9743200-9744200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:9743200-9744200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:9743200-9744400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr18:9743200-9744400	Flanking Active TSS	A549	lung
33	chr18:9743200-9744400	Enhancers	NHEK	skin
34	chr18:9743200-9745000	Weak transcription	Fetal Intestine Small	intestine
35	chr18:9743200-9750200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr18:9743400-9754800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr18:9743600-9744200	Enhancers	Osteobl	bone
38	chr18:9743600-9744400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:9743600-9744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:9743600-9744400	Enhancers	NH-A	brain
41	chr18:9743600-9755400	Weak transcription	Fetal Stomach	stomach
42	chr18:9743800-9744200	Flanking Active TSS	Hela-S3	cervix
43	chr18:9743800-9744400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr18:9743800-9744400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:9743800-9745800	Weak transcription	Small Intestine	intestine
46	chr18:9743800-9747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:9743800-9750000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr18:9744000-9744200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr18:9744000-9744200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:9744000-9744200	Enhancers	HepG2	liver

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