Variant report

Variant	rs16955185
Chromosome Location	chr18:9534960-9534961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9532714..9535374-chr18:9538011..9541723,5	K562	blood:
2	chr18:9530961..9533128-chr18:9534267..9536483,2	K562	blood:
3	chr18:9534609..9536711-chr18:9542982..9545510,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16955201	1.00[MEX][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs16955209	1.00[AMR][1000 genomes]
rs16955215	1.00[AMR][1000 genomes]
rs16955227	1.00[AMR][1000 genomes]
rs16955235	1.00[AMR][1000 genomes]
rs16955256	1.00[AMR][1000 genomes]
rs16955261	1.00[AMR][1000 genomes]
rs59114729	0.95[AFR][1000 genomes]
rs59992205	0.95[AFR][1000 genomes]
rs61166388	0.95[AFR][1000 genomes]
rs62086147	0.86[AFR][1000 genomes]
rs62086152	0.86[AFR][1000 genomes]
rs62086156	0.86[AFR][1000 genomes]
rs62086158	0.86[AFR][1000 genomes]
rs62087368	0.86[AFR][1000 genomes]
rs62087370	0.89[AFR][1000 genomes]
rs62087371	0.89[AFR][1000 genomes]
rs62087372	0.89[AFR][1000 genomes]
rs62087402	0.95[AFR][1000 genomes]
rs62087406	0.91[AFR][1000 genomes]
rs62087407	0.91[AFR][1000 genomes]
rs7231567	1.00[AMR][1000 genomes]
rs73395717	0.89[AFR][1000 genomes]
rs73395762	1.00[AMR][1000 genomes]
rs73395765	0.89[AMR][1000 genomes]
rs73939867	1.00[AMR][1000 genomes]
rs894757	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16955185	RALBP1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
2	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
3	chr18:9521400-9535000	Strong transcription	Fetal Muscle Leg	muscle
4	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
5	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
6	chr18:9521800-9540400	Strong transcription	Dnd41	blood
7	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr18:9522200-9536200	Strong transcription	HSMM	muscle
11	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
15	chr18:9523400-9535400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
17	chr18:9526400-9535400	Strong transcription	Adipose Nuclei	Adipose
18	chr18:9526600-9535000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:9526600-9540400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr18:9527000-9535800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
24	chr18:9528600-9535600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:9528800-9535000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:9529200-9535000	Weak transcription	A549	lung
28	chr18:9529600-9539000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr18:9529800-9538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:9529800-9540600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr18:9529800-9541000	Strong transcription	Primary T cells from cord blood	blood
32	chr18:9530000-9535600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:9530000-9536600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr18:9530000-9536800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:9530000-9536800	Strong transcription	K562	blood
36	chr18:9530000-9538200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr18:9530000-9538400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:9530000-9538800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr18:9530000-9540600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr18:9530200-9538200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:9530200-9539000	Strong transcription	Left Ventricle	heart
42	chr18:9530200-9540600	Strong transcription	Fetal Lung	lung
43	chr18:9530200-9540800	Strong transcription	Thymus	Thymus
44	chr18:9530400-9535200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr18:9530400-9536800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:9530600-9541200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:9530800-9535000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:9530800-9540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:9530800-9540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:9530800-9541000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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