Variant report

Variant	rs3322
Chromosome Location	chr18:9536691-9536692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9536152..9537678-chr18:9540300..9542905,2	K562	blood:
2	chr18:9534609..9536711-chr18:9542982..9545510,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16955192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124297	1.00[CHD][hapmap]
rs28778582	0.93[EUR][1000 genomes]
rs62086078	0.81[AMR][1000 genomes]
rs62086079	0.81[AMR][1000 genomes]
rs62086098	0.81[AMR][1000 genomes]
rs62086100	0.81[AMR][1000 genomes]
rs62086101	0.81[AMR][1000 genomes]
rs62086104	0.81[AMR][1000 genomes]
rs62086107	0.81[AMR][1000 genomes]
rs62086109	0.81[AMR][1000 genomes]
rs62086112	0.81[AMR][1000 genomes]
rs62086113	0.81[AMR][1000 genomes]
rs62086116	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62086122	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62086123	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62086125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62086126	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62086148	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086149	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086150	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086153	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62086157	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087360	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62087361	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087362	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087366	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087369	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087373	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62087374	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087376	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087379	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087397	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62087408	0.94[EUR][1000 genomes]
rs62087409	0.94[EUR][1000 genomes]
rs62087410	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62087413	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62087423	1.00[AFR][1000 genomes]
rs62087424	1.00[AFR][1000 genomes]
rs62087455	1.00[AFR][1000 genomes]
rs650464	1.00[CHD][hapmap]
rs7227801	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7233885	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs7245045	1.00[CHD][hapmap]
rs8098931	1.00[CHD][hapmap]
rs9949213	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs9952325	0.93[EUR][1000 genomes]
rs9955578	0.93[EUR][1000 genomes]
rs9957720	0.93[EUR][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	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
8	nsv962485	chr18:9536419-9537703	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3322	RALBP1	cis	Whole Blood	GTEx
rs3322	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	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
2	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
3	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
4	chr18:9521800-9540400	Strong transcription	Dnd41	blood
5	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
12	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
13	chr18:9526600-9540400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
17	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:9529600-9539000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr18:9529800-9538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:9529800-9540600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr18:9529800-9541000	Strong transcription	Primary T cells from cord blood	blood
22	chr18:9530000-9536800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:9530000-9536800	Strong transcription	K562	blood
24	chr18:9530000-9538200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:9530000-9538400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:9530000-9538800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr18:9530000-9540600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr18:9530200-9538200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:9530200-9539000	Strong transcription	Left Ventricle	heart
30	chr18:9530200-9540600	Strong transcription	Fetal Lung	lung
31	chr18:9530200-9540800	Strong transcription	Thymus	Thymus
32	chr18:9530400-9536800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr18:9530600-9541200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr18:9530800-9540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:9530800-9540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:9530800-9541000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:9531200-9540400	Strong transcription	Primary B cells from cord blood	blood
38	chr18:9531400-9537200	Strong transcription	HSMMtube	muscle
39	chr18:9531400-9538000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr18:9531400-9540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr18:9531600-9537000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:9531600-9540600	Strong transcription	Liver	Liver
43	chr18:9531600-9540600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr18:9531600-9540800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr18:9531800-9536800	Strong transcription	Small Intestine	intestine
46	chr18:9531800-9538800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr18:9532000-9536800	Strong transcription	Pancreas	Pancrea
48	chr18:9532000-9539000	Strong transcription	Lung	lung
49	chr18:9532200-9537200	Strong transcription	Brain Germinal Matrix	brain
50	chr18:9532200-9541800	Strong transcription	Fetal Intestine Small	intestine

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