Variant report

Variant	rs29085
Chromosome Location	chr18:9960853-9960854
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	chr18:9613945..9616292-chr18:9959152..9961269,2	K562	blood:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13381594	1.00[YRI][hapmap]
rs16955729	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1056479	chr18:9949274-10081418	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs29085	RALBP1	cis	cerebellum	SCAN
rs29085	VAPA	cis	multi-tissue	Pritchard
rs29085	SEH1L	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9929400-9965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:9939800-9961200	Weak transcription	Gastric	stomach
3	chr18:9940000-9961200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:9940000-9968200	Weak transcription	Right Ventricle	heart
5	chr18:9940800-9961000	Weak transcription	Fetal Brain Male	brain
6	chr18:9940800-9962800	Weak transcription	Psoas Muscle	Psoas
7	chr18:9951600-9965800	Weak transcription	Pancreas	Pancrea
8	chr18:9952000-9961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:9952200-9964200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:9952400-9961000	Weak transcription	Fetal Intestine Small	intestine
11	chr18:9953600-9961000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr18:9953600-9961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr18:9953600-9965200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr18:9953600-9965800	Weak transcription	Lung	lung
15	chr18:9953600-9965800	Weak transcription	Spleen	Spleen
16	chr18:9953600-9966200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:9953800-9965600	Weak transcription	Aorta	Aorta
18	chr18:9954000-9966200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:9954000-9968000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:9954200-9965800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr18:9954200-9966200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:9954400-9961000	Weak transcription	HSMMtube	muscle
23	chr18:9954400-9961200	Weak transcription	Ovary	ovary
24	chr18:9954400-9961400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:9954400-9966000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:9954400-9966200	Weak transcription	Left Ventricle	heart
27	chr18:9954600-9966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr18:9954600-9966200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr18:9954600-9966400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr18:9954800-9961000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:9954800-9961000	Weak transcription	Brain Anterior Caudate	brain
32	chr18:9955200-9961000	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:9955200-9961400	Weak transcription	Brain Germinal Matrix	brain
34	chr18:9955200-9965800	Weak transcription	NH-A	brain
35	chr18:9955200-9967000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr18:9955200-9971600	Weak transcription	Fetal Kidney	kidney
37	chr18:9955400-9965800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:9955600-9961000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr18:9955600-9961200	Weak transcription	Colon Smooth Muscle	Colon
40	chr18:9955800-9961200	Weak transcription	Placenta	Placenta
41	chr18:9955800-9962600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:9955800-9965800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:9956000-9961000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr18:9956000-9961000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:9956000-9965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:9956000-9965800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr18:9956000-9965800	Weak transcription	Dnd41	blood
48	chr18:9956000-9966200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr18:9956400-9961000	Weak transcription	HSMM	muscle
50	chr18:9956400-9965800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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