Variant report

Variant	rs11133474
Chromosome Location	chr4:57905807-57905808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10012869	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10866441	0.83[GIH][hapmap];0.90[TSI][hapmap]
rs1105434	0.83[GIH][hapmap];0.90[TSI][hapmap]
rs11133472	1.00[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11133473	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11573105	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11573111	0.92[CEU][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11573113	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1877669	0.80[GIH][hapmap];0.88[TSI][hapmap]
rs2412772	0.93[TSI][hapmap]
rs3000	0.83[GIH][hapmap];0.90[TSI][hapmap]
rs3755904	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3755906	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4865172	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs6838948	0.87[TSI][hapmap]
rs7680734	0.83[GIH][hapmap];0.90[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11133474	RP11-738E22.3	cis	Esophagus Mucosa	GTEx
rs11133474	POLR2B	cis	parietal	SCAN
rs11133474	POLR2B	cis	cerebellum	SCAN
rs11133474	RPL21P44	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
3	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
6	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
7	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
8	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas
9	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:57898200-57908000	Weak transcription	Fetal Lung	lung
11	chr4:57898200-57910000	Weak transcription	Lung	lung
12	chr4:57898400-57906800	Weak transcription	Colonic Mucosa	Colon
13	chr4:57898800-57908000	Weak transcription	NHDF-Ad	bronchial
14	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
16	chr4:57899400-57909800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:57899600-57909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:57899600-57913000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:57899800-57906400	Weak transcription	Adipose Nuclei	Adipose
22	chr4:57899800-57906600	Weak transcription	Fetal Kidney	kidney
23	chr4:57899800-57909400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:57900000-57906400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:57900000-57906400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:57900000-57906400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:57900000-57906600	Weak transcription	Ovary	ovary
28	chr4:57902200-57907200	Strong transcription	HUVEC	blood vessel
29	chr4:57902600-57908400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:57902800-57907200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:57903600-57909000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:57904400-57906000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:57904400-57906000	Enhancers	A549	lung
34	chr4:57904400-57906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:57904400-57907200	Genic enhancers	HSMMtube	muscle
36	chr4:57904400-57907400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:57904400-57908000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:57904400-57910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:57904600-57906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:57904600-57907000	Strong transcription	NH-A	brain
41	chr4:57904600-57908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:57904600-57909200	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:57904600-57909200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:57904600-57909800	Weak transcription	Brain Anterior Caudate	brain
45	chr4:57904800-57906600	Weak transcription	Fetal Heart	heart
46	chr4:57904800-57906600	Weak transcription	Fetal Stomach	stomach
47	chr4:57904800-57906800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:57904800-57908800	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:57904800-57912200	Weak transcription	Brain Angular Gyrus	brain
50	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain

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