Variant report

Variant	rs11133472
Chromosome Location	chr4:57904387-57904388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57903912..57904882-chr4:58024067..58025032,10	MCF-7	breast:
2	chr4:57903873..57904396-chr4:58029440..58029953,2	MCF-7	breast:
3	chr4:57826172..57827120-chr4:57904247..57904761,2	MCF-7	breast:
4	chr20:46292549..46293115-chr4:57904251..57904779,2	MCF-7	breast:
5	chr4:57842421..57844216-chr4:57903330..57905315,2	K562	blood:
6	chr4:57898269..57900679-chr4:57902377..57904496,2	K562	blood:
7	chr4:57903844..57905210-chr4:58029367..58030801,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10016108	1.00[CHB][hapmap]
rs10866441	0.87[GIH][hapmap];0.90[TSI][hapmap]
rs1105434	0.87[GIH][hapmap];0.90[TSI][hapmap]
rs11133473	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11133474	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]
rs11573041	1.00[CHB][hapmap]
rs11573111	0.92[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11573115	0.85[YRI][hapmap]
rs11573128	1.00[CHB][hapmap]
rs11732394	1.00[CHB][hapmap]
rs13125082	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13146090	1.00[CHB][hapmap]
rs13146153	1.00[CHB][hapmap]
rs1618761	1.00[CHB][hapmap]
rs17087358	1.00[CHB][hapmap]
rs17181222	0.87[YRI][hapmap]
rs17183291	1.00[CHB][hapmap]
rs1718846	1.00[CHB][hapmap]
rs1718848	1.00[CHB][hapmap]
rs1877669	0.84[GIH][hapmap];0.88[TSI][hapmap]
rs2412772	0.93[TSI][hapmap]
rs3000	0.87[GIH][hapmap];0.90[TSI][hapmap]
rs35460070	0.83[ASN][1000 genomes]
rs3755906	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs4109037	1.00[CHB][hapmap]
rs41495551	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs4865172	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4865176	1.00[CHB][hapmap]
rs4865177	1.00[CHB][hapmap]
rs56296916	0.83[ASN][1000 genomes]
rs6838948	0.87[TSI][hapmap]
rs7656865	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs7680734	0.87[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11133472	KIAA1211	cis	parietal	SCAN
rs11133472	POLR2B	cis	parietal	SCAN
rs11133472	RP11-738E22.3	cis	Esophagus Mucosa	GTEx
rs11133472	RPL21P44	cis	parietal	SCAN
rs11133472	POLR2B	cis	cerebellum	SCAN
rs11133472	SRP72	cis	parietal	SCAN

Chromatin state (count:92 , 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	chr4:57890400-57905600	Strong transcription	Osteobl	bone
4	chr4:57892000-57904400	Weak transcription	Fetal Heart	heart
5	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
8	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
9	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
10	chr4:57894800-57904400	Weak transcription	Hela-S3	cervix
11	chr4:57896600-57905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas
13	chr4:57897800-57904400	Weak transcription	K562	blood
14	chr4:57898000-57904400	Weak transcription	Brain Germinal Matrix	brain
15	chr4:57898000-57905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:57898200-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:57898200-57904400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:57898200-57908000	Weak transcription	Fetal Lung	lung
20	chr4:57898200-57910000	Weak transcription	Lung	lung
21	chr4:57898400-57904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:57898400-57905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:57898400-57906800	Weak transcription	Colonic Mucosa	Colon
24	chr4:57898800-57904400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:57898800-57905400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:57898800-57908000	Weak transcription	NHDF-Ad	bronchial
27	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:57899000-57904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:57899000-57904400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:57899000-57904400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:57899200-57904400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
33	chr4:57899400-57904400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:57899400-57904400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:57899400-57905400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:57899400-57905600	Weak transcription	Placenta	Placenta
37	chr4:57899400-57909800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:57899600-57904400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:57899600-57904400	Weak transcription	A549	lung
41	chr4:57899600-57904400	Weak transcription	HMEC	breast
42	chr4:57899600-57905400	Weak transcription	NHLF	lung
43	chr4:57899600-57909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:57899600-57913000	Weak transcription	Fetal Intestine Small	intestine
45	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:57899800-57906400	Weak transcription	Adipose Nuclei	Adipose
47	chr4:57899800-57906600	Weak transcription	Fetal Kidney	kidney
48	chr4:57899800-57909400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:57900000-57904600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:57900000-57905200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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