Variant report

Variant	rs2249555
Chromosome Location	chr11:32925802-32925803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32924828..32927562-chr11:32932566..32935396,2	MCF-7	breast:
2	chr11:32850385..32853089-chr11:32925250..32927844,2	MCF-7	breast:
3	chr11:32925593..32927365-chr11:32932559..32934315,2	K562	blood:
4	chr11:32925698..32927365-chr11:32931913..32934059,2	K562	blood:
5	chr11:32919542..32926976-chr11:32927671..32932534,9	K562	blood:
6	chr11:32925579..32928336-chr11:32954310..32958522,3	K562	blood:
7	chr11:32924821..32927100-chr11:32938011..32939740,2	MCF-7	breast:
8	chr11:32925134..32927597-chr11:32928287..32929903,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135378	Chromatin interaction
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10767973	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767977	1.00[ASN][1000 genomes]
rs10835991	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835996	1.00[ASN][1000 genomes]
rs10835997	1.00[ASN][1000 genomes]
rs11032058	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032060	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032072	1.00[ASN][1000 genomes]
rs11032073	1.00[ASN][1000 genomes]
rs11032074	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11032076	1.00[ASN][1000 genomes]
rs12224002	1.00[ASN][1000 genomes]
rs1961248	0.85[AMR][1000 genomes]
rs1961543	0.85[AMR][1000 genomes]
rs2092657	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419783	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746036	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746037	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786800	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755476	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756355	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756373	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4756385	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs589450	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs602126	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484610	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652963	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104368	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108574	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7109890	1.00[ASN][1000 genomes]
rs7118330	1.00[ASN][1000 genomes]
rs7128509	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73474587	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395190	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7481844	0.81[AMR][1000 genomes]
rs7481878	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7941237	1.00[ASN][1000 genomes]
rs7944318	1.00[ASN][1000 genomes]
rs9919531	1.00[ASN][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	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2249555	PRRG4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32916000-32953200	Weak transcription	Pancreas	Pancrea
2	chr11:32916200-32926800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:32916200-32932400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:32916200-32935200	Weak transcription	Aorta	Aorta
5	chr11:32916200-32953200	Weak transcription	Right Ventricle	heart
6	chr11:32916400-32926600	Weak transcription	Adipose Nuclei	Adipose
7	chr11:32916400-32926600	Weak transcription	Osteobl	bone
8	chr11:32916400-32940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:32916400-32952800	Weak transcription	Fetal Intestine Small	intestine
10	chr11:32916400-32953200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:32916400-32953400	Weak transcription	NHLF	lung
12	chr11:32916400-32953600	Weak transcription	NHDF-Ad	bronchial
13	chr11:32916600-32940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:32917000-32929600	Weak transcription	HUVEC	blood vessel
15	chr11:32917000-32936000	Weak transcription	Thymus	Thymus
16	chr11:32917000-32952800	Weak transcription	Primary B cells from cord blood	blood
17	chr11:32917200-32926600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:32917400-32926600	Weak transcription	Fetal Kidney	kidney
19	chr11:32917400-32926800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:32917400-32951000	Weak transcription	HSMM	muscle
21	chr11:32917400-32953000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:32917600-32926200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:32917600-32926200	Weak transcription	Fetal Lung	lung
24	chr11:32917600-32952800	Weak transcription	Fetal Stomach	stomach
25	chr11:32918000-32953200	Weak transcription	Fetal Brain Female	brain
26	chr11:32918600-32953600	Weak transcription	Fetal Brain Male	brain
27	chr11:32918800-32934600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:32919400-32926400	Weak transcription	Fetal Heart	heart
29	chr11:32919600-32926200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:32919600-32953000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:32921200-32952800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:32921200-32953200	Weak transcription	Primary T cells from cord blood	blood
33	chr11:32921400-32926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:32921400-32927400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:32921400-32932600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:32921400-32951000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:32921600-32926000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:32921600-32929600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:32921600-32939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:32921600-32940800	Weak transcription	Small Intestine	intestine
41	chr11:32921800-32927000	Weak transcription	NH-A	brain
42	chr11:32921800-32935000	Weak transcription	HepG2	liver
43	chr11:32921800-32940200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:32921800-32941400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:32921800-32950800	Weak transcription	Fetal Thymus	thymus
46	chr11:32922400-32926000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:32922400-32933200	Weak transcription	Dnd41	blood
48	chr11:32922400-32935600	Weak transcription	A549	lung
49	chr11:32922600-32927200	Weak transcription	GM12878-XiMat	blood
50	chr11:32922600-32940800	Weak transcription	Fetal Intestine Large	intestine

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