Variant report

Variant	rs7113083
Chromosome Location	chr11:36417744-36417745
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:36417674-36417840	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36409984..36413042-chr11:36415048..36418342,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAG1-5	chr11:36417664-36417746	NONHSAT018821

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10836550	0.84[CEU][hapmap]
rs10836553	1.00[CHB][hapmap]
rs11033596	0.84[CEU][hapmap]
rs11033597	0.84[CEU][hapmap]
rs12785381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895840	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2592557	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs330262	0.95[EUR][1000 genomes]
rs330264	0.84[CEU][hapmap]
rs34123410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34567008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756309	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56898445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484850	1.00[CHB][hapmap]
rs68181316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120381	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs71481974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734902	0.84[CEU][hapmap]
rs734904	1.00[CHB][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
2	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
3	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
8	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:36403000-36417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:36403000-36438200	Weak transcription	Ovary	ovary
11	chr11:36405000-36417800	Weak transcription	HMEC	breast
12	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
14	chr11:36407800-36417800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:36409400-36419600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:36409800-36430000	Weak transcription	Liver	Liver
18	chr11:36412000-36427600	Weak transcription	Placenta	Placenta
19	chr11:36413000-36417800	Weak transcription	Osteobl	bone
20	chr11:36413000-36418800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:36413000-36419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:36413000-36420000	Weak transcription	Esophagus	oesophagus
23	chr11:36413000-36420800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
25	chr11:36413200-36418800	Weak transcription	Brain Anterior Caudate	brain
26	chr11:36413200-36419600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
28	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:36413600-36417800	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:36413800-36428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:36414200-36426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:36414800-36421000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:36414800-36428800	Weak transcription	Stomach Mucosa	stomach
34	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:36415000-36418400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:36415000-36429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:36415200-36419800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:36415200-36421000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:36415400-36418400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:36415400-36418400	Strong transcription	Adipose Nuclei	Adipose
41	chr11:36415400-36418800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:36415400-36419000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:36415400-36419200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:36415400-36419600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:36415400-36419800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:36415400-36429400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:36415600-36418600	Strong transcription	NH-A	brain
48	chr11:36416000-36417800	Weak transcription	NHEK	skin
49	chr11:36416000-36418200	Weak transcription	Brain Substantia Nigra	brain
50	chr11:36416000-36419600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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