Variant report

Variant	rs57948595
Chromosome Location	chr11:9782598-9782599
allele	A/G
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	RCOR1	chr11:9779374-9782715	IMR90	lung:	n/a	n/a
2	MXI1	chr11:9779263-9782690	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9683816..9686109-chr11:9781623..9784319,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SBF2-3	chr11:9782514-9782682	NONHSAT017942

Variant related genes	Relation type
ENSG00000245522	TF binding region
ENSG00000133789	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11821145	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822070	1.00[AMR][1000 genomes]
rs11823024	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823620	1.00[AMR][1000 genomes]
rs11824133	1.00[AMR][1000 genomes]
rs11824944	1.00[AMR][1000 genomes]
rs11826573	1.00[AMR][1000 genomes]
rs55805230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56004091	1.00[AMR][1000 genomes]
rs57233768	1.00[AMR][1000 genomes]
rs57297566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57735272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58024914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58717942	1.00[AMR][1000 genomes]
rs58982478	1.00[AMR][1000 genomes]
rs73402415	1.00[AMR][1000 genomes]
rs73412193	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414129	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416199	1.00[AMR][1000 genomes]
rs73418575	1.00[AMR][1000 genomes]
rs73418583	1.00[AMR][1000 genomes]
rs73418601	1.00[AMR][1000 genomes]
rs73420636	1.00[AMR][1000 genomes]
rs73420638	1.00[AMR][1000 genomes]
rs73420639	1.00[AMR][1000 genomes]
rs73420640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780200-9786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9780600-9782600	Enhancers	Ovary	ovary
3	chr11:9780600-9782600	Enhancers	HMEC	breast
4	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
5	chr11:9780800-9782600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:9780800-9782600	Enhancers	Fetal Stomach	stomach
7	chr11:9780800-9783600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:9780800-9786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:9780800-9788600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:9780800-9788600	Enhancers	Fetal Heart	heart
11	chr11:9780800-9794200	Enhancers	Fetal Muscle Leg	muscle
12	chr11:9781000-9782600	Enhancers	Colon Smooth Muscle	Colon
13	chr11:9781000-9782600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr11:9781000-9782800	Enhancers	HSMMtube	muscle
15	chr11:9781000-9783800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:9781000-9783800	Enhancers	NH-A	brain
17	chr11:9781000-9784400	Enhancers	NHLF	lung
18	chr11:9781000-9786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:9781200-9782600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:9781200-9782600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:9781200-9782600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:9781200-9782600	Enhancers	Brain Angular Gyrus	brain
23	chr11:9781200-9782600	Enhancers	Left Ventricle	heart
24	chr11:9781200-9782600	Enhancers	Right Atrium	heart
25	chr11:9781200-9783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:9781200-9789400	Enhancers	Placenta	Placenta
27	chr11:9781400-9782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:9781400-9782600	Enhancers	Brain Hippocampus Middle	brain
29	chr11:9781400-9783200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:9781400-9783800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:9781400-9786600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
34	chr11:9781600-9782600	Enhancers	Adipose Nuclei	Adipose
35	chr11:9781600-9782600	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:9781600-9782600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:9781600-9782600	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:9781600-9782600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:9781600-9783600	Weak transcription	Gastric	stomach
40	chr11:9781600-9783800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:9781600-9785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:9781600-9786400	Weak transcription	Fetal Kidney	kidney
43	chr11:9781600-9786600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:9781600-9786800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
47	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
48	chr11:9781800-9782600	Enhancers	Brain Anterior Caudate	brain
49	chr11:9781800-9782600	Enhancers	Fetal Lung	lung
50	chr11:9781800-9782600	Enhancers	HepG2	liver

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