Variant report

Variant	rs17157379
Chromosome Location	chr11:62306328-62306329
allele	A/C/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	POLR2A	chr11:62305306-62306875	PANC-1	pancreas:	n/a	n/a
2	WRNIP1	chr11:62306031-62306787	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:62305874-62309598	U87	brain:	n/a	n/a
4	EP300	chr11:62306152-62307270	ECC-1	luminal epithelium:	n/a	n/a
5	EBF1	chr11:62306207-62306589	GM12878	blood:	n/a	chr11:62306357-62306368 chr11:62306356-62306369
6	MAX	chr11:62306287-62307296	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr11:62306274-62307062	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:62306298-62306659	H1-neurons	neurons:	n/a	n/a
9	NFIC	chr11:62306320-62307152	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr11:62306304-62307322	ECC-1	luminal epithelium:	n/a	n/a
11	BCL3	chr11:62305899-62306638	GM12878	blood:	n/a	chr11:62306296-62306305
12	BCL3	chr11:62305991-62306364	GM12878	blood:	n/a	chr11:62306296-62306305
13	EBF1	chr11:62306209-62306453	GM12878	blood:	n/a	chr11:62306357-62306368 chr11:62306356-62306369
14	POLR2A	chr11:62306001-62306895	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:62305310-62315726	PANC-1	pancreas:	n/a	n/a
16	MAX	chr11:62305930-62307647	A549	lung:	n/a	n/a
17	EBF1	chr11:62306185-62306514	GM12878	blood:	n/a	chr11:62306357-62306368 chr11:62306356-62306369
18	POLR2A	chr11:62306061-62306496	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr11:62305722-62306909	U87	brain:	n/a	n/a
20	STAT5A	chr11:62306012-62306399	GM12878	blood:	n/a	n/a
21	NFATC1	chr11:62305941-62306406	GM12878	blood:	n/a	n/a
22	MXI1	chr11:62305663-62307715	IMR90	lung:	n/a	chr11:62307256-62307265
23	POLR2A	chr11:62305955-62309205	U87	brain:	n/a	n/a
24	POLR2A	chr11:62306252-62307647	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr11:62306297-62307388	A549	lung:	n/a	n/a
26	POLR2A	chr11:62305430-62306377	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
2	chr11:62227291..62228812-chr11:62305034..62307510,2	MCF-7	breast:
3	chr11:62304373..62307124-chr11:62312690..62314271,2	K562	blood:
4	chr11:62191811..62194388-chr11:62305306..62307337,2	MCF-7	breast:
5	chr11:62265718..62269742-chr11:62305848..62308508,5	MCF-7	breast:
6	chr11:62263870..62269326-chr11:62305524..62310974,8	MCF-7	breast:

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000255446	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11824660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826949	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62295800-62306400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:62299400-62307600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:62300000-62306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:62300600-62307000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:62301600-62308400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:62301800-62306600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:62302400-62312400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:62302400-62315400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:62302600-62306400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:62302800-62306400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:62302800-62306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:62302800-62306600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:62302800-62309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:62303200-62306400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:62303200-62307600	Genic enhancers	Lung	lung
17	chr11:62303200-62310000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:62303400-62306400	Weak transcription	Brain Anterior Caudate	brain
19	chr11:62303400-62306600	Genic enhancers	Right Ventricle	heart
20	chr11:62303400-62310000	Genic enhancers	Fetal Intestine Small	intestine
21	chr11:62303600-62306800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:62303600-62308600	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr11:62303600-62310000	Genic enhancers	Fetal Stomach	stomach
24	chr11:62303800-62310000	Weak transcription	Primary T cells from cord blood	blood
25	chr11:62304000-62310000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr11:62304200-62306600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:62304400-62306400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:62304400-62306400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:62304400-62306600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:62304400-62307000	Enhancers	Left Ventricle	heart
31	chr11:62304400-62310000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:62304600-62306600	Enhancers	Right Atrium	heart
33	chr11:62304600-62308400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:62304800-62306400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:62304800-62306600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
36	chr11:62304800-62307200	Enhancers	Spleen	Spleen
37	chr11:62305000-62307600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
38	chr11:62305000-62308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:62305000-62309000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:62305000-62310000	Enhancers	Placenta	Placenta
41	chr11:62305400-62306400	Enhancers	Ovary	ovary
42	chr11:62305400-62306400	Enhancers	Psoas Muscle	Psoas
43	chr11:62305400-62306400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:62305400-62306800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:62305400-62307000	Transcr. at gene 5' and 3'	HSMM	muscle
46	chr11:62305400-62307400	Transcr. at gene 5' and 3'	NHLF	lung
47	chr11:62305400-62309400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:62305600-62306400	Enhancers	GM12878-XiMat	blood
49	chr11:62305600-62306600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:62305600-62306600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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