Variant report

Variant	rs542342157
Chromosome Location	chr11:65406541-65406542
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	MTA3	chr11:65405158-65406719	GM12878	blood:	n/a	n/a
2	EBF1	chr11:65405836-65406592	GM12878	blood:	n/a	chr11:65406115-65406126
3	FOXM1	chr11:65406218-65406552	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65405255-65406578	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65404916-65406624	PFSK-1	brain:	n/a	n/a
6	PAX5	chr11:65405398-65406558	GM12878	blood:	n/a	chr11:65405423-65405432 chr11:65406340-65406349
7	NFIC	chr11:65405357-65406554	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:65405122-65406727	GM12892	blood:	n/a	n/a
9	MXI1	chr11:65404961-65406714	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:65405281-65406557	GM12878	blood:	n/a	n/a
11	NFIC	chr11:65405779-65406591	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr11:65405019-65406689	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:65405267-65406562	GM12878	blood:	n/a	n/a
14	RUNX3	chr11:65405235-65406544	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:65405091-65406626	U87	brain:	n/a	n/a
16	STAT5A	chr11:65406024-65406603	GM12878	blood:	n/a	n/a
17	PML	chr11:65405032-65406695	GM12878	blood:	n/a	n/a
18	POU2F2	chr11:65405503-65406590	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:65405255-65406623	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:65405215-65408445	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:65404870-65410346	GM12878	blood:	n/a	n/a
22	ELF1	chr11:65405203-65406600	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:65405042-65406670	PFSK-1	brain:	n/a	n/a
24	HCFC1	chr11:65404897-65406682	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:65405002-65406700	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:65405280-65406634	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:65405207-65406553	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:65405181-65406586	K562	blood:	n/a	n/a
29	POLR2A	chr11:65405031-65406574	SK-N-MC	brain:	n/a	n/a
30	RUNX3	chr11:65405191-65406595	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:65406391-65406601	Hela-S3	cervix:	n/a	n/a
32	STAT5A	chr11:65405138-65406671	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:65405180-65406580	HL-60	blood:	n/a	n/a
34	ESRRA	chr11:65404865-65408545	GM12878	blood:	n/a	chr11:65407590-65407609 chr11:65405025-65405043 chr11:65407594-65407607 chr11:65407590-65407604 chr11:65407860-65407873 chr11:65407733-65407746
35	POLR2A	chr11:65405146-65406574	GM12892	blood:	n/a	n/a
36	MAZ	chr11:65405011-65406567	IMR90	lung:	n/a	chr11:65406393-65406403 chr11:65406147-65406157
37	POLR2A	chr11:65405262-65406617	GM12892	blood:	n/a	n/a
38	BCL3	chr11:65405338-65406562	GM12878	blood:	n/a	chr11:65405481-65405494 chr11:65406340-65406349
39	POLR2A	chr11:65405091-65406620	U87	brain:	n/a	n/a
40	POLR2A	chr11:65404988-65406673	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
2	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
3	chr11:65344954..65347846-chr11:65406029..65407585,2	MCF-7	breast:
4	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
5	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:
6	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:

Variant related genes	Relation type
SIPA1	TF binding region
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000197136	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
6	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak 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	92 gene(s)	inside rSNPs	diseases
15	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
16	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
18	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
19	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
20	esv1831135	chr11:65387352-65420872	Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv897749	chr11:65401748-65420760	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	39 gene(s)	inside rSNPs	diseases
23	nsv897750	chr11:65401748-65421476	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
25	nsv897752	chr11:65405300-65421476	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
26	nsv897753	chr11:65405300-65422693	Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers 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 miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
27	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	59 gene(s)	inside rSNPs	diseases
28	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
29	nsv897756	chr11:65406393-65425167	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	nsv897757	chr11:65406393-65427568	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65400800-65406600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65405000-65406600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:65405000-65406600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr11:65405000-65406600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:65405200-65406600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:65405200-65406600	Flanking Active TSS	Liver	Liver
7	chr11:65405200-65406600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:65405200-65406600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:65405200-65406600	Active TSS	HSMMtube	muscle
10	chr11:65405200-65406600	Flanking Active TSS	NHEK	skin
11	chr11:65405200-65406800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:65405200-65406800	Flanking Active TSS	Fetal Muscle Trunk	muscle
13	chr11:65405200-65409600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:65405200-65409600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:65405400-65406600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:65405400-65406600	Active TSS	Right Atrium	heart
17	chr11:65405400-65406600	Active TSS	Small Intestine	intestine
18	chr11:65405400-65406600	Flanking Active TSS	Dnd41	blood
19	chr11:65405400-65407000	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:65405400-65407200	Active TSS	Colon Smooth Muscle	Colon
21	chr11:65405600-65406600	Flanking Active TSS	Placenta	Placenta
22	chr11:65405600-65406600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr11:65405600-65406600	Flanking Active TSS	HUVEC	blood vessel
24	chr11:65405600-65407800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
25	chr11:65405800-65406600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:65405800-65406600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:65405800-65406600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:65405800-65406600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:65405800-65406600	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr11:65405800-65406600	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr11:65405800-65406600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:65405800-65406600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr11:65405800-65406600	Flanking Active TSS	Fetal Lung	lung
34	chr11:65405800-65406600	Flanking Active TSS	Fetal Stomach	stomach
35	chr11:65405800-65406600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:65405800-65406600	Flanking Active TSS	Right Ventricle	heart
37	chr11:65405800-65406600	Flanking Active TSS	Hela-S3	cervix
38	chr11:65405800-65406600	Flanking Active TSS	HepG2	liver
39	chr11:65405800-65406600	Flanking Active TSS	HSMM	muscle
40	chr11:65405800-65407000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:65405800-65407800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr11:65405800-65408800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:65405800-65409800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65406000-65406600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:65406000-65406600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:65406000-65406600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:65406000-65406600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:65406000-65406600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:65406000-65406600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr11:65406000-65406600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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