Variant report

Variant	rs112113118
Chromosome Location	chr11:47378072-47378073
allele	-/TGC
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	chr11:47377812-47378939	GM12891	blood:	n/a	n/a
2	NR2C2	chr11:47377334-47379030	Hela-S3	cervix:	n/a	n/a
3	TCF3	chr11:47377919-47378237	GM12878	blood:	n/a	chr11:47378114-47378123 chr11:47378147-47378163 chr11:47378151-47378160 chr11:47378189-47378198
4	CTCF	chr11:47377958-47378092	GM19239	blood:	n/a	n/a
5	POU2F2	chr11:47377227-47378491	GM12891	blood:	n/a	n/a
6	STAT5A	chr11:47377591-47379127	K562	blood:	n/a	chr11:47377638-47377646
7	POLR2A	chr11:47378012-47378195	K562	blood:	n/a	n/a
8	POLR2A	chr11:47377453-47378995	GM12878	blood:	n/a	n/a
9	EGR1	chr11:47377606-47378103	K562	blood:	n/a	n/a
10	POLR2A	chr11:47377259-47378915	K562	blood:	n/a	n/a
11	SUZ12	chr11:47377357-47378869	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:47376524-47379003	K562	blood:	n/a	n/a
13	NFATC1	chr11:47377170-47379243	GM12878	blood:	n/a	n/a
14	TCF3	chr11:47377990-47378447	GM12878	blood:	n/a	chr11:47378114-47378123 chr11:47378147-47378163 chr11:47378151-47378160 chr11:47378189-47378198
15	POLR2A	chr11:47377324-47378461	GM12891	blood:	n/a	n/a
16	STAT5A	chr11:47376624-47380261	K562	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
17	NFATC1	chr11:47377156-47379234	GM12878	blood:	n/a	n/a
18	NR2C2	chr11:47377433-47378934	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:47377106-47379195	GM12892	blood:	n/a	n/a
20	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
21	HCFC1	chr11:47375283-47378502	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr11:47377960-47378440	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:47377122-47379262	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:47377233-47379168	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:47376852-47379239	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:47377269-47378430	GM12891	blood:	n/a	n/a
27	STAT5A	chr11:47377226-47379146	GM12878	blood:	n/a	chr11:47377638-47377646
28	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a
29	EGR1	chr11:47376752-47378139	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
30	BCL3	chr11:47377019-47379137	GM12878	blood:	n/a	chr11:47377212-47377225
31	POLR2A	chr11:47377105-47379138	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:47377368-47379035	GM12878	blood:	n/a	n/a
33	STAT5A	chr11:47376783-47380298	GM12878	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
34	PBX3	chr11:47377237-47379073	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:47377075-47379134	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:47375214-47379216	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47377126..47379230-chr11:47428179..47431168,2	MCF-7	breast:
2	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
3	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:
4	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
5	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
6	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
7	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
8	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
9	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
10	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000165915	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv3392657	chr11:47376226-47378724	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3380389	chr11:47376276-47379974	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3337151	chr11:47376276-47380074	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	esv3439899	chr11:47376276-47381174	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	esv3391449	chr11:47377226-47379724	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3325606	chr11:47377916-47378083	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	esv2485373	chr11:47378073-47378077	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv1970561	chr11:47378073-47378078	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
8	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:47377200-47378200	Genic enhancers	Gastric	stomach
12	chr11:47377200-47378400	Genic enhancers	Spleen	Spleen
13	chr11:47377200-47378600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47377200-47378800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
16	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
17	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:47377400-47378200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:47377400-47378400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:47377400-47378400	ZNF genes & repeats	Fetal Kidney	kidney
21	chr11:47377400-47378800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:47377400-47379000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:47377400-47380400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr11:47377600-47378200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:47377600-47378400	Weak transcription	Lung	lung
26	chr11:47377600-47378600	Strong transcription	Pancreas	Pancrea
27	chr11:47377600-47378800	Strong transcription	Adipose Nuclei	Adipose
28	chr11:47377600-47380200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:47377600-47380800	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:47377600-47381000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:47377600-47381000	Weak transcription	Placenta	Placenta
32	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
35	chr11:47377800-47378400	Enhancers	Esophagus	oesophagus
36	chr11:47377800-47378600	Weak transcription	Fetal Lung	lung
37	chr11:47377800-47379400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:47377800-47379400	Weak transcription	Right Ventricle	heart
39	chr11:47377800-47379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:47377800-47379800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:47377800-47380200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:47377800-47380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:47377800-47382200	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:47377800-47382600	Weak transcription	Fetal Heart	heart
45	chr11:47377800-47382800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:47378000-47378200	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr11:47378000-47378400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:47378000-47380000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:47378000-47380200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:47378000-47381400	Weak transcription	Colonic Mucosa	Colon

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