Variant report

Variant	rs551320573
Chromosome Location	chr11:67178106-67178107
allele	C/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	POLR2A	chr11:67176203-67178342	NB4	blood:	n/a	n/a
2	POLR2A	chr11:67175796-67179861	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67177946-67178221	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:67178033-67178620	SK-N-MC	brain:	n/a	n/a
5	ZBTB7A	chr11:67177323-67178143	ECC-1	luminal epithelium:	n/a	n/a
6	MTA3	chr11:67175100-67179965	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67176221-67179699	GM12891	blood:	n/a	n/a
8	STAT5A	chr11:67176054-67178296	GM12878	blood:	n/a	chr11:67176338-67176350 chr11:67176192-67176204 chr11:67177642-67177654 chr11:67176831-67176839 chr11:67177842-67177854
9	POLR2A	chr11:67176412-67178416	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67176537-67178308	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67177422-67178432	GM15510	blood:	n/a	n/a
12	POLR2A	chr11:67177318-67178406	GM18505	blood:	n/a	n/a
13	POLR2A	chr11:67177165-67178698	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67178095-67178571	MCF10A-Er-Src	breast:	n/a	n/a
15	MTA3	chr11:67177942-67178237	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67175692-67179867	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:67176168-67179252	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:67177829-67178399	GM18951	blood:	n/a	n/a
19	POLR2A	chr11:67177593-67178140	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:67176013-67179736	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:67177208-67178430	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:67175740-67178488	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:67177156-67178508	K562	blood:	n/a	n/a
24	POLR2A	chr11:67177873-67178438	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:67176293-67178650	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:67176190-67179080	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:67177284-67178205	K562	blood:	n/a	n/a
28	POLR2A	chr11:67176267-67178157	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:67176517-67178524	Raji	blood:	n/a	n/a
30	POLR2A	chr11:67177119-67178356	H1-hESC	embryonic stem cell:	n/a	n/a
31	EBF1	chr11:67177601-67178120	GM12878	blood:	n/a	chr11:67177752-67177763

No.	Distal block	Cell Line	Cell type
1	chr11:67177350..67179552-chr11:67244883..67247528,2	K562	blood:
2	chr11:67176964..67178797-chr11:67202823..67204626,2	K562	blood:
3	chr11:67177049..67178732-chr17:56707856..56710336,2	MCF-7	breast:
4	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
5	chr11:67177386..67180366-chr17:57935264..57937336,3	MCF-7	breast:
6	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:
7	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:

Variant related genes	Relation type
PPP1CA	TF binding region
CARNS1	TF binding region
ENSG00000172663	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription 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 miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers 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	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
25	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
2	chr11:67172600-67178400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr11:67173800-67178400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
4	chr11:67173800-67181000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:67174000-67182200	Enhancers	Brain Hippocampus Middle	brain
6	chr11:67174200-67181200	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:67174400-67179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:67174400-67181200	Enhancers	Brain Angular Gyrus	brain
9	chr11:67174400-67181400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:67175000-67178200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr11:67175400-67181200	Enhancers	Brain Anterior Caudate	brain
12	chr11:67175800-67178400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:67175800-67178600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:67176000-67178200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:67176000-67178200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:67176200-67178400	Enhancers	Right Ventricle	heart
17	chr11:67176400-67182400	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:67176600-67178200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:67176600-67178200	Enhancers	Primary B cells from cord blood	blood
20	chr11:67176600-67179000	Bivalent Enhancer	Placenta	Placenta
21	chr11:67176800-67178200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:67176800-67178200	Enhancers	Lung	lung
23	chr11:67177000-67178200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr11:67177000-67179200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:67177000-67179600	Weak transcription	Esophagus	oesophagus
26	chr11:67177000-67181200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:67177200-67178200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
28	chr11:67177200-67178400	Enhancers	Pancreas	Pancrea
29	chr11:67177200-67178400	Enhancers	Hela-S3	cervix
30	chr11:67177200-67178800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:67177200-67179000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr11:67177200-67179600	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr11:67177400-67178200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:67177400-67178200	Bivalent Enhancer	Colonic Mucosa	Colon
35	chr11:67177400-67178200	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr11:67177400-67178400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:67177400-67178400	Genic enhancers	Dnd41	blood
38	chr11:67177400-67178600	Weak transcription	Gastric	stomach
39	chr11:67177400-67179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:67177400-67181000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:67177400-67181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:67177600-67178200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:67177600-67178200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:67177600-67178400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:67177600-67178400	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:67177600-67178400	Flanking Active TSS	HepG2	liver
47	chr11:67177600-67181000	Enhancers	GM12878-XiMat	blood
48	chr11:67177800-67178200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:67177800-67178200	Genic enhancers	Thymus	Thymus
50	chr11:67177800-67178400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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