Variant report

Variant	rs577597128
Chromosome Location	chr11:67139218-67139219
allele	-/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	chr11:67138563-67140098	HL-60	blood:	n/a	n/a
2	CTCF	chr11:67138869-67139245	IMR90	lung:	n/a	chr11:67139137-67139150
3	SP1	chr11:67138681-67140293	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
4	MAX	chr11:67138840-67139240	K562	blood:	n/a	chr11:67139214-67139223
5	BCL3	chr11:67138621-67140141	A549	lung:	n/a	chr11:67139091-67139104
6	CTCF	chr11:67138915-67139401	GM19238	blood:	n/a	chr11:67139137-67139150
7	CTCF	chr11:67139140-67139290	HAc	cerebellar:	n/a	n/a
8	RAD21	chr11:67138888-67139418	A549	lung:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
9	SMC3	chr11:67138909-67139221	GM12878	blood:	n/a	chr11:67139107-67139117
10	USF1	chr11:67138844-67139527	A549	lung:	n/a	n/a
11	CTCF	chr11:67138844-67139238	HepG2	liver:	n/a	chr11:67139137-67139150
12	TBL1XR1	chr11:67139147-67139252	K562	blood:	n/a	n/a
13	POLR2A	chr11:67134317-67140357	U87	brain:	n/a	n/a
14	HDAC2	chr11:67138942-67139236	K562	blood:	n/a	n/a
15	EP300	chr11:67138695-67140234	A549	lung:	n/a	chr11:67140185-67140201
16	FOSL2	chr11:67138547-67139777	A549	lung:	n/a	n/a
17	ZNF143	chr11:67138948-67139230	GM12878	blood:	n/a	n/a
18	RUNX3	chr11:67138854-67139227	GM12878	blood:	n/a	n/a
19	TAF1	chr11:67138969-67141226	A549	lung:	n/a	n/a
20	RAD21	chr11:67138872-67139244	IMR90	lung:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
21	MYC	chr11:67139178-67139594	MCF-7	breast:	n/a	chr11:67139214-67139223
22	SMC3	chr11:67138715-67139435	SK-N-SH	brain:	n/a	chr11:67139107-67139117
23	CTCF	chr11:67138784-67139334	MCF-7	breast:	n/a	chr11:67139137-67139150
24	RAD21	chr11:67138942-67139229	Hela-S3	cervix:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
25	POLR2A	chr11:67131258-67139775	A549	lung:	n/a	n/a
26	POLR2A	chr11:67138593-67142764	PANC-1	pancreas:	n/a	n/a
27	REST	chr11:67138541-67140080	A549	lung:	n/a	n/a
28	ZNF143	chr11:67138938-67139257	H1-hESC	embryonic stem cell:	n/a	n/a
29	BHLHE40	chr11:67138833-67139369	K562	blood:	n/a	n/a
30	CTCF	chr11:67138891-67139244	K562	blood:	n/a	chr11:67139137-67139150
31	RAD21	chr11:67138772-67139839	A549	lung:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
32	TCF12	chr11:67137930-67144339	A549	lung:	n/a	chr11:67138193-67138203 chr11:67139958-67139965 chr11:67139242-67139249 chr11:67141661-67141671 chr11:67144056-67144066 chr11:67138192-67138199 chr11:67142524-67142532 chr11:67139957-67139967 chr11:67142516-67142526 chr11:67139956-67139963
33	PAX5	chr11:67139187-67139434	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67138898-67140078	A549	lung:	n/a	n/a
35	ZBTB7A	chr11:67138868-67139285	K562	blood:	n/a	n/a
36	CTCF	chr11:67138848-67139249	K562	blood:	n/a	chr11:67139137-67139150
37	POLR2A	chr11:67139103-67139640	ProgFib	skin:	n/a	n/a
38	POLR2A	chr11:67138915-67142701	MCF-7	breast:	n/a	n/a
39	CTCFL	chr11:67138938-67139222	K562	blood:	n/a	n/a
40	CTCF	chr11:67138942-67139234	GM12878	blood:	n/a	chr11:67139137-67139150
41	REST	chr11:67138734-67139713	A549	lung:	n/a	n/a
42	CTCF	chr11:67138834-67139368	K562	blood:	n/a	chr11:67139137-67139150
43	SMC3	chr11:67138882-67139272	Hela-S3	cervix:	n/a	chr11:67139107-67139117
44	SP1	chr11:67138783-67140235	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
45	MXI1	chr11:67136428-67142794	IMR90	lung:	n/a	n/a
46	SIN3AK20	chr11:67138673-67139265	A549	lung:	n/a	n/a
47	POLR2A	chr11:67137865-67142671	K562	blood:	n/a	n/a
48	SIN3AK20	chr11:67138937-67139637	A549	lung:	n/a	n/a
49	CTCF	chr11:67138358-67139875	A549	lung:	n/a	chr11:67139137-67139150
50	MAZ	chr11:67138879-67142345	K562	blood:	n/a	chr11:67141256-67141266 chr11:67141367-67141377 chr11:67139214-67139223

No.	Distal block	Cell Line	Cell type
1	chr11:67078307..67080022-chr11:67137493..67139530,2	MCF-7	breast:
2	chr11:67085099..67087143-chr11:67137966..67139875,2	K562	blood:
3	chr11:67138591..67140616-chr11:67149692..67150721,9	MCF-7	breast:
4	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
5	chr11:67138235..67140028-chr11:67271265..67273106,2	MCF-7	breast:
6	chr11:66622570..66624423-chr11:67139168..67140990,2	MCF-7	breast:
7	chr11:67006828..67010582-chr11:67138867..67142453,4	MCF-7	breast:
8	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
9	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
10	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
11	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
12	chr11:67124495..67124996-chr11:67138599..67139534,2	MCF-7	breast:
13	chr11:67138865..67141337-chr11:67205315..67206965,2	K562	blood:
14	chr11:67138692..67139585-chr11:67149707..67150561,3	MCF-7	breast:
15	chr11:67124026..67125141-chr11:67138743..67139521,3	MCF-7	breast:
16	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
17	chr11:67088208..67091047-chr11:67138396..67140194,2	MCF-7	breast:
18	chr11:67138420..67140492-chr11:67271610..67274474,2	K562	blood:
19	chr11:67138426..67140382-chr11:67217472..67219205,2	K562	blood:
20	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:
21	chr11:66886882..66888512-chr11:67137835..67140678,2	MCF-7	breast:
22	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
23	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:

Variant related genes	Relation type
CLCF1	TF binding region
ENSG00000213402	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172932	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS 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 target site	85 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3404685	chr11:67139076-67142024	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
15	esv3326147	chr11:67139201-67141749	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	38 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	chr11:67131200-67139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:67132800-67139600	Weak transcription	Aorta	Aorta
3	chr11:67134400-67139400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:67135000-67139400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:67135200-67139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:67135400-67139400	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:67135400-67139400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:67135400-67139600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:67136200-67139800	Weak transcription	NHEK	skin
10	chr11:67136600-67139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:67136600-67139400	Enhancers	HUVEC	blood vessel
12	chr11:67136600-67139600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:67136600-67139600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:67136600-67140000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:67136800-67139800	Transcr. at gene 5' and 3'	A549	lung
16	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
17	chr11:67137000-67139600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:67137000-67139600	Enhancers	Ovary	ovary
19	chr11:67137000-67140000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:67137200-67139600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:67137400-67139400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr11:67137400-67139800	Enhancers	Fetal Heart	heart
23	chr11:67137600-67139400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr11:67137600-67139400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:67137600-67139400	Transcr. at gene 5' and 3'	HSMM	muscle
26	chr11:67137600-67139600	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr11:67137600-67140200	Bivalent Enhancer	Dnd41	blood
28	chr11:67137800-67139400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:67137800-67139400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr11:67137800-67139800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:67138000-67139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:67138000-67139600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:67138000-67139600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:67138000-67139600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:67138000-67139600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr11:67138000-67139800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr11:67138000-67139800	Enhancers	Stomach Mucosa	stomach
38	chr11:67138000-67139800	Flanking Active TSS	NHLF	lung
39	chr11:67138000-67140000	Flanking Active TSS	NH-A	brain
40	chr11:67138200-67139400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:67138200-67139400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:67138200-67139400	Enhancers	Adipose Nuclei	Adipose
43	chr11:67138200-67139400	Enhancers	Gastric	stomach
44	chr11:67138200-67139400	Enhancers	Right Ventricle	heart
45	chr11:67138200-67139600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:67138200-67139600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:67138200-67139600	Enhancers	Placenta	Placenta
48	chr11:67138200-67139600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr11:67138200-67139800	Flanking Active TSS	Fetal Lung	lung
50	chr11:67138200-67140000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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