Variant report

Variant	rs530230635
Chromosome Location	chr11:67140025-67140026
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	ZBTB7A	chr11:67139504-67140234	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr11:67138563-67140098	HL-60	blood:	n/a	n/a
3	SIN3AK20	chr11:67139835-67142256	MCF-7	breast:	n/a	n/a
4	SP1	chr11:67138681-67140293	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
5	SIN3AK20	chr11:67139644-67140072	PANC-1	pancreas:	n/a	n/a
6	BCL3	chr11:67138621-67140141	A549	lung:	n/a	chr11:67139091-67139104
7	TAF1	chr11:67139989-67141454	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:67134317-67140357	U87	brain:	n/a	n/a
9	EP300	chr11:67138695-67140234	A549	lung:	n/a	chr11:67140185-67140201
10	POLR2A	chr11:67139835-67142244	K562	blood:	n/a	n/a
11	TAF1	chr11:67138969-67141226	A549	lung:	n/a	n/a
12	POLR2A	chr11:67138593-67142764	PANC-1	pancreas:	n/a	n/a
13	REST	chr11:67138541-67140080	A549	lung:	n/a	n/a
14	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
15	POLR2A	chr11:67138898-67140078	A549	lung:	n/a	n/a
16	POLR2A	chr11:67138915-67142701	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:67139987-67142056	K562	blood:	n/a	n/a
18	HA-E2F1	chr11:67139849-67140982	Hela-S3	cervix:	n/a	chr11:67140264-67140275 chr11:67140158-67140165 chr11:67140336-67140346 chr11:67140266-67140274 chr11:67140791-67140801 chr11:67140158-67140165 chr11:67140266-67140274 chr11:67140265-67140275 chr11:67140267-67140274 chr11:67140158-67140165
19	POLR2A	chr11:67139906-67141027	MCF-7	breast:	n/a	n/a
20	CREB1	chr11:67139769-67140555	A549	lung:	n/a	n/a
21	EGR1	chr11:67139874-67140731	K562	blood:	n/a	chr11:67140045-67140059 chr11:67140521-67140531
22	EGR1	chr11:67139949-67140151	GM12878	blood:	n/a	chr11:67140045-67140059
23	MAX	chr11:67139938-67140976	K562	blood:	n/a	n/a
24	POLR2A	chr11:67139919-67142675	Hela-S3	cervix:	n/a	n/a
25	EGR1	chr11:67139957-67140108	GM12878	blood:	n/a	chr11:67140045-67140059
26	SP1	chr11:67138783-67140235	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
27	MXI1	chr11:67136428-67142794	IMR90	lung:	n/a	n/a
28	MAX	chr11:67139387-67141420	K562	blood:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
29	POLR2A	chr11:67137865-67142671	K562	blood:	n/a	n/a
30	E2F6	chr11:67139696-67141023	K562	blood:	n/a	chr11:67140264-67140275 chr11:67140158-67140165 chr11:67140336-67140346 chr11:67140266-67140274 chr11:67140791-67140801 chr11:67140158-67140165 chr11:67140266-67140274 chr11:67140600-67140611 chr11:67140265-67140275 chr11:67140267-67140274 chr11:67140158-67140165
31	POLR2A	chr11:67139833-67141142	A549	lung:	n/a	n/a
32	MAZ	chr11:67138879-67142345	K562	blood:	n/a	chr11:67141256-67141266 chr11:67141367-67141377 chr11:67139214-67139223
33	POLR2A	chr11:67139762-67142124	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:67139932-67142307	Gliobla	brain:	n/a	n/a
35	PBX3	chr11:67138788-67140664	A549	lung:	n/a	n/a
36	REST	chr11:67139758-67140030	A549	lung:	n/a	n/a
37	ZBTB7A	chr11:67139611-67142343	K562	blood:	n/a	n/a
38	EGR1	chr11:67139863-67140365	K562	blood:	n/a	chr11:67140045-67140059
39	ZBTB7A	chr11:67138888-67140220	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr11:67135652-67140351	U87	brain:	n/a	n/a
41	POLR2A	chr11:67138770-67141183	A549	lung:	n/a	n/a
42	MAX	chr11:67137318-67145655	A549	lung:	n/a	chr11:67138167-67138177 chr11:67141256-67141266 chr11:67138019-67138029 chr11:67141367-67141377 chr11:67139214-67139223
43	JUND	chr11:67138885-67143692	A549	lung:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141990-67142001 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67142329-67142340 chr11:67141991-67142001 chr11:67140956-67140965 chr11:67142827-67142836 chr11:67141991-67142001
44	MAX	chr11:67138561-67140292	A549	lung:	n/a	chr11:67139214-67139223
45	POLR2A	chr11:67138788-67140062	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr11:67139924-67142158	ProgFib	skin:	n/a	n/a
47	POLR2A	chr11:67137182-67142767	K562	blood:	n/a	n/a
48	POLR2A	chr11:67139958-67140895	NB4	blood:	n/a	n/a
49	PBX3	chr11:67139105-67140403	A549	lung:	n/a	n/a
50	POLR2A	chr11:67139785-67140050	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67138591..67140616-chr11:67149692..67150721,9	MCF-7	breast:
2	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
3	chr11:67138235..67140028-chr11:67271265..67273106,2	MCF-7	breast:
4	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
5	chr11:66622570..66624423-chr11:67139168..67140990,2	MCF-7	breast:
6	chr11:67006828..67010582-chr11:67138867..67142453,4	MCF-7	breast:
7	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
8	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
9	chr11:66788543..66790931-chr11:67139607..67141552,2	MCF-7	breast:
10	chr11:66823034..66824892-chr11:67139520..67142366,3	MCF-7	breast:
11	chr11:66845534..66847277-chr11:67139384..67140950,2	MCF-7	breast:
12	chr11:67139479..67140053-chr11:67149261..67150255,2	K562	blood:
13	chr11:67139765..67142051-chr17:57918264..57920706,2	MCF-7	breast:
14	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
15	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
16	chr11:67006855..67009254-chr11:67139637..67141684,2	MCF-7	breast:
17	chr11:67138865..67141337-chr11:67205315..67206965,2	K562	blood:
18	chr11:62608228..62609142-chr11:67139785..67140767,2	HCT-116	colon:
19	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
20	chr11:67139501..67142119-chr16:3071898..3074181,2	MCF-7	breast:
21	chr11:67070466..67072644-chr11:67139702..67142015,2	K562	blood:
22	chr11:67088208..67091047-chr11:67138396..67140194,2	MCF-7	breast:
23	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
24	chr11:67069839..67071996-chr11:67139740..67141397,2	MCF-7	breast:
25	chr11:67138420..67140492-chr11:67271610..67274474,2	K562	blood:
26	chr11:67138426..67140382-chr11:67217472..67219205,2	K562	blood:
27	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
28	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:
29	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
30	chr11:66886882..66888512-chr11:67137835..67140678,2	MCF-7	breast:
31	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
32	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
33	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:

Variant related genes	Relation type
CLCF1	TF binding region
ENSG00000131652	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000103145	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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
16	esv3323213	chr11:67139601-67142149	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
17	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:67137600-67140200	Bivalent Enhancer	Dnd41	blood
3	chr11:67139000-67140200	Enhancers	Brain Cingulate Gyrus	brain
4	chr11:67139000-67141600	Active TSS	HSMMtube	muscle
5	chr11:67139200-67141600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:67139400-67141000	Transcr. at gene 5' and 3'	Right Atrium	heart
7	chr11:67139400-67141600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:67139400-67141800	Active TSS	Fetal Kidney	kidney
9	chr11:67139400-67142000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:67139400-67142000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:67139600-67140200	Weak transcription	Spleen	Spleen
12	chr11:67139600-67140200	Bivalent Enhancer	GM12878-XiMat	blood
13	chr11:67139600-67140400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr11:67139600-67140600	Bivalent/Poised TSS	Thymus	Thymus
15	chr11:67139600-67141400	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:67139600-67141400	Active TSS	Small Intestine	intestine
17	chr11:67139600-67141600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:67139600-67141600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:67139600-67141600	Active TSS	HSMM	muscle
20	chr11:67139600-67141600	Active TSS	Osteobl	bone
21	chr11:67139600-67141800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:67139600-67141800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67139600-67142000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:67139600-67142000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:67139600-67142000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:67139600-67142000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:67139600-67142000	Active TSS	NHDF-Ad	bronchial
28	chr11:67139600-67142400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:67139800-67140200	Active TSS	Brain Angular Gyrus	brain
30	chr11:67139800-67140600	Weak transcription	Stomach Mucosa	stomach
31	chr11:67139800-67140800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:67139800-67140800	Active TSS	Brain Hippocampus Middle	brain
33	chr11:67139800-67141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:67139800-67141000	Weak transcription	Fetal Heart	heart
35	chr11:67139800-67141200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:67139800-67141400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:67139800-67141400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:67139800-67141400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:67139800-67141400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:67139800-67141400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:67139800-67141400	Active TSS	Colon Smooth Muscle	Colon
42	chr11:67139800-67141400	Active TSS	Esophagus	oesophagus
43	chr11:67139800-67141400	Active TSS	Fetal Intestine Small	intestine
44	chr11:67139800-67141400	Active TSS	Ovary	ovary
45	chr11:67139800-67141400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr11:67139800-67141400	Active TSS	HUVEC	blood vessel
47	chr11:67139800-67141400	Active TSS	NHEK	skin
48	chr11:67139800-67141600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:67139800-67141600	Active TSS	Brain Substantia Nigra	brain
50	chr11:67139800-67141600	Active TSS	Fetal Lung	lung

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