Variant report

Variant	rs548983168
Chromosome Location	chr11:65430196-65430197
allele	A/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	YY1	chr11:65430062-65431011	K562	blood:	n/a	chr11:65430141-65430155 chr11:65430248-65430262 chr11:65430141-65430152 chr11:65430742-65430756 chr11:65430389-65430403
2	MAX	chr11:65430158-65430754	H1-hESC	embryonic stem cell:	n/a	n/a
3	PML	chr11:65429838-65431778	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65430009-65431444	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:65430164-65431525	U87	brain:	n/a	n/a
6	POLR2A	chr11:65430160-65431538	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:65430180-65431106	K562	blood:	n/a	n/a
8	CREB1	chr11:65429833-65431005	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65428366-65431647	GM12878	blood:	n/a	n/a
10	MAX	chr11:65430021-65431256	ECC-1	luminal epithelium:	n/a	chr11:65431210-65431220
11	ELF1	chr11:65430099-65430600	HepG2	liver:	n/a	chr11:65430519-65430528 chr11:65430235-65430247 chr11:65430375-65430388 chr11:65430337-65430349
12	ELF1	chr11:65430050-65430642	MCF-7	breast:	n/a	chr11:65430600-65430612 chr11:65430519-65430528 chr11:65430235-65430247 chr11:65430375-65430388 chr11:65430337-65430349
13	MAZ	chr11:65429997-65431411	Hela-S3	cervix:	n/a	chr11:65431210-65431220 chr11:65431262-65431271
14	POLR2A	chr11:65430031-65431205	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr11:65430085-65430402	PFSK-1	brain:	n/a	n/a
16	MAX	chr11:65430150-65431210	A549	lung:	n/a	n/a
17	TCF12	chr11:65430195-65431360	ECC-1	luminal epithelium:	n/a	chr11:65431153-65431160
18	YY1	chr11:65429990-65431092	GM12878	blood:	n/a	chr11:65430141-65430155 chr11:65430248-65430262 chr11:65430141-65430152 chr11:65430742-65430756 chr11:65430389-65430403
19	POLR2A	chr11:65430067-65431659	GM12878	blood:	n/a	n/a
20	ZBTB7A	chr11:65430119-65430492	HepG2	liver:	n/a	chr11:65430211-65430218
21	HCFC1	chr11:65428690-65431781	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr11:65429862-65431256	GM12878	blood:	n/a	n/a
23	CTCF	chr11:65430128-65430227	GM19238	blood:	n/a	chr11:65430204-65430217
24	MXI1	chr11:65430164-65431708	GM12878	blood:	n/a	n/a
25	PML	chr11:65430177-65430581	K562	blood:	n/a	n/a
26	ZBTB7A	chr11:65430063-65430868	K562	blood:	n/a	chr11:65430660-65430668 chr11:65430211-65430218
27	ZBTB7A	chr11:65430175-65430389	HepG2	liver:	n/a	chr11:65430211-65430218
28	JUND	chr11:65430060-65431145	A549	lung:	n/a	chr11:65430747-65430756 chr11:65430743-65430752 chr11:65430150-65430159 chr11:65430086-65430098 chr11:65430691-65430700
29	POLR2A	chr11:65430115-65431562	GM12891	blood:	n/a	n/a
30	MYC	chr11:65430068-65431054	NB4	blood:	n/a	n/a
31	BCLAF1	chr11:65430171-65431183	GM12878	blood:	n/a	chr11:65430338-65430351 chr11:65430246-65430255 chr11:65430266-65430279 chr11:65430248-65430261 chr11:65430391-65430404
32	POLR2A	chr11:65430164-65431510	U87	brain:	n/a	n/a
33	POLR2A	chr11:65430153-65431366	GM19193	blood:	n/a	n/a
34	MYC	chr11:65430059-65430763	MCF-7	breast:	n/a	n/a
35	TAF1	chr11:65430135-65431238	K562	blood:	n/a	n/a
36	TAF1	chr11:65430116-65430632	HepG2	liver:	n/a	n/a
37	TEAD4	chr11:65430186-65431002	K562	blood:	n/a	n/a
38	TAF1	chr11:65430165-65431194	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:65430078-65431510	GM12891	blood:	n/a	n/a
40	SIN3A	chr11:65429909-65431357	H1-hESC	embryonic stem cell:	n/a	chr11:65430508-65430521 chr11:65430185-65430198 chr11:65430900-65430911 chr11:65430517-65430530 chr11:65431005-65431018
41	POLR2A	chr11:65430088-65431474	K562	blood:	n/a	n/a
42	POLR2A	chr11:65429988-65431426	H1-neurons	neurons:	n/a	n/a
43	CTCF	chr11:65430133-65430509	H1-hESC	embryonic stem cell:	n/a	chr11:65430204-65430217
44	POLR2A	chr11:65430166-65430637	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:65429366-65431700	K562	blood:	n/a	n/a
46	POLR2A	chr11:65430107-65431103	K562	blood:	n/a	n/a
47	MAX	chr11:65429928-65431636	A549	lung:	n/a	chr11:65431210-65431220 chr11:65431262-65431271
48	GABPA	chr11:65430039-65430694	K562	blood:	n/a	chr11:65430140-65430149
49	TAF7	chr11:65430125-65430423	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:65428919-65431637	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65412642..65414860-chr11:65428206..65431618,3	MCF-7	breast:
2	chr11:65430178..65431092-chr6:30584579..30585137,2	Hela-S3	cervix:
3	chr11:65430069..65430761-chr11:65479334..65479865,2	K562	blood:
4	chr11:65307679..65310014-chr11:65429997..65432824,2	MCF-7	breast:
5	chr11:65430147..65430830-chr11:65655472..65656031,2	MCF-7	breast:
6	chr11:65380932..65386957-chr11:65428679..65431812,7	MCF-7	breast:
7	chr11:65400163..65404871-chr11:65428865..65432129,6	MCF-7	breast:
8	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
9	chr1:6845513..6846250-chr11:65430043..65430829,2	NB4	blood:
10	chr11:65428959..65430837-chr11:65624739..65627866,4	K562	blood:
11	chr11:65339484..65343401-chr11:65428921..65432383,5	MCF-7	breast:
12	chr1:45240784..45241311-chr11:65429952..65430903,2	Hela-S3	cervix:
13	chr11:65429797..65430769-chr2:88315649..88316299,2	Hela-S3	cervix:
14	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
15	chr11:65429991..65432005-chr11:65562169..65564755,2	K562	blood:
16	chr11:65430177..65431911-chr11:65686267..65688055,2	K562	blood:
17	chr11:65423887..65432217-chr11:65622069..65628988,12	K562	blood:
18	chr11:65429654..65431219-chr11:65656697..65658398,2	MCF-7	breast:
19	chr11:65429766..65432533-chr11:65462094..65464981,2	MCF-7	breast:
20	chr11:65429376..65431458-chr8:146016410..146018952,2	MCF-7	breast:
21	chr11:65430139..65430926-chr19:571816..572463,2	Hela-S3	cervix:
22	chr11:65188743..65190282-chr11:65428876..65431588,2	MCF-7	breast:
23	chr11:65428776..65430910-chr11:65484370..65486909,4	MCF-7	breast:
24	chr11:65429132..65432605-chr11:65622916..65626202,6	MCF-7	breast:
25	chr11:65428985..65431213-chr11:65655731..65657899,2	K562	blood:
26	chr11:65429132..65431872-chr11:65817636..65822281,4	MCF-7	breast:
27	chr11:65429800..65432139-chr11:65653071..65655699,2	MCF-7	breast:
28	chr11:65265117..65266625-chr11:65429410..65431565,2	K562	blood:
29	chr11:65430022..65431720-chr11:65728429..65730460,2	MCF-7	breast:
30	chr11:65428607..65430796-chr11:65768393..65771088,2	K562	blood:
31	chr11:65336349..65338989-chr11:65428353..65432348,4	MCF-7	breast:
32	chr11:65381571..65386287-chr11:65427993..65433260,8	MCF-7	breast:
33	chr11:65428923..65432488-chr11:65624731..65627563,6	MCF-7	breast:
34	chr11:65428865..65431305-chr11:65626478..65629718,3	MCF-7	breast:
35	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:

Variant related genes	Relation type
RELA	TF binding region
ENSG00000161016	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000267751	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000239356	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000171735	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000175334	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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
17	esv3415004	chr11:65429526-65431424	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65428800-65430200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr11:65428800-65430200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr11:65429000-65431400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:65429000-65431600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:65429200-65430200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:65429200-65430200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:65429200-65430200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:65429200-65430200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65429200-65430200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:65429200-65431400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:65429200-65431600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:65429200-65431800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:65429400-65431000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:65429400-65431000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:65429400-65431400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:65429400-65431400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:65429400-65431600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:65429400-65431600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:65429400-65431600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:65429400-65431600	Active TSS	Small Intestine	intestine
21	chr11:65429600-65430200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:65429600-65430200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:65429600-65430200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
24	chr11:65429600-65430800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:65429600-65431000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:65429600-65431000	Active TSS	Stomach Mucosa	stomach
27	chr11:65429600-65431000	Active TSS	Osteobl	bone
28	chr11:65429600-65431200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:65429600-65431200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:65429600-65431200	Active TSS	Fetal Intestine Small	intestine
31	chr11:65429600-65431200	Active TSS	A549	lung
32	chr11:65429600-65431200	Bivalent/Poised TSS	HepG2	liver
33	chr11:65429600-65431400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:65429600-65431400	Active TSS	Gastric	stomach
35	chr11:65429600-65431400	Active TSS	NHEK	skin
36	chr11:65429600-65431600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:65429600-65431600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:65429600-65431600	Active TSS	Aorta	Aorta
39	chr11:65429600-65431600	Active TSS	Brain Angular Gyrus	brain
40	chr11:65429600-65431600	Active TSS	Fetal Kidney	kidney
41	chr11:65429600-65431600	Active TSS	Ovary	ovary
42	chr11:65429600-65431600	Active TSS	Psoas Muscle	Psoas
43	chr11:65429600-65431600	Active TSS	HSMM	muscle
44	chr11:65429600-65431600	Active TSS	HSMMtube	muscle
45	chr11:65429600-65431800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr11:65429600-65431800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:65429600-65432000	Active TSS	GM12878-XiMat	blood
48	chr11:65429800-65430200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:65429800-65430800	Active TSS	NH-A	brain
50	chr11:65429800-65431000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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