Variant report

Variant	rs11030021
Chromosome Location	chr11:3862075-3862076
allele	C/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	MXI1	chr11:3861164-3863791	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:3860160-3863143	K562	blood:	n/a	n/a
3	EGR1	chr11:3861895-3863100	K562	blood:	n/a	chr11:3862477-3862490 chr11:3862844-3862857 chr11:3862811-3862821 chr11:3862805-3862820 chr11:3862943-3862953 chr11:3862048-3862057 chr11:3862474-3862488 chr11:3862017-3862027 chr11:3862806-3862819 chr11:3862312-3862325 chr11:3862294-3862304 chr11:3862806-3862819 chr11:3862477-3862487 chr11:3862808-3862818
4	JUND	chr11:3861962-3863103	A549	lung:	n/a	chr11:3862182-3862191
5	YY1	chr11:3861939-3862203	GM12891	blood:	n/a	chr11:3862149-3862163 chr11:3862044-3862058 chr11:3862099-3862110 chr11:3862015-3862029 chr11:3862152-3862161 chr11:3862155-3862169 chr11:3862102-3862116
6	POLR2A	chr11:3861928-3863086	HEK293	kidney:	n/a	n/a
7	TBP	chr11:3862032-3862169	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr11:3861986-3862223	K562	blood:	n/a	chr11:3862016-3862026
9	MAZ	chr11:3860356-3863182	GM12878	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
10	POLR2A	chr11:3861619-3863157	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:3861415-3863095	GM15510	blood:	n/a	n/a
12	SIN3AK20	chr11:3861918-3862282	SK-N-SH	brain:	n/a	n/a
13	SPI1	chr11:3862065-3862230	GM12878	blood:	n/a	chr11:3862184-3862193
14	YY1	chr11:3861885-3862243	GM12878	blood:	n/a	chr11:3862149-3862163 chr11:3862044-3862058 chr11:3862099-3862110 chr11:3862015-3862029 chr11:3862152-3862161 chr11:3862155-3862169 chr11:3862102-3862116
15	MAX	chr11:3860293-3863282	NB4	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
16	POLR2A	chr11:3860236-3863236	GM19099	blood:	n/a	n/a
17	HMGN3	chr11:3861848-3862193	K562	blood:	n/a	n/a
18	YY1	chr11:3862000-3862213	HCT-116	colon:	n/a	chr11:3862149-3862163 chr11:3862044-3862058 chr11:3862099-3862110 chr11:3862015-3862029 chr11:3862152-3862161 chr11:3862155-3862169 chr11:3862102-3862116
19	STAT5A	chr11:3861793-3862284	GM12878	blood:	n/a	chr11:3862261-3862268
20	GABPA	chr11:3861769-3863058	K562	blood:	n/a	chr11:3862811-3862820 chr11:3862046-3862055 chr11:3862295-3862304
21	MXI1	chr11:3861211-3863386	IMR90	lung:	n/a	n/a
22	E2F1	chr11:3861853-3863138	Hela-S3	cervix:	n/a	chr11:3862156-3862166 chr11:3862512-3862519 chr11:3862811-3862820 chr11:3862868-3862880 chr11:3862153-3862163 chr11:3862299-3862308
23	POLR2A	chr11:3861903-3862219	HUVEC	blood vessel:	n/a	n/a
24	YY1	chr11:3861727-3862271	K562	blood:	n/a	chr11:3862149-3862163 chr11:3862044-3862058 chr11:3862099-3862110 chr11:3862015-3862029 chr11:3862152-3862161 chr11:3862155-3862169 chr11:3862102-3862116
25	POLR2A	chr11:3861609-3863110	K562	blood:	n/a	n/a
26	SIN3AK20	chr11:3861877-3862226	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:3861430-3863109	GM19193	blood:	n/a	n/a
28	POLR2A	chr11:3861378-3863162	GM12878	blood:	n/a	n/a
29	ETS1	chr11:3861989-3862205	K562	blood:	n/a	chr11:3862080-3862091 chr11:3862138-3862149 chr11:3862145-3862158 chr11:3862150-3862161
30	SIN3AK20	chr11:3861992-3862381	PFSK-1	brain:	n/a	n/a
31	ZBTB7A	chr11:3861714-3863113	K562	blood:	n/a	chr11:3862844-3862853 chr11:3862852-3862861
32	POLR2A	chr11:3860418-3863213	K562	blood:	n/a	n/a
33	TCF3	chr11:3861921-3862198	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr11:3862057-3862176	HepG2	liver:	n/a	n/a
35	ELF1	chr11:3861966-3862551	HepG2	liver:	n/a	chr11:3862158-3862167 chr11:3862017-3862029 chr11:3862135-3862147
36	ELF1	chr11:3861807-3863094	K562	blood:	n/a	chr11:3862158-3862167 chr11:3862017-3862029 chr11:3862732-3862744 chr11:3862135-3862147
37	IRF1	chr11:3861995-3862195	K562	blood:	n/a	chr11:3862183-3862192
38	ELF1	chr11:3862014-3862445	HepG2	liver:	n/a	chr11:3862158-3862167 chr11:3862017-3862029 chr11:3862135-3862147
39	SPI1	chr11:3862049-3862240	K562	blood:	n/a	chr11:3862184-3862193
40	POLR2A	chr11:3861991-3862216	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:3861843-3863074	HUVEC	blood vessel:	n/a	n/a
42	E2F4	chr11:3861803-3863057	K562	blood:	n/a	chr11:3862156-3862166 chr11:3862512-3862519 chr11:3862811-3862820 chr11:3862868-3862880 chr11:3862153-3862163 chr11:3862299-3862308
43	TCF12	chr11:3861793-3863307	A549	lung:	n/a	chr11:3862143-3862153 chr11:3862123-3862133
44	ELF1	chr11:3861989-3862534	MCF-7	breast:	n/a	chr11:3862158-3862167 chr11:3862017-3862029 chr11:3862135-3862147
45	POLR2A	chr11:3857975-3863299	HL-60	blood:	n/a	n/a
46	GABPA	chr11:3861966-3862334	HepG2	liver:	n/a	chr11:3862046-3862055 chr11:3862295-3862304
47	POLR2A	chr11:3861533-3863123	Hela-S3	cervix:	n/a	n/a
48	MYC	chr11:3861917-3863232	Hela-S3	cervix:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
49	TBP	chr11:3862017-3863177	K562	blood:	n/a	n/a
50	GABPA	chr11:3861937-3862426	MCF-7	breast:	n/a	chr11:3862046-3862055 chr11:3862295-3862304

No.	Distal block	Cell Line	Cell type
1	chr11:3861855..3862592-chr11:61583476..61584288,2	Hela-S3	cervix:
2	chr11:3862068..3862768-chr6:82957154..82957777,2	Hela-S3	cervix:
3	chr11:3861567..3862305-chr16:8962537..8963094,2	Hela-S3	cervix:
4	chr11:3861720..3863854-chr11:3876323..3877978,2	MCF-7	breast:
5	chr11:3861999..3862694-chr12:52444941..52445740,2	Hela-S3	cervix:
6	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
7	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
8	chr11:3817048..3820526-chr11:3859691..3864703,8	K562	blood:
9	chr11:3861945..3862500-chr12:52449521..52450075,2	Hela-S3	cervix:
10	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
11	chr11:3861261..3864016-chr11:3874431..3876289,3	MCF-7	breast:
12	chr11:3860690..3862593-chr11:4116069..4117581,2	MCF-7	breast:
13	chr11:3842483..3845464-chr11:3861552..3863945,2	MCF-7	breast:
14	chr11:3827764..3831807-chr11:3860648..3864124,7	K562	blood:
15	chr11:3861239..3864353-chr11:4095380..4099458,3	MCF-7	breast:
16	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:
17	chr11:3829046..3832201-chr11:3860687..3864518,3	MCF-7	breast:
18	chr11:3861564..3863892-chr11:4106134..4108924,2	MCF-7	breast:

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000005700	Chromatin interaction
ENSG00000134824	Chromatin interaction
ENSG00000229368	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000153048	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000149485	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11030043	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11030044	0.83[AMR][1000 genomes]
rs11030055	0.81[EUR][1000 genomes]
rs4910857	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61899392	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	esv3325772	chr11:3860901-3863749	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv3479108	chr11:3861476-3863424	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	esv3479119	chr11:3861476-3863424	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 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	chr11:3860400-3862800	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr11:3860400-3863000	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr11:3860400-3863000	Active TSS	Thymus	Thymus
4	chr11:3860400-3863000	Active TSS	GM12878-XiMat	blood
5	chr11:3860600-3862800	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:3860600-3863000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:3860600-3863000	Active TSS	Primary monocytes fromperipheralblood	blood
8	chr11:3860600-3863000	Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:3860600-3863000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:3860600-3863000	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:3860600-3863000	Active TSS	Left Ventricle	heart
12	chr11:3860600-3863000	Active TSS	Right Atrium	heart
13	chr11:3860600-3863000	Active TSS	HSMM	muscle
14	chr11:3860600-3863000	Active TSS	NHLF	lung
15	chr11:3860600-3863200	Active TSS	Colonic Mucosa	Colon
16	chr11:3860800-3863200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:3861000-3862800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:3861000-3863200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:3861200-3862600	Active TSS	Spleen	Spleen
20	chr11:3861200-3862800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr11:3861200-3863000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:3861200-3863000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr11:3861200-3863000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:3861200-3863000	Active TSS	Gastric	stomach
25	chr11:3861200-3863000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:3861200-3863000	Active TSS	Right Ventricle	heart
27	chr11:3861200-3863000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr11:3861200-3863000	Active TSS	HSMMtube	muscle
29	chr11:3861200-3863000	Active TSS	NHDF-Ad	bronchial
30	chr11:3861200-3863200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:3861200-3863200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:3861200-3863200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:3861400-3862400	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:3861400-3862600	Active TSS	HMEC	breast
35	chr11:3861400-3862800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:3861400-3862800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:3861400-3863000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:3861400-3863000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:3861400-3863000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:3861400-3863000	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:3861400-3863000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:3861400-3863000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:3861400-3863000	Active TSS	Aorta	Aorta
44	chr11:3861400-3863000	Active TSS	Brain Hippocampus Middle	brain
45	chr11:3861400-3863000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:3861400-3863000	Active TSS	Brain Substantia Nigra	brain
47	chr11:3861400-3863000	Active TSS	Fetal Kidney	kidney
48	chr11:3861400-3863000	Active TSS	Ovary	ovary
49	chr11:3861400-3863000	Active TSS	A549	lung
50	chr11:3861400-3863000	Active TSS	K562	blood

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