Variant report

Variant	rs374648495
Chromosome Location	chr11:3863205-3863206
allele	G/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	MXI1	chr11:3861164-3863791	SK-N-SH	brain:	n/a	n/a
2	USF2	chr11:3862869-3863245	Hela-S3	cervix:	n/a	n/a
3	ATF2	chr11:3862451-3863240	GM12878	blood:	n/a	n/a
4	WRNIP1	chr11:3862888-3863218	GM12878	blood:	n/a	n/a
5	EP300	chr11:3862339-3863219	K562	blood:	n/a	n/a
6	CTCF	chr11:3862730-3863226	MCF-7	breast:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
7	MAX	chr11:3862290-3863241	K562	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487
8	RCOR1	chr11:3862473-3863386	GM12878	blood:	n/a	n/a
9	MAX	chr11:3860293-3863282	NB4	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
10	POLR2A	chr11:3860236-3863236	GM19099	blood:	n/a	n/a
11	NFIC	chr11:3862359-3863251	GM12878	blood:	n/a	n/a
12	MXI1	chr11:3861211-3863386	IMR90	lung:	n/a	n/a
13	RFX5	chr11:3862615-3863276	Hela-S3	cervix:	n/a	n/a
14	USF1	chr11:3862873-3863212	A549	lung:	n/a	n/a
15	FOXM1	chr11:3862427-3863241	GM12878	blood:	n/a	n/a
16	USF1	chr11:3862875-3863291	ECC-1	luminal epithelium:	n/a	n/a
17	RCOR1	chr11:3862457-3863240	K562	blood:	n/a	n/a
18	MAX	chr11:3862567-3863314	H1-hESC	embryonic stem cell:	n/a	chr11:3862809-3862819
19	STAT5A	chr11:3862533-3863221	GM12878	blood:	n/a	n/a
20	MYC	chr11:3862331-3863288	MCF10A-Er-Src	breast:	n/a	chr11:3862809-3862819 chr11:3862477-3862487
21	POLR2A	chr11:3860418-3863213	K562	blood:	n/a	n/a
22	MAX	chr11:3862789-3863241	HepG2	liver:	n/a	chr11:3862809-3862819
23	CTCF	chr11:3862700-3863264	MCF-7	breast:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
24	MAX	chr11:3862657-3863403	MCF-7	breast:	n/a	chr11:3862809-3862819
25	CUX1	chr11:3862425-3863409	GM12878	blood:	n/a	n/a
26	TCF12	chr11:3861793-3863307	A549	lung:	n/a	chr11:3862143-3862153 chr11:3862123-3862133
27	MYBL2	chr11:3862700-3863271	HepG2	liver:	n/a	n/a
28	E2F6	chr11:3862638-3863292	H1-hESC	embryonic stem cell:	n/a	chr11:3862811-3862820 chr11:3862868-3862880
29	USF1	chr11:3862856-3863229	A549	lung:	n/a	n/a
30	STAT5A	chr11:3862444-3863254	GM12878	blood:	n/a	chr11:3862472-3862484
31	MAX	chr11:3862579-3863314	H1-hESC	embryonic stem cell:	n/a	chr11:3862809-3862819
32	MAX	chr11:3862609-3863422	A549	lung:	n/a	chr11:3862809-3862819
33	POLR2A	chr11:3857975-3863299	HL-60	blood:	n/a	n/a
34	MYC	chr11:3861917-3863232	Hela-S3	cervix:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
35	RAD21	chr11:3862770-3863206	ECC-1	luminal epithelium:	n/a	chr11:3862958-3862970 chr11:3862959-3862972 chr11:3862956-3862975 chr11:3862962-3862971
36	MXI1	chr11:3862822-3863314	K562	blood:	n/a	n/a
37	MYC	chr11:3862090-3863415	K562	blood:	n/a	chr11:3862809-3862819 chr11:3862304-3862314 chr11:3862477-3862487
38	MAX	chr11:3862403-3863353	ECC-1	luminal epithelium:	n/a	chr11:3862809-3862819 chr11:3862477-3862487
39	USF1	chr11:3862843-3863251	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr11:3862606-3863274	K562	blood:	n/a	chr11:3862809-3862819
41	E2F6	chr11:3862510-3863399	H1-hESC	embryonic stem cell:	n/a	chr11:3862512-3862519 chr11:3862811-3862820 chr11:3862868-3862880
42	MYC	chr11:3862271-3863213	K562	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487
43	POLR2A	chr11:3860378-3863540	Raji	blood:	n/a	n/a
44	POLR2A	chr11:3861792-3863228	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr11:3862535-3863447	ECC-1	luminal epithelium:	n/a	chr11:3862809-3862819
46	CTCF	chr11:3862801-3863206	A549	lung:	n/a	chr11:3862959-3862975 chr11:3862854-3862864 chr11:3862960-3862973 chr11:3862961-3862971 chr11:3862958-3862976
47	TRIM28	chr11:3862512-3863342	K562	blood:	n/a	n/a
48	MAX	chr11:3862727-3863230	GM12878	blood:	n/a	chr11:3862809-3862819
49	MAX	chr11:3861840-3863272	Hela-S3	cervix:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026
50	MYC	chr11:3861980-3863382	K562	blood:	n/a	chr11:3862304-3862314 chr11:3862809-3862819 chr11:3862477-3862487 chr11:3862016-3862026

No.	Distal block	Cell Line	Cell type
1	chr11:3862483..3865232-chr11:3890007..3892959,2	K562	blood:
2	chr11:3861720..3863854-chr11:3876323..3877978,2	MCF-7	breast:
3	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
4	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
5	chr11:3817048..3820526-chr11:3859691..3864703,8	K562	blood:
6	chr11:3862990..3867083-chr11:3867871..3871459,5	K562	blood:
7	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
8	chr11:3862693..3864773-chr11:4060192..4062998,2	MCF-7	breast:
9	chr11:3862793..3864567-chr11:4100746..4102871,2	K562	blood:
10	chr11:3861261..3864016-chr11:3874431..3876289,3	MCF-7	breast:
11	chr11:3842483..3845464-chr11:3861552..3863945,2	MCF-7	breast:
12	chr11:3845241..3847374-chr11:3862493..3863741,9	K562	blood:
13	chr11:3845748..3846401-chr11:3862699..3863275,2	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	chr11:3862506..3865244-chr11:4006779..4008318,2	K562	blood:
17	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:
18	chr11:3829046..3832201-chr11:3860687..3864518,3	MCF-7	breast:
19	chr11:3861564..3863892-chr11:4106134..4108924,2	MCF-7	breast:

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000177105	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000229368	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3861600-3863400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr11:3861600-3863400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:3861600-3863400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:3861800-3863400	Active TSS	Fetal Brain Female	brain
5	chr11:3862400-3863400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:3862800-3863400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:3862800-3863400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr11:3862800-3863400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:3862800-3863400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:3862800-3863400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:3862800-3863400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:3862800-3863600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:3862800-3863600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:3862800-3863600	Flanking Active TSS	Dnd41	blood
15	chr11:3863000-3863400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:3863000-3863400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:3863000-3863400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:3863000-3863400	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr11:3863000-3863400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:3863000-3863400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr11:3863000-3863400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr11:3863000-3863400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:3863000-3863400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr11:3863000-3863400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:3863000-3863400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr11:3863000-3863400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:3863000-3863400	Enhancers	Stomach Mucosa	stomach
28	chr11:3863000-3863400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr11:3863000-3863400	Flanking Active TSS	A549	lung
30	chr11:3863000-3863400	Flanking Active TSS	HepG2	liver
31	chr11:3863000-3863400	Flanking Active TSS	HSMM	muscle
32	chr11:3863000-3863400	Flanking Active TSS	NH-A	brain
33	chr11:3863000-3863400	Flanking Active TSS	NHLF	lung
34	chr11:3863000-3863400	Flanking Active TSS	Osteobl	bone
35	chr11:3863000-3863600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:3863000-3863600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:3863000-3863600	Enhancers	Placenta	Placenta
38	chr11:3863000-3863600	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:3863000-3863600	Flanking Active TSS	Hela-S3	cervix
40	chr11:3863000-3863600	Flanking Active TSS	K562	blood
41	chr11:3863000-3874600	Weak transcription	Psoas Muscle	Psoas
42	chr11:3863000-3875400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:3863200-3863400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr11:3863200-3863400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr11:3863200-3863400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr11:3863200-3863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:3863200-3863400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:3863200-3863400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:3863200-3863400	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:3863200-3863400	Enhancers	Colon Smooth Muscle	Colon

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