Variant report

Variant	rs368472384
Chromosome Location	chr11:65688045-65688046
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	HCFC1	chr11:65685563-65688075	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
3	ELF1	chr11:65685845-65688085	GM12878	blood:	n/a	chr11:65686336-65686348 chr11:65686030-65686042 chr11:65686555-65686567 chr11:65686562-65686574 chr11:65686932-65686941
4	MXI1	chr11:65685333-65688811	IMR90	lung:	n/a	n/a
5	MAX	chr11:65684998-65688252	A549	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
6	RCOR1	chr11:65685260-65688557	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:65687850-65688238	PFSK-1	brain:	n/a	n/a
9	ZNF263	chr11:65687579-65688223	HEK293-T-REx	kidney:	n/a	n/a
10	GABPA	chr11:65687869-65688318	SK-N-SH	brain:	n/a	n/a
11	SIN3AK20	chr11:65685794-65688201	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:65686406-65688364	U87	brain:	n/a	n/a
13	MXI1	chr11:65685306-65688346	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65686637..65688948-chr11:65818033..65819758,2	MCF-7	breast:
2	chr11:65686028..65688370-chr14:24657521..24659456,2	MCF-7	breast:
3	chr11:65430177..65431911-chr11:65686267..65688055,2	K562	blood:
4	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
5	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
6	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
7	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
8	chr11:65556129..65558020-chr11:65687401..65689807,2	MCF-7	breast:
9	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
10	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
11	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
C11orf68	TF binding region
ENSG00000175513	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3325633	chr11:65685401-65688349	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
12	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:65685400-65688400	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:65685600-65688200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:65685600-65688200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:65685800-65688200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:65685800-65688200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:65686000-65688200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:65686000-65688200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:65686800-65688200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:65686800-65688600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr11:65687000-65688200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:65687200-65688200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:65687200-65688200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr11:65687200-65688400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:65687200-65688400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:65687200-65688600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:65687200-65689000	Enhancers	Fetal Brain Male	brain
17	chr11:65687400-65688200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:65687400-65688200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr11:65687400-65688200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr11:65687400-65688200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:65687400-65688200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:65687400-65688200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:65687400-65688200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:65687400-65688200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:65687400-65688200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:65687400-65688200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr11:65687400-65688200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:65687400-65688400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr11:65687400-65688400	Flanking Active TSS	Liver	Liver
30	chr11:65687400-65688400	Flanking Active TSS	Pancreas	Pancrea
31	chr11:65687400-65688400	Flanking Active TSS	HUVEC	blood vessel
32	chr11:65687400-65688600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr11:65687400-65688600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:65687400-65688600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:65687400-65688600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr11:65687400-65688800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:65687600-65688200	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:65687600-65688200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr11:65687600-65688200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:65687600-65688200	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr11:65687600-65688200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr11:65687600-65688200	Flanking Active TSS	Fetal Lung	lung
43	chr11:65687600-65688200	Flanking Active TSS	Ovary	ovary
44	chr11:65687600-65688200	Flanking Active TSS	Psoas Muscle	Psoas
45	chr11:65687600-65688200	Flanking Active TSS	A549	lung
46	chr11:65687600-65688200	Flanking Active TSS	HMEC	breast
47	chr11:65687600-65688200	Flanking Active TSS	K562	blood
48	chr11:65687600-65688400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:65687600-65688400	Flanking Active TSS	Esophagus	oesophagus
50	chr11:65687600-65688400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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