Variant report

Variant	rs375631477
Chromosome Location	chr11:65685692-65685693
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	POLR2A	chr11:65682505-65685837	HCT-116	colon:	n/a	n/a
2	EGR1	chr11:65685178-65687788	HCT-116	colon:	n/a	chr11:65687121-65687136 chr11:65687354-65687367 chr11:65687123-65687133 chr11:65686611-65686625 chr11:65686295-65686305 chr11:65686845-65686860 chr11:65686846-65686859 chr11:65687595-65687608 chr11:65686717-65686730 chr11:65687155-65687165 chr11:65686846-65686859 chr11:65686846-65686860 chr11:65686846-65686859 chr11:65686849-65686859 chr11:65687122-65687135 chr11:65687712-65687722 chr11:65687157-65687170 chr11:65687297-65687311 chr11:65686849-65686858 chr11:65686846-65686859 chr11:65687120-65687130
3	POLR2A	chr11:65685347-65685889	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:65685686-65686639	PFSK-1	brain:	n/a	n/a
5	SP1	chr11:65685425-65687551	HCT-116	colon:	n/a	chr11:65686722-65686731 chr11:65687156-65687165 chr11:65687155-65687164 chr11:65686352-65686366 chr11:65687120-65687130 chr11:65687119-65687131 chr11:65687351-65687361 chr11:65687120-65687129 chr11:65686850-65686862 chr11:65687154-65687166 chr11:65687120-65687129 chr11:65686782-65686793 chr11:65686850-65686862 chr11:65687120-65687134 chr11:65687355-65687369 chr11:65686550-65686562 chr11:65687155-65687169 chr11:65687121-65687130 chr11:65687155-65687165 chr11:65687154-65687166 chr11:65686851-65686860 chr11:65686850-65686861 chr11:65687119-65687131 chr11:65687120-65687130 chr11:65686852-65686861
6	POLR2A	chr11:65684967-65685757	ProgFib	skin:	n/a	n/a
7	MAZ	chr11:65684129-65687972	IMR90	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 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
8	POLR2A	chr11:65684765-65685838	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:65685126-65685751	K562	blood:	n/a	n/a
10	ESRRA	chr11:65685419-65687131	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65685652-65685708	Hela-S3	cervix:	n/a	n/a
12	HCFC1	chr11:65685563-65688075	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
14	CHD1	chr11:65684362-65687144	IMR90	lung:	n/a	chr11:65687119-65687129
15	POLR2A	chr11:65682124-65685845	K562	blood:	n/a	n/a
16	WRNIP1	chr11:65685653-65685961	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:65685345-65687161	HUVEC	blood vessel:	n/a	n/a
18	SIN3AK20	chr11:65685537-65686037	A549	lung:	n/a	n/a
19	MXI1	chr11:65685333-65688811	IMR90	lung:	n/a	n/a
20	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
21	RCOR1	chr11:65685260-65688557	IMR90	lung:	n/a	n/a
22	RCOR1	chr11:65685662-65686426	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:65682380-65686585	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:65684917-65686612	HUVEC	blood vessel:	n/a	n/a
26	MAX	chr11:65685657-65687632	K562	blood:	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
27	POLR2A	chr11:65682054-65686599	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:65682270-65687707	K562	blood:	n/a	n/a
29	POLR2A	chr11:65682661-65686627	HCT-116	colon:	n/a	n/a
30	POLR2A	chr11:65681773-65687130	U87	brain:	n/a	n/a
31	POLR2A	chr11:65684807-65686640	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:65685679-65686078	SK-N-SH	brain:	n/a	n/a
33	RCOR1	chr11:65685636-65686046	K562	blood:	n/a	n/a
34	POLR2A	chr11:65677999-65686383	U87	brain:	n/a	n/a
35	MXI1	chr11:65685306-65688346	SK-N-SH	brain:	n/a	n/a
36	JUN	chr11:65685475-65687318	K562	blood:	n/a	chr11:65686725-65686734 chr11:65686894-65686903
37	POLR2A	chr11:65678005-65686377	U87	brain:	n/a	n/a
38	POLR2A	chr11:65682095-65686648	GM12892	blood:	n/a	n/a
39	FOSL1	chr11:65685391-65687291	HCT-116	colon:	n/a	chr11:65686725-65686734 chr11:65686894-65686903
40	MAX	chr11:65684605-65687730	HCT-116	colon:	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
41	POLR2A	chr11:65682320-65687300	HUVEC	blood vessel:	n/a	n/a
42	REST	chr11:65685644-65687882	H1-neurons	neurons:	n/a	chr11:65687695-65687705
43	POLR2A	chr11:65682548-65686605	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr11:65685545-65687916	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:65685608-65685803	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr11:65684834-65685839	GM12878	blood:	n/a	n/a
47	SIX5	chr11:65685650-65686348	A549	lung:	n/a	chr11:65686025-65686034
48	MTA3	chr11:65685291-65686427	GM12878	blood:	n/a	n/a
49	RCOR1	chr11:65685667-65685994	K562	blood:	n/a	n/a
50	POLR2A	chr11:65685032-65685814	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
2	chr11:65650935..65653549-chr11:65685284..65687414,2	MCF-7	breast:
3	chr11:65342886..65345023-chr11:65685103..65687892,2	MCF-7	breast:
4	chr11:65684297..65686517-chr11:66083132..66085712,2	MCF-7	breast:
5	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
6	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
7	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
8	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
9	chr11:64509755..64511903-chr11:65684738..65686627,2	K562	blood:
10	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
11	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
12	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
13	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
14	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
ENSG00000175467	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000255038	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:65682600-65686000	Flanking Active TSS	Hela-S3	cervix
3	chr11:65682600-65686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:65682800-65686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:65682800-65686200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr11:65683400-65686000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:65683400-65686000	Flanking Active TSS	HUVEC	blood vessel
8	chr11:65683600-65685800	Transcr. at gene 5' and 3'	NHLF	lung
9	chr11:65683800-65685800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
10	chr11:65683800-65686000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65683800-65686200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:65684000-65685800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:65684200-65686000	Transcr. at gene 5' and 3'	NHEK	skin
14	chr11:65684400-65685800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:65684400-65686000	Flanking Active TSS	HSMMtube	muscle
18	chr11:65684400-65686200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:65684400-65686400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr11:65684600-65686000	Flanking Active TSS	Colonic Mucosa	Colon
21	chr11:65684600-65686000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:65684600-65686000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:65684600-65686000	Flanking Active TSS	GM12878-XiMat	blood
24	chr11:65684600-65686200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:65684600-65686200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr11:65684600-65686200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:65684600-65686200	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr11:65684600-65686200	Flanking Active TSS	HMEC	breast
29	chr11:65684800-65685800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr11:65684800-65685800	Flanking Active TSS	Esophagus	oesophagus
31	chr11:65684800-65685800	Flanking Active TSS	Fetal Brain Female	brain
32	chr11:65684800-65685800	Flanking Active TSS	Right Ventricle	heart
33	chr11:65684800-65686000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:65684800-65686000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr11:65684800-65686000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:65684800-65686000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:65685000-65685800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr11:65685000-65685800	Flanking Active TSS	Lung	lung
39	chr11:65685000-65686000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:65685000-65686000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:65685000-65686000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:65685000-65686000	Flanking Active TSS	Pancreas	Pancrea
43	chr11:65685000-65686200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:65685200-65685800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:65685200-65685800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr11:65685200-65685800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:65685200-65685800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr11:65685200-65685800	Flanking Active TSS	Fetal Lung	lung
49	chr11:65685200-65685800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
50	chr11:65685200-65685800	Flanking Active TSS	Left Ventricle	heart

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