Variant report

Variant	rs78315659
Chromosome Location	chr11:32913455-32913456
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	chr11:32912519-32914604	MCF10A-Er-Src	breast:	n/a	n/a
2	ARID3A	chr11:32913427-32913694	HepG2	liver:	n/a	chr11:32913597-32913613
3	MYC	chr11:32913345-32916042	K562	blood:	n/a	n/a
4	POLR2A	chr11:32913062-32914524	PBDE	blood:	n/a	n/a
5	POLR2A	chr11:32912839-32916202	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:32913294-32916128	GM12892	blood:	n/a	n/a
7	CHD2	chr11:32913395-32916119	Hela-S3	cervix:	n/a	chr11:32914978-32914988 chr11:32914345-32914355 chr11:32915013-32915023
8	POLR2A	chr11:32912908-32914613	GM12891	blood:	n/a	n/a
9	CUX1	chr11:32912847-32914134	K562	blood:	n/a	n/a
10	HCFC1	chr11:32912020-32914649	Hela-S3	cervix:	n/a	n/a
11	TBL1XR1	chr11:32913285-32914244	K562	blood:	n/a	n/a
12	POLR2A	chr11:32913000-32916056	K562	blood:	n/a	n/a
13	TBP	chr11:32913086-32914139	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:32913362-32914643	K562	blood:	n/a	n/a
15	POLR2A	chr11:32913313-32914667	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:32913337-32914501	U87	brain:	n/a	n/a
17	MAFK	chr11:32913453-32914180	K562	blood:	n/a	chr11:32913876-32913891
18	MTA3	chr11:32913379-32914126	GM12878	blood:	n/a	n/a
19	GATA2	chr11:32913403-32914267	SH-SY5Y	brain:	n/a	chr11:32913814-32913824
20	CHD2	chr11:32913201-32914415	K562	blood:	n/a	chr11:32914345-32914355
21	POLR2A	chr11:32913303-32914390	SK-N-MC	brain:	n/a	n/a
22	REST	chr11:32913308-32917758	H1-neurons	neurons:	n/a	chr11:32914105-32914114 chr11:32914343-32914356 chr11:32914768-32914778
23	POLR2A	chr11:32913425-32916146	Hela-S3	cervix:	n/a	n/a
24	FOXM1	chr11:32913252-32913808	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:32913311-32914717	PFSK-1	brain:	n/a	n/a
26	TBP	chr11:32912846-32914563	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr11:32912681-32914284	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:32913433-32914347	GM12878	blood:	n/a	n/a
29	RCOR1	chr11:32913311-32914576	K562	blood:	n/a	n/a
30	POLR2A	chr11:32913340-32914597	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:32913426-32916093	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:32912621-32916106	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:32912680-32916321	GM12878	blood:	n/a	n/a
34	MXI1	chr11:32913385-32914563	K562	blood:	n/a	n/a
35	RELA	chr11:32913268-32914540	GM19099	blood:	n/a	n/a
36	POLR2A	chr11:32913341-32913615	K562	blood:	n/a	n/a
37	POLR2A	chr11:32913375-32914542	HCT-116	colon:	n/a	n/a
38	POLR2A	chr11:32912864-32914574	MCF10A-Er-Src	breast:	n/a	n/a
39	IRF1	chr11:32913274-32914397	K562	blood:	n/a	chr11:32914313-32914327 chr11:32913706-32913720 chr11:32914035-32914044 chr11:32913926-32913935
40	POLR2A	chr11:32913426-32916092	K562	blood:	n/a	n/a
41	TBP	chr11:32913449-32913698	HepG2	liver:	n/a	n/a
42	TRIM28	chr11:32913387-32914299	K562	blood:	n/a	n/a
43	GATA1	chr11:32913015-32914468	PBDE	blood:	n/a	chr11:32913814-32913824
44	POLR2A	chr11:32913291-32914589	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:32913351-32916054	GM19099	blood:	n/a	n/a
46	RUNX3	chr11:32913238-32914691	GM12878	blood:	n/a	chr11:32914141-32914156
47	ELK1	chr11:32913376-32914159	Hela-S3	cervix:	n/a	n/a
48	TBP	chr11:32913356-32916135	K562	blood:	n/a	n/a
49	NR2F2	chr11:32913209-32914343	K562	blood:	n/a	n/a
50	POLR2A	chr11:32913337-32914396	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:32912742..32915744-chr11:33035300..33038153,5	K562	blood:
2	chr11:32900766..32903313-chr11:32912451..32914688,2	K562	blood:
3	chr11:32912008..32915658-chr11:33059663..33062231,5	K562	blood:
4	chr11:32911083..32916400-chr11:33180278..33184105,5	K562	blood:
5	chr11:32912444..32914191-chr11:32997049..32998828,2	K562	blood:
6	chr11:32912801..32916780-chr11:33060030..33062962,4	MCF-7	breast:
7	chr11:32913171..32916144-chr11:33182605..33184521,3	K562	blood:
8	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
9	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
10	chr11:32912949..32915416-chr11:33278689..33280447,2	MCF-7	breast:
11	chr11:32912677..32916677-chr11:32946348..32949783,4	K562	blood:

Variant related genes	Relation type
QSER1	TF binding region
ENSG00000135378	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000110422	Chromatin interaction
ENSG00000121690	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000176148	Chromatin interaction
ENSG00000176102	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	esv3442158	chr11:32913401-32916249	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32910200-32913800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:32912200-32916400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:32912600-32917000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:32912600-32917000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:32912800-32913600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr11:32912800-32913600	Enhancers	Small Intestine	intestine
7	chr11:32912800-32913600	Flanking Active TSS	K562	blood
8	chr11:32912800-32913800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr11:32912800-32913800	Flanking Active TSS	Fetal Lung	lung
10	chr11:32912800-32913800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr11:32912800-32914000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:32912800-32914200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:32912800-32916200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:32912800-32916600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:32912800-32917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:32912800-32917200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:32913000-32913600	Enhancers	Primary B cells from cord blood	blood
18	chr11:32913000-32913600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:32913000-32913600	Enhancers	Colonic Mucosa	Colon
20	chr11:32913000-32913600	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr11:32913000-32913600	Enhancers	Fetal Thymus	thymus
22	chr11:32913000-32913600	Enhancers	Stomach Mucosa	stomach
23	chr11:32913000-32913600	Flanking Active TSS	A549	lung
24	chr11:32913000-32913600	Flanking Active TSS	Hela-S3	cervix
25	chr11:32913000-32913600	Flanking Active TSS	HMEC	breast
26	chr11:32913000-32913800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:32913000-32913800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:32913000-32913800	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:32913000-32913800	Flanking Active TSS	NHEK	skin
30	chr11:32913000-32914200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:32913000-32916200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:32913000-32916200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:32913000-32916200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:32913000-32916400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:32913000-32916800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:32913000-32916800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:32913000-32917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:32913000-32917200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:32913200-32913600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:32913200-32913600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:32913200-32913600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:32913200-32913600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:32913200-32913600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:32913200-32913600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr11:32913200-32913600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:32913200-32913600	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:32913200-32913600	Flanking Active TSS	HepG2	liver
48	chr11:32913200-32913800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:32913200-32914000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:32913200-32914000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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