Variant report

Variant	rs12806008
Chromosome Location	chr11:45943744-45943745
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	EP300	chr11:45943449-45944375	H1-hESC	embryonic stem cell:	n/a	chr11:45944326-45944342 chr11:45944234-45944250 chr11:45943936-45943952
2	TCF12	chr11:45943552-45944305	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr11:45943704-45943870	PANC-1	pancreas:	n/a	n/a
4	SP1	chr11:45942999-45944417	H1-hESC	embryonic stem cell:	n/a	chr11:45944188-45944197 chr11:45943904-45943918 chr11:45944137-45944151 chr11:45944108-45944118 chr11:45944137-45944146 chr11:45943786-45943798 chr11:45944109-45944118 chr11:45944107-45944119 chr11:45944136-45944148 chr11:45943786-45943798 chr11:45944189-45944198 chr11:45943905-45943914 chr11:45944109-45944118 chr11:45943841-45943855 chr11:45944187-45944199 chr11:45944108-45944117 chr11:45944107-45944119 chr11:45944137-45944147 chr11:45943903-45943915 chr11:45943903-45943915 chr11:45944137-45944146 chr11:45944138-45944147 chr11:45943904-45943913 chr11:45944187-45944199 chr11:45944104-45944118 chr11:45944136-45944148 chr11:45943787-45943796 chr11:45943844-45943858 chr11:45944108-45944118 chr11:45944328-45944341
5	EP300	chr11:45943523-45944084	HepG2	liver:	n/a	chr11:45943936-45943952
6	MAX	chr11:45943484-45945245	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
7	TAF1	chr11:45943517-45943980	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr11:45942868-45945276	H1-hESC	embryonic stem cell:	n/a	chr11:45944228-45944241 chr11:45944150-45944161 chr11:45943644-45943653 chr11:45943637-45943650
9	CHD2	chr11:45943548-45944107	H1-hESC	embryonic stem cell:	n/a	chr11:45943653-45943663
10	MAZ	chr11:45943407-45944542	HepG2	liver:	n/a	chr11:45943840-45943850
11	TEAD4	chr11:45943636-45944134	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFIC	chr11:45942901-45944220	ECC-1	luminal epithelium:	n/a	n/a
13	USF1	chr11:45943598-45944053	ECC-1	luminal epithelium:	n/a	chr11:45943644-45943660
14	POLR2A	chr11:45943703-45944001	HCT-116	colon:	n/a	n/a
15	TAF1	chr11:45943455-45943947	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:45943711-45944014	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:45943526-45943940	HCT-116	colon:	n/a	n/a
18	TCF7L2	chr11:45943690-45944028	MCF-7	breast:	n/a	n/a
19	YY1	chr11:45943436-45944743	HepG2	liver:	n/a	chr11:45944325-45944334 chr11:45943971-45943985 chr11:45943950-45943961
20	JUND	chr11:45943584-45943948	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr11:45943599-45943973	HepG2	liver:	n/a	chr11:45943840-45943850
22	POLR2A	chr11:45943684-45944470	HCT-116	colon:	n/a	n/a
23	MAX	chr11:45943703-45943917	K562	blood:	n/a	chr11:45943840-45943850
24	MYC	chr11:45943408-45944688	H1-hESC	embryonic stem cell:	n/a	chr11:45943840-45943850
25	NRF1	chr11:45943675-45943830	H1-hESC	embryonic stem cell:	n/a	n/a
26	SP4	chr11:45943554-45944375	H1-hESC	embryonic stem cell:	n/a	chr11:45944105-45944121 chr11:45944183-45944199 chr11:45944134-45944150 chr11:45943901-45943917 chr11:45944103-45944119
27	RAD21	chr11:45943714-45943812	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:45943565-45944489	HepG2	liver:	n/a	n/a
29	MAX	chr11:45942936-45944627	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
30	GATA3	chr11:45942945-45944049	T-47D	breast:	n/a	n/a
31	POLR2A	chr11:45943113-45944443	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr11:45943567-45943958	H1-hESC	embryonic stem cell:	n/a	chr11:45943840-45943850
33	HMGN3	chr11:45943644-45945084	K562	blood:	n/a	n/a
34	EGR1	chr11:45943603-45944423	ECC-1	luminal epithelium:	n/a	chr11:45944324-45944334 chr11:45943944-45943957 chr11:45944183-45944196
35	CTBP2	chr11:45942964-45944255	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZEB1	chr11:45943601-45944033	GM12878	blood:	n/a	n/a
37	MYC	chr11:45943738-45945102	K562	blood:	n/a	chr11:45943840-45943850
38	EP300	chr11:45942781-45944534	ECC-1	luminal epithelium:	n/a	chr11:45942994-45943001 chr11:45944326-45944342 chr11:45944234-45944250 chr11:45943936-45943952
39	TCF7L2	chr11:45943454-45944846	HCT-116	colon:	n/a	n/a
40	NR2F2	chr11:45943674-45944443	MCF-7	breast:	n/a	n/a
41	MXI1	chr11:45943430-45943962	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:45943635-45944452	HepG2	liver:	n/a	n/a
43	JUND	chr11:45943673-45943931	H1-hESC	embryonic stem cell:	n/a	n/a
44	GABPA	chr11:45943604-45943944	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr11:45943607-45944431	HepG2	liver:	n/a	chr11:45944292-45944307 chr11:45944416-45944431
46	MAX	chr11:45943239-45944127	H1-hESC	embryonic stem cell:	n/a	chr11:45943840-45943850
47	POLR2A	chr11:45943463-45944459	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr11:45943613-45943933	H1-hESC	embryonic stem cell:	n/a	n/a
49	FOXA1	chr11:45943616-45944018	T-47D	breast:	n/a	n/a
50	YY1	chr11:45943597-45944117	H1-hESC	embryonic stem cell:	n/a	chr11:45943971-45943985 chr11:45943950-45943961

No.	Distal block	Cell Line	Cell type
1	chr11:45867151..45870859-chr11:45942545..45946514,4	K562	blood:
2	chr11:45942684..45944705-chr11:46141351..46143147,2	K562	blood:
3	chr11:45943430..45944211-chr5:39074478..39074986,2	HCT-116	colon:
4	chr11:45879680..45881437-chr11:45942342..45944046,2	MCF-7	breast:

Variant related genes	Relation type
PEX16	TF binding region
GYLTL1B	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000164327	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3327833	chr11:45942401-45945249	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45940400-45943800	Weak transcription	Aorta	Aorta
2	chr11:45941000-45943800	Weak transcription	Right Atrium	heart
3	chr11:45941200-45944000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:45941200-45953400	Weak transcription	Dnd41	blood
5	chr11:45942600-45943800	Bivalent Enhancer	Fetal Intestine Small	intestine
6	chr11:45942600-45943800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:45942800-45943800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:45942800-45943800	Enhancers	Brain Hippocampus Middle	brain
9	chr11:45942800-45943800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:45942800-45943800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:45942800-45944000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:45942800-45944200	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr11:45943000-45943800	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr11:45943000-45943800	Bivalent Enhancer	Placenta	Placenta
15	chr11:45943200-45943800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:45943200-45943800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:45943200-45943800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:45943200-45943800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
19	chr11:45943200-45943800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:45943200-45943800	Weak transcription	A549	lung
21	chr11:45943200-45944000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:45943200-45944000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:45943200-45944000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr11:45943200-45944200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr11:45943200-45945200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:45943200-45945400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:45943200-45945800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:45943400-45943800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:45943400-45943800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:45943400-45943800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr11:45943400-45943800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:45943400-45943800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:45943400-45943800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:45943400-45943800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:45943400-45943800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:45943400-45943800	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:45943400-45943800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr11:45943400-45943800	Enhancers	HMEC	breast
39	chr11:45943400-45944000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:45943400-45944000	Enhancers	Spleen	Spleen
41	chr11:45943400-45944000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr11:45943400-45944200	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:45943400-45944400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:45943400-45944400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:45943400-45944800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:45943400-45945000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:45943400-45945000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:45943400-45945000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr11:45943400-45945000	Enhancers	Fetal Heart	heart
50	chr11:45943400-45945200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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