Variant report

Variant	rs147752044
Chromosome Location	chr11:17035406-17035407
allele	C/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	chr11:17034855-17035597	A549	lung:	n/a	n/a
2	TAF1	chr11:17035297-17035761	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr11:17034254-17035658	MCF-7	breast:	n/a	n/a
4	ZNF143	chr11:17035404-17035433	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF263	chr11:17034630-17035742	HEK293-T-REx	kidney:	n/a	n/a
6	MAX	chr11:17034542-17035432	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
7	ZBTB7A	chr11:17035064-17035796	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr11:17035320-17035470	SAEC	small airway:	n/a	n/a
9	SIN3A	chr11:17034401-17035824	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:17034323-17035634	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:17034751-17035725	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
13	MAX	chr11:17035220-17035877	MCF-7	breast:	n/a	chr11:17035489-17035499
14	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
15	CREB1	chr11:17034354-17035789	A549	lung:	n/a	n/a
16	TAF1	chr11:17034542-17035806	HepG2	liver:	n/a	n/a
17	HEY1	chr11:17034399-17035663	HepG2	liver:	n/a	chr11:17035459-17035474 chr11:17035506-17035521 chr11:17035404-17035419
18	POLR2A	chr11:17034447-17036458	MCF-7	breast:	n/a	n/a
19	ZBTB7A	chr11:17035064-17036084	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr11:17034314-17035710	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
21	NR3C1	chr11:17034168-17035693	A549	lung:	n/a	chr11:17035471-17035484 chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
22	MYC	chr11:17035358-17035409	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:17034554-17035781	A549	lung:	n/a	n/a
24	HA-E2F1	chr11:17034464-17035763	MCF-7	breast:	n/a	chr11:17035370-17035377
25	CEBPD	chr11:17034926-17035668	HepG2	liver:	n/a	n/a
26	CHD2	chr11:17035272-17035452	HepG2	liver:	n/a	chr11:17035441-17035451
27	MAX	chr11:17034216-17035488	A549	lung:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
28	SIN3AK20	chr11:17034093-17036016	MCF-7	breast:	n/a	n/a
29	TAF1	chr11:17035175-17035736	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:17034441-17036399	MCF-7	breast:	n/a	n/a
31	TBP	chr11:17034872-17035419	H1-hESC	embryonic stem cell:	n/a	n/a
32	HDAC2	chr11:17034328-17035458	HepG2	liver:	n/a	chr11:17035282-17035290
33	POLR2A	chr11:17034469-17036381	A549	lung:	n/a	n/a
34	POLR2A	chr11:17034527-17036242	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:17034462-17036864	A549	lung:	n/a	n/a
36	E2F4	chr11:17035333-17035598	MCF10A-Er-Src	breast:	n/a	chr11:17035370-17035377
37	MAX	chr11:17033937-17037316	A549	lung:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
38	TCF12	chr11:17034129-17035564	A549	lung:	n/a	chr11:17035338-17035345
39	POLR2A	chr11:17034371-17037065	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:17035313-17035600	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr11:17035333-17035796	MCF-7	breast:	n/a	chr11:17035489-17035499
42	CTBP2	chr11:17034437-17035493	H1-hESC	embryonic stem cell:	n/a	n/a
43	EP300	chr11:17035014-17035538	HepG2	liver:	n/a	chr11:17035516-17035525
44	MXI1	chr11:17034441-17035638	HepG2	liver:	n/a	n/a
45	YY1	chr11:17034466-17036495	HepG2	liver:	n/a	chr11:17035432-17035446 chr11:17036186-17036195 chr11:17036049-17036063 chr11:17035953-17035967 chr11:17035458-17035472 chr11:17036155-17036169 chr11:17035406-17035415 chr11:17036052-17036061 chr11:17036052-17036066
46	MAX	chr11:17035294-17035655	ECC-1	luminal epithelium:	n/a	chr11:17035489-17035499
47	POLR2A	chr11:17034494-17036573	HepG2	liver:	n/a	n/a
48	HEY1	chr11:17034480-17035787	HepG2	liver:	n/a	chr11:17035459-17035474 chr11:17035506-17035521 chr11:17035404-17035419

No.	Distal block	Cell Line	Cell type
1	chr11:16994632..16996478-chr11:17034698..17036230,2	MCF-7	breast:
2	chr11:17034631..17037564-chr11:17097951..17099758,2	MCF-7	breast:
3	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:

Variant related genes	Relation type
PLEKHA7	TF binding region
OR7E14P	TF binding region
ENSG00000251928	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000244398	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv3375438	chr11:17034401-17037549	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
6	esv3418566	chr11:17035326-17037224	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17034200-17035600	Active TSS	Stomach Mucosa	stomach
2	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
4	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
5	chr11:17034400-17035600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:17034400-17036400	Active TSS	Osteobl	bone
7	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
8	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
10	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
11	chr11:17034600-17035600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:17034600-17035600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:17034600-17035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:17034600-17035600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr11:17034600-17035600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr11:17034600-17035600	Flanking Active TSS	NH-A	brain
17	chr11:17034600-17035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:17034600-17035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:17034600-17036400	Active TSS	Liver	Liver
20	chr11:17034600-17036400	Active TSS	Colon Smooth Muscle	Colon
21	chr11:17034600-17036400	Active TSS	Gastric	stomach
22	chr11:17034600-17036400	Active TSS	Psoas Muscle	Psoas
23	chr11:17034600-17036600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:17034600-17036600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:17034600-17036600	Active TSS	Aorta	Aorta
26	chr11:17034600-17036600	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:17034600-17036600	Active TSS	HSMMtube	muscle
28	chr11:17034600-17037000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:17034600-17037000	Active TSS	Brain Hippocampus Middle	brain
30	chr11:17034600-17037000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:17034600-17037000	Active TSS	Right Atrium	heart
32	chr11:17034600-17037200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:17034600-17037200	Active TSS	Right Ventricle	heart
34	chr11:17034600-17037400	Active TSS	A549	lung
35	chr11:17034800-17035600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:17034800-17035600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr11:17034800-17035600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr11:17034800-17035800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:17034800-17035800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr11:17034800-17035800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:17034800-17035800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr11:17034800-17036400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:17034800-17036400	Active TSS	Brain Angular Gyrus	brain
44	chr11:17034800-17036400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:17034800-17036400	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:17034800-17036600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr11:17034800-17036600	Active TSS	Left Ventricle	heart
48	chr11:17034800-17036800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:17034800-17036800	Active TSS	Hela-S3	cervix
50	chr11:17034800-17036800	Bivalent/Poised TSS	HepG2	liver

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