Variant report

Variant	rs544703997
Chromosome Location	chr11:17035935-17035936
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	chr11:17035799-17035964	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:17035828-17035959	A549	lung:	n/a	n/a
3	HEY1	chr11:17035792-17036830	HepG2	liver:	n/a	chr11:17036094-17036109 chr11:17036047-17036062
4	MXI1	chr11:17035912-17037036	HepG2	liver:	n/a	n/a
5	HEY1	chr11:17035811-17035975	HepG2	liver:	n/a	n/a
6	YY1	chr11:17035816-17035975	SK-N-SH_RA	brain:	n/a	chr11:17035953-17035967
7	POLR2A	chr11:17035817-17035952	HCT-116	colon:	n/a	n/a
8	HA-E2F1	chr11:17035890-17036463	Hela-S3	cervix:	n/a	chr11:17036183-17036195 chr11:17036186-17036195
9	YY1	chr11:17035814-17036002	HepG2	liver:	n/a	chr11:17035953-17035967
10	YY1	chr11:17035811-17035965	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
12	MAX	chr11:17035697-17036293	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
14	YY1	chr11:17035816-17035992	A549	lung:	n/a	chr11:17035953-17035967
15	POLR2A	chr11:17035832-17035950	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:17034447-17036458	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:17035826-17036235	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:17035818-17035965	A549	lung:	n/a	n/a
19	ZBTB7A	chr11:17035064-17036084	ECC-1	luminal epithelium:	n/a	n/a
20	YY1	chr11:17035814-17035981	GM12891	blood:	n/a	chr11:17035953-17035967
21	YY1	chr11:17035768-17035971	GM12878	blood:	n/a	chr11:17035953-17035967
22	MAX	chr11:17035785-17037243	A549	lung:	n/a	n/a
23	SIN3AK20	chr11:17034093-17036016	MCF-7	breast:	n/a	n/a
24	POLR2A	chr11:17035819-17036320	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr11:17035889-17036886	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:17034441-17036399	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:17034469-17036381	A549	lung:	n/a	n/a
28	TAF1	chr11:17035822-17036318	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:17034527-17036242	MCF-7	breast:	n/a	n/a
30	POLR2A	chr11:17035664-17036308	ProgFib	skin:	n/a	n/a
31	YY1	chr11:17035699-17036138	ECC-1	luminal epithelium:	n/a	chr11:17036049-17036063 chr11:17035953-17035967 chr11:17036052-17036061 chr11:17036052-17036066
32	POLR2A	chr11:17034462-17036864	A549	lung:	n/a	n/a
33	MAX	chr11:17033937-17037316	A549	lung:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
34	POLR2A	chr11:17035822-17036151	H1-neurons	neurons:	n/a	n/a
35	YY1	chr11:17035768-17036014	HCT-116	colon:	n/a	chr11:17035953-17035967
36	POLR2A	chr11:17034371-17037065	HepG2	liver:	n/a	n/a
37	CREB1	chr11:17035875-17036268	A549	lung:	n/a	n/a
38	YY1	chr11:17035605-17036166	ECC-1	luminal epithelium:	n/a	chr11:17036049-17036063 chr11:17035953-17035967 chr11:17036052-17036061 chr11:17036052-17036066
39	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
40	POLR2A	chr11:17035411-17036633	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:17034494-17036573	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:17035851-17035953	HepG2	liver:	n/a	n/a

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
ENSG00000110700	Chromatin interaction
ENSG00000251928	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
2	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
3	chr11:17034400-17036400	Active TSS	Osteobl	bone
4	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
5	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
7	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
8	chr11:17034600-17036400	Active TSS	Liver	Liver
9	chr11:17034600-17036400	Active TSS	Colon Smooth Muscle	Colon
10	chr11:17034600-17036400	Active TSS	Gastric	stomach
11	chr11:17034600-17036400	Active TSS	Psoas Muscle	Psoas
12	chr11:17034600-17036600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:17034600-17036600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:17034600-17036600	Active TSS	Aorta	Aorta
15	chr11:17034600-17036600	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:17034600-17036600	Active TSS	HSMMtube	muscle
17	chr11:17034600-17037000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:17034600-17037000	Active TSS	Brain Hippocampus Middle	brain
19	chr11:17034600-17037000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:17034600-17037000	Active TSS	Right Atrium	heart
21	chr11:17034600-17037200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:17034600-17037200	Active TSS	Right Ventricle	heart
23	chr11:17034600-17037400	Active TSS	A549	lung
24	chr11:17034800-17036400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:17034800-17036400	Active TSS	Brain Angular Gyrus	brain
26	chr11:17034800-17036400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:17034800-17036400	Active TSS	Stomach Smooth Muscle	stomach
28	chr11:17034800-17036600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr11:17034800-17036600	Active TSS	Left Ventricle	heart
30	chr11:17034800-17036800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:17034800-17036800	Active TSS	Hela-S3	cervix
32	chr11:17034800-17036800	Bivalent/Poised TSS	HepG2	liver
33	chr11:17034800-17037000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:17034800-17037000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:17034800-17037000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:17034800-17037200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:17034800-17037200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:17034800-17037400	Active TSS	Small Intestine	intestine
39	chr11:17035000-17036000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr11:17035000-17036400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:17035000-17036400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:17035000-17036600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:17035000-17036600	Active TSS	Ovary	ovary
44	chr11:17035200-17036400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:17035200-17036400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr11:17035200-17036400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:17035200-17036400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:17035200-17036400	Active TSS	Duodenum Mucosa	Duodenum
49	chr11:17035200-17036400	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:17035200-17036400	Bivalent/Poised TSS	Thymus	Thymus

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