Variant report

Variant	rs529901343
Chromosome Location	chr11:17034919-17034920
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	HDAC2	chr11:17034320-17035088	MCF-7	breast:	n/a	n/a
3	NR2F2	chr11:17034254-17035658	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr11:17034181-17035081	A549	lung:	n/a	n/a
5	EP300	chr11:17034233-17034939	HepG2	liver:	n/a	n/a
6	REST	chr11:17034172-17035254	A549	lung:	n/a	n/a
7	TBP	chr11:17034430-17035004	HepG2	liver:	n/a	n/a
8	RXRA	chr11:17034360-17035039	HepG2	liver:	n/a	n/a
9	ZNF263	chr11:17034630-17035742	HEK293-T-REx	kidney:	n/a	n/a
10	GABPA	chr11:17034286-17035011	A549	lung:	n/a	n/a
11	FOXA2	chr11:17034226-17035034	A549	lung:	n/a	n/a
12	BCL3	chr11:17034242-17034926	A549	lung:	n/a	n/a
13	RCOR1	chr11:17034318-17034946	HepG2	liver:	n/a	n/a
14	MAX	chr11:17034542-17035432	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
15	FOXA1	chr11:17034323-17035023	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:17034467-17035180	HepG2	liver:	n/a	n/a
17	MYBL2	chr11:17034056-17034992	HepG2	liver:	n/a	n/a
18	JUND	chr11:17034809-17035203	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr11:17034826-17035018	H1-hESC	embryonic stem cell:	n/a	chr11:17034993-17035006
20	SP1	chr11:17034067-17035182	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
21	SIN3A	chr11:17034401-17035824	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:17034323-17035634	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr11:17034246-17034919	MCF-7	breast:	n/a	chr11:17034449-17034460
24	MXI1	chr11:17034816-17035286	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:17034751-17035725	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
27	ETS1	chr11:17034409-17035090	A549	lung:	n/a	chr11:17034887-17034894
28	NR3C1	chr11:17033959-17035385	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
29	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
30	CREB1	chr11:17034354-17035789	A549	lung:	n/a	n/a
31	MYBL2	chr11:17034234-17035081	HepG2	liver:	n/a	n/a
32	JUND	chr11:17034369-17035121	A549	lung:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034528-17034539 chr11:17034595-17034606 chr11:17034531-17034542
33	SP1	chr11:17034068-17035238	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
34	TAF1	chr11:17034542-17035806	HepG2	liver:	n/a	n/a
35	HEY1	chr11:17034399-17035663	HepG2	liver:	n/a	chr11:17035459-17035474 chr11:17035506-17035521 chr11:17035404-17035419
36	SIN3AK20	chr11:17034516-17034961	A549	lung:	n/a	n/a
37	EP300	chr11:17034215-17035362	A549	lung:	n/a	n/a
38	POLR2A	chr11:17034447-17036458	MCF-7	breast:	n/a	n/a
39	MAX	chr11:17034314-17035710	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
40	CTCF	chr11:17034780-17034930	Caco-2	colon:	n/a	n/a
41	FOSL2	chr11:17033803-17035229	A549	lung:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
42	NR3C1	chr11:17034127-17035370	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
43	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
44	MYC	chr11:17034911-17034993	H1-hESC	embryonic stem cell:	n/a	chr11:17034979-17034989
45	POLR2A	chr11:17034554-17035781	A549	lung:	n/a	n/a
46	MBD4	chr11:17034283-17034923	HepG2	liver:	n/a	n/a
47	HA-E2F1	chr11:17034464-17035763	MCF-7	breast:	n/a	chr11:17035370-17035377
48	MAX	chr11:17034216-17035488	A549	lung:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
49	MAX	chr11:17034437-17035185	MCF-7	breast:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
50	GABPA	chr11:17034346-17035079	MCF-7	breast:	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
OR7E14P	TF binding region
PLEKHA7	TF binding region
ENSG00000244398	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000251928	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17034000-17035000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr11:17034200-17035000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr11:17034200-17035000	Active TSS	Colonic Mucosa	Colon
4	chr11:17034200-17035000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:17034200-17035400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:17034200-17035400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:17034200-17035400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:17034200-17035600	Active TSS	Stomach Mucosa	stomach
9	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
11	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
12	chr11:17034400-17035000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:17034400-17035600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:17034400-17036400	Active TSS	Osteobl	bone
15	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
16	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
18	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
19	chr11:17034600-17035000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17034600-17035000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:17034600-17035000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:17034600-17035000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:17034600-17035000	Bivalent/Poised TSS	Fetal Lung	lung
24	chr11:17034600-17035000	Flanking Active TSS	Ovary	ovary
25	chr11:17034600-17035000	Bivalent Enhancer	Spleen	Spleen
26	chr11:17034600-17035200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:17034600-17035200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:17034600-17035200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr11:17034600-17035200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:17034600-17035200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:17034600-17035200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr11:17034600-17035200	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr11:17034600-17035200	Bivalent Enhancer	HMEC	breast
34	chr11:17034600-17035400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:17034600-17035400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr11:17034600-17035400	Flanking Active TSS	Placenta	Placenta
37	chr11:17034600-17035400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
38	chr11:17034600-17035400	Flanking Active TSS	HSMM	muscle
39	chr11:17034600-17035400	Flanking Active TSS	HUVEC	blood vessel
40	chr11:17034600-17035600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:17034600-17035600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:17034600-17035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:17034600-17035600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr11:17034600-17035600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr11:17034600-17035600	Flanking Active TSS	NH-A	brain
46	chr11:17034600-17035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:17034600-17035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:17034600-17036400	Active TSS	Liver	Liver
49	chr11:17034600-17036400	Active TSS	Colon Smooth Muscle	Colon
50	chr11:17034600-17036400	Active TSS	Gastric	stomach

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