Variant report

Variant	rs571793774
Chromosome Location	chr11:17035031-17035032
allele	C/T
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	REST	chr11:17034172-17035254	A549	lung:	n/a	n/a
6	RXRA	chr11:17034360-17035039	HepG2	liver:	n/a	n/a
7	ZNF263	chr11:17034630-17035742	HEK293-T-REx	kidney:	n/a	n/a
8	FOXA2	chr11:17034226-17035034	A549	lung:	n/a	n/a
9	MAX	chr11:17034542-17035432	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
10	POLR2A	chr11:17034467-17035180	HepG2	liver:	n/a	n/a
11	JUND	chr11:17034809-17035203	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr11:17034067-17035182	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
13	SIN3A	chr11:17034401-17035824	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:17034323-17035634	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr11:17034816-17035286	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:17034751-17035725	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
18	ETS1	chr11:17034409-17035090	A549	lung:	n/a	chr11:17034887-17034894
19	NR3C1	chr11:17033959-17035385	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
20	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
21	CREB1	chr11:17034354-17035789	A549	lung:	n/a	n/a
22	MYBL2	chr11:17034234-17035081	HepG2	liver:	n/a	n/a
23	JUND	chr11:17034369-17035121	A549	lung:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034528-17034539 chr11:17034595-17034606 chr11:17034531-17034542
24	SP1	chr11:17034068-17035238	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
25	TAF1	chr11:17034542-17035806	HepG2	liver:	n/a	n/a
26	HEY1	chr11:17034399-17035663	HepG2	liver:	n/a	chr11:17035459-17035474 chr11:17035506-17035521 chr11:17035404-17035419
27	EP300	chr11:17034215-17035362	A549	lung:	n/a	n/a
28	POLR2A	chr11:17034447-17036458	MCF-7	breast:	n/a	n/a
29	MAX	chr11:17034314-17035710	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
30	FOSL2	chr11:17033803-17035229	A549	lung:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
31	NR3C1	chr11:17034127-17035370	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
32	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
33	POLR2A	chr11:17034554-17035781	A549	lung:	n/a	n/a
34	HA-E2F1	chr11:17034464-17035763	MCF-7	breast:	n/a	chr11:17035370-17035377
35	CEBPD	chr11:17034926-17035668	HepG2	liver:	n/a	n/a
36	MAX	chr11:17034216-17035488	A549	lung:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
37	MAX	chr11:17034437-17035185	MCF-7	breast:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
38	GABPA	chr11:17034346-17035079	MCF-7	breast:	n/a	n/a
39	SIN3AK20	chr11:17034093-17036016	MCF-7	breast:	n/a	n/a
40	TAF1	chr11:17034406-17035367	A549	lung:	n/a	n/a
41	POLR2A	chr11:17034441-17036399	MCF-7	breast:	n/a	n/a
42	TBP	chr11:17034872-17035419	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr11:17034552-17035054	HepG2	liver:	n/a	n/a
44	EP300	chr11:17034130-17035262	A549	lung:	n/a	n/a
45	HDAC2	chr11:17034328-17035458	HepG2	liver:	n/a	chr11:17035282-17035290
46	POLR2A	chr11:17034469-17036381	A549	lung:	n/a	n/a
47	YY1	chr11:17034834-17035268	A549	lung:	n/a	n/a
48	REST	chr11:17034542-17035277	A549	lung:	n/a	n/a
49	POLR2A	chr11:17034527-17036242	MCF-7	breast:	n/a	n/a
50	FOS	chr11:17034270-17035198	HUVEC	blood vessel:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542

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
ENSG00000251928	Chromatin interaction
ENSG00000244398	Chromatin interaction
ENSG00000110700	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17034200-17035400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:17034200-17035400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:17034200-17035400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr11:17034200-17035600	Active TSS	Stomach Mucosa	stomach
5	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
7	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
8	chr11:17034400-17035600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:17034400-17036400	Active TSS	Osteobl	bone
10	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
11	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
13	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
14	chr11:17034600-17035200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:17034600-17035200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:17034600-17035200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr11:17034600-17035200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:17034600-17035200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:17034600-17035200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr11:17034600-17035200	Flanking Bivalent TSS/Enh	Thymus	Thymus
21	chr11:17034600-17035200	Bivalent Enhancer	HMEC	breast
22	chr11:17034600-17035400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:17034600-17035400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr11:17034600-17035400	Flanking Active TSS	Placenta	Placenta
25	chr11:17034600-17035400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr11:17034600-17035400	Flanking Active TSS	HSMM	muscle
27	chr11:17034600-17035400	Flanking Active TSS	HUVEC	blood vessel
28	chr11:17034600-17035600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:17034600-17035600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:17034600-17035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:17034600-17035600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr11:17034600-17035600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr11:17034600-17035600	Flanking Active TSS	NH-A	brain
34	chr11:17034600-17035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:17034600-17035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:17034600-17036400	Active TSS	Liver	Liver
37	chr11:17034600-17036400	Active TSS	Colon Smooth Muscle	Colon
38	chr11:17034600-17036400	Active TSS	Gastric	stomach
39	chr11:17034600-17036400	Active TSS	Psoas Muscle	Psoas
40	chr11:17034600-17036600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:17034600-17036600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:17034600-17036600	Active TSS	Aorta	Aorta
43	chr11:17034600-17036600	Active TSS	Brain Cingulate Gyrus	brain
44	chr11:17034600-17036600	Active TSS	HSMMtube	muscle
45	chr11:17034600-17037000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:17034600-17037000	Active TSS	Brain Hippocampus Middle	brain
47	chr11:17034600-17037000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:17034600-17037000	Active TSS	Right Atrium	heart
49	chr11:17034600-17037200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:17034600-17037200	Active TSS	Right Ventricle	heart

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