Variant report

Variant	rs545700444
Chromosome Location	chr11:17036447-17036448
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	SIN3A	chr11:17036072-17036993	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3AK20	chr11:17036308-17036897	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr11:17036326-17037110	A549	lung:	n/a	n/a
4	TCF7L2	chr11:17036425-17037189	Hela-S3	cervix:	n/a	n/a
5	HEY1	chr11:17035792-17036830	HepG2	liver:	n/a	chr11:17036094-17036109 chr11:17036047-17036062
6	CTCF	chr11:17036360-17036510	GM12864	blood:	n/a	n/a
7	CTCF	chr11:17036141-17037180	SK-N-SH	brain:	n/a	chr11:17036768-17036786
8	MYBL2	chr11:17036359-17036985	HepG2	liver:	n/a	n/a
9	MXI1	chr11:17035912-17037036	HepG2	liver:	n/a	n/a
10	BCL3	chr11:17036311-17036869	A549	lung:	n/a	chr11:17036590-17036599
11	YY1	chr11:17036293-17037057	A549	lung:	n/a	n/a
12	RXRA	chr11:17035978-17036473	HepG2	liver:	n/a	chr11:17036215-17036229 chr11:17036215-17036228
13	HA-E2F1	chr11:17035890-17036463	Hela-S3	cervix:	n/a	chr11:17036183-17036195 chr11:17036186-17036195
14	POLR2A	chr11:17036246-17036720	H1-neurons	neurons:	n/a	n/a
15	HA-E2F1	chr11:17036134-17036967	MCF-7	breast:	n/a	chr11:17036183-17036195 chr11:17036186-17036195
16	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
17	REST	chr11:17036038-17036831	H1-neurons	neurons:	n/a	n/a
18	ARID3A	chr11:17036440-17037210	HepG2	liver:	n/a	n/a
19	MYBL2	chr11:17036281-17036812	HepG2	liver:	n/a	n/a
20	TCF12	chr11:17036191-17037411	A549	lung:	n/a	n/a
21	POLR2A	chr11:17034447-17036458	MCF-7	breast:	n/a	n/a
22	EP300	chr11:17036007-17036860	HepG2	liver:	n/a	chr11:17036052-17036061 chr11:17036292-17036308 chr11:17036051-17036060
23	E2F4	chr11:17036391-17037272	MCF10A-Er-Src	breast:	n/a	n/a
24	JUN	chr11:17036382-17036917	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr11:17035785-17037243	A549	lung:	n/a	n/a
26	POLR2A	chr11:17035889-17036886	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:17034462-17036864	A549	lung:	n/a	n/a
28	MAX	chr11:17033937-17037316	A549	lung:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
29	FOXA1	chr11:17036009-17036449	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:17034371-17037065	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr11:17036315-17036561	A549	lung:	n/a	n/a
32	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
33	POLR2A	chr11:17035411-17036633	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:17034494-17036573	HepG2	liver:	n/a	n/a
35	GATA3	chr11:17036342-17037383	A549	lung:	n/a	n/a
36	CTCF	chr11:17036440-17036590	GM12872	blood:	n/a	n/a
37	CTCF	chr11:17036162-17037169	A549	lung:	n/a	chr11:17036768-17036786

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17036403-17036453	ovcar-3	ovarian:	n/a
2	chr11:17036403-17036453	RPTEC	kidney:	n/a
3	chr11:17036403-17036453	SAEC	small airway:	n/a
4	chr11:17036403-17036453	HL-60	blood:	n/a
5	chr11:17036403-17036453	HCF	heart:	n/a
6	chr11:17036403-17036453	SK-N-MC	brain:	n/a
7	chr11:17036403-17036453	H1-hESC	embryonic stem cell:	embryo
8	chr11:17036403-17036453	PANC-1	pancreas:	n/a
9	chr11:17036403-17036453	HCPEpiC	choroid plexus:	n/a
10	chr11:17036403-17036453	A549	lung:	n/a
11	chr11:17036403-17036453	HEEpiC	esophagus:	n/a
12	chr11:17036403-17036453	MCF10A-Er-Src	breast:	n/a
13	chr11:17036403-17036453	Hela-S3	cervix:	n/a
14	chr11:17036403-17036453	GM06990	blood:	n/a
15	chr11:17036403-17036453	HUVEC	blood vessel:	n/a
16	chr11:17036403-17036453	PrEC	prostate:	n/a
17	chr11:17036403-17036453	SK-N-SH_RA	brain:	n/a
18	chr11:17036403-17036453	LNCaP	prostate:	n/a
19	chr11:17036403-17036453	AG09319	gingival:	n/a
20	chr11:17036403-17036453	NT2-D1	testis:	n/a
21	chr11:17036403-17036453	BE2_C	brain:	n/a
22	chr11:17036403-17036453	GM12891	blood:	n/a
23	chr11:17036403-17036453	NH-A	brain:	n/a
24	chr11:17036403-17036453	HCT-116	colon:	n/a
25	chr11:17036403-17036453	BJ	skin:	n/a
26	chr11:17036403-17036453	HRCEpiC	kidney:	n/a
27	chr11:17036403-17036453	T-47D	breast:	n/a
28	chr11:17036403-17036453	HMEC	breast:	n/a
29	chr11:17036403-17036453	CMK	blood:	n/a
30	chr11:17036403-17036453	HIPEpiC	eye:	n/a
31	chr11:17036403-17036453	AoSMC	blood vessel:	n/a
32	chr11:17036403-17036453	Hepatocyte	liver:	n/a
33	chr11:17036403-17036453	GM12892	blood:	n/a
34	chr11:17036403-17036453	HNPCEpiC	eye:	n/a
35	chr11:17036403-17036453	AG04449	skin:	fetal
36	chr11:17036403-17036453	HRE	kidney:	n/a
37	chr11:17036403-17036453	HRPEpiC	eye:	n/a
38	chr11:17036403-17036453	HCM	heart:	n/a
39	chr11:17036403-17036453	MCF-7	breast:	n/a
40	chr11:17036403-17036453	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:17036403-17036453	AG10803	skin:	n/a
42	chr11:17036403-17036453	ProgFib	skin:	n/a
43	chr11:17036403-17036453	IMR90	lung:	fetal
44	chr11:17036403-17036453	ECC-1	luminal epithelium:	n/a
45	chr11:17036403-17036453	GM19239	blood:	n/a
46	chr11:17036403-17036453	NHBE	bronchial:	n/a
47	chr11:17036403-17036453	AG09309	skin:	n/a
48	chr11:17036403-17036453	Jurkat	blood:	n/a
49	chr11:17036403-17036453	U87	brain:	n/a
50	chr11:17036403-17036453	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16967271..16967926-chr11:17036420..17037064,2	MCF-7	breast:
2	chr11:17034631..17037564-chr11:17097951..17099758,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHA7	TF binding region
PLEKHA7	CpG island
ENSG00000110700	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
2	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
3	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
5	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
6	chr11:17034600-17036600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:17034600-17036600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:17034600-17036600	Active TSS	Aorta	Aorta
9	chr11:17034600-17036600	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:17034600-17036600	Active TSS	HSMMtube	muscle
11	chr11:17034600-17037000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:17034600-17037000	Active TSS	Brain Hippocampus Middle	brain
13	chr11:17034600-17037000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:17034600-17037000	Active TSS	Right Atrium	heart
15	chr11:17034600-17037200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:17034600-17037200	Active TSS	Right Ventricle	heart
17	chr11:17034600-17037400	Active TSS	A549	lung
18	chr11:17034800-17036600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr11:17034800-17036600	Active TSS	Left Ventricle	heart
20	chr11:17034800-17036800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:17034800-17036800	Active TSS	Hela-S3	cervix
22	chr11:17034800-17036800	Bivalent/Poised TSS	HepG2	liver
23	chr11:17034800-17037000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:17034800-17037000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:17034800-17037000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:17034800-17037200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:17034800-17037200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:17034800-17037400	Active TSS	Small Intestine	intestine
29	chr11:17035000-17036600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:17035000-17036600	Active TSS	Ovary	ovary
31	chr11:17035200-17036800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:17035200-17037200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:17035400-17036600	Active TSS	Placenta	Placenta
34	chr11:17035400-17036600	Active TSS	Lung	lung
35	chr11:17035400-17036600	Bivalent/Poised TSS	NHEK	skin
36	chr11:17035400-17036800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:17035400-17036800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr11:17035400-17036800	Active TSS	HSMM	muscle
39	chr11:17035400-17037000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:17035400-17037200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:17035400-17037200	Active TSS	Rectal Smooth Muscle	rectum
42	chr11:17035600-17036600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:17035600-17036600	Active TSS	Colonic Mucosa	Colon
44	chr11:17035600-17036800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:17036000-17036800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
46	chr11:17036000-17036800	Active TSS	Brain Germinal Matrix	brain
47	chr11:17036200-17036600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:17036200-17036600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:17036200-17036600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:17036200-17036600	Flanking Bivalent TSS/Enh	HMEC	breast

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