Variant report

Variant	rs572985354
Chromosome Location	chr11:106889181-106889182
allele	-/GAGGCA
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	MAX	chr11:106889113-106889579	A549	lung:	n/a	chr11:106889325-106889334
2	POLR2A	chr11:106889010-106889233	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr11:106888915-106889231	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:106889061-106889581	A549	lung:	n/a	chr11:106889325-106889334
5	POLR2A	chr11:106888212-106889566	H1-neurons	neurons:	n/a	n/a
6	E2F6	chr11:106888240-106890254	H1-hESC	embryonic stem cell:	n/a	chr11:106889737-106889754 chr11:106889740-106889751 chr11:106889739-106889748 chr11:106890065-106890082 chr11:106889737-106889754 chr11:106889740-106889751 chr11:106889740-106889747 chr11:106889740-106889751 chr11:106889739-106889750 chr11:106889740-106889751 chr11:106889737-106889754 chr11:106889740-106889751 chr11:106890072-106890079
7	POLR2A	chr11:106888968-106889224	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr11:106889025-106890427	H1-hESC	embryonic stem cell:	n/a	chr11:106889737-106889754 chr11:106889740-106889751 chr11:106889739-106889748 chr11:106890065-106890082 chr11:106889737-106889754 chr11:106889740-106889751 chr11:106889740-106889747 chr11:106889740-106889751 chr11:106889739-106889750 chr11:106889740-106889751 chr11:106889737-106889754 chr11:106889740-106889751 chr11:106890072-106890079
9	USF1	chr11:106889170-106889461	SK-N-SH_RA	brain:	n/a	chr11:106889323-106889334
10	CHD2	chr11:106889075-106889456	H1-hESC	embryonic stem cell:	n/a	chr11:106889149-106889159
11	REST	chr11:106889146-106890650	HL-60	blood:	n/a	chr11:106889936-106889945 chr11:106889762-106889772 chr11:106889843-106889850 chr11:106889419-106889432 chr11:106890013-106890026
12	REST	chr11:106888979-106890443	PFSK-1	brain:	n/a	chr11:106889936-106889945 chr11:106889762-106889772 chr11:106889140-106889153 chr11:106889843-106889850 chr11:106889419-106889432 chr11:106890013-106890026
13	REST	chr11:106888491-106889205	ECC-1	luminal epithelium:	n/a	chr11:106889140-106889153 chr11:106888782-106888795
14	POLR2A	chr11:106888884-106890125	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr11:106887923-106890438	H1-neurons	neurons:	n/a	chr11:106889936-106889945 chr11:106889762-106889772 chr11:106888405-106888418 chr11:106889140-106889153 chr11:106888173-106888186 chr11:106888782-106888795 chr11:106889843-106889850 chr11:106889419-106889432 chr11:106890013-106890026
16	POLR2A	chr11:106889052-106889449	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr11:106888961-106889557	H1-neurons	neurons:	n/a	n/a
18	MAX	chr11:106888945-106890290	SK-N-SH	brain:	n/a	chr11:106889325-106889334
19	USF1	chr11:106889130-106889552	SK-N-SH	brain:	n/a	chr11:106889323-106889334 chr11:106889151-106889167
20	ZNF143	chr11:106888188-106889234	H1-hESC	embryonic stem cell:	n/a	chr11:106888785-106888795
21	POLR2A	chr11:106888197-106889632	H1-neurons	neurons:	n/a	n/a
22	MAX	chr11:106889036-106890158	SK-N-SH	brain:	n/a	chr11:106889325-106889334
23	REST	chr11:106888117-106890482	PFSK-1	brain:	n/a	chr11:106889936-106889945 chr11:106889762-106889772 chr11:106888405-106888418 chr11:106889140-106889153 chr11:106888173-106888186 chr11:106888782-106888795 chr11:106889843-106889850 chr11:106889419-106889432 chr11:106890013-106890026
24	REST	chr11:106889170-106890563	SK-N-SH	brain:	n/a	chr11:106889936-106889945 chr11:106889762-106889772 chr11:106889843-106889850 chr11:106889419-106889432 chr11:106890013-106890026
25	MAX	chr11:106889032-106890271	H1-hESC	embryonic stem cell:	n/a	chr11:106889325-106889334
26	TAF1	chr11:106888927-106889260	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr11:106888560-106890153	ECC-1	luminal epithelium:	n/a	chr11:106889325-106889334
28	MAX	chr11:106888951-106890267	H1-hESC	embryonic stem cell:	n/a	chr11:106889325-106889334

Variant related genes	Relation type
GUCY1A2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531938	chr11:106760733-107156814	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3378270	chr11:106887267-106890115	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3390031	chr11:106887567-106891165	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106885800-106890000	Active TSS	Brain Anterior Caudate	brain
2	chr11:106886400-106889400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr11:106886400-106889600	Bivalent/Poised TSS	Left Ventricle	heart
4	chr11:106886400-106890000	Active TSS	Brain Hippocampus Middle	brain
5	chr11:106886400-106890000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:106886400-106890000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:106886800-106890000	Active TSS	Brain Angular Gyrus	brain
8	chr11:106887200-106889200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr11:106887400-106890400	Active TSS	Brain Substantia Nigra	brain
10	chr11:106887600-106889400	Active TSS	Fetal Intestine Small	intestine
11	chr11:106887800-106889200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:106887800-106889600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:106887800-106889600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:106887800-106889600	Active TSS	Fetal Brain Female	brain
15	chr11:106887800-106890000	Active TSS	Ovary	ovary
16	chr11:106887800-106890400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:106888000-106889400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:106888000-106889400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr11:106888000-106889400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:106888000-106889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:106888000-106889400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:106888000-106889400	Active TSS	Fetal Intestine Large	intestine
23	chr11:106888000-106889400	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:106888000-106889600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:106888200-106889200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:106888200-106889200	Active TSS	Lung	lung
27	chr11:106888200-106889200	Bivalent/Poised TSS	HSMM	muscle
28	chr11:106888200-106889400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:106888200-106889400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:106888200-106889400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:106888200-106889400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:106888200-106889400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:106888200-106889400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:106888200-106889400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:106888200-106889400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:106888200-106889400	Active TSS	Colonic Mucosa	Colon
37	chr11:106888200-106889400	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr11:106888200-106889400	Active TSS	Gastric	stomach
39	chr11:106888200-106889400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:106888200-106889400	Active TSS	NHLF	lung
41	chr11:106888200-106889600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:106888200-106890000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:106888200-106890000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:106888200-106890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:106888200-106890000	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:106888200-106890200	Active TSS	Right Atrium	heart
47	chr11:106888200-106890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:106888400-106889200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:106888400-106889200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr11:106888400-106889200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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