Variant report

Variant	rs571726580
Chromosome Location	chr11:18728199-18728200
allele	A/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	chr11:18727752-18728272	SK-N-SH	brain:	n/a	n/a
2	TAF1	chr11:18727875-18728238	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr11:18726724-18728916	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:18727821-18728309	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:18728077-18728212	K562	blood:	n/a	n/a
6	CREB1	chr11:18727905-18728259	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA2	chr11:18727987-18728931	SH-SY5Y	brain:	n/a	chr11:18728846-18728853 chr11:18728846-18728853 chr11:18728846-18728853
8	CREB1	chr11:18727862-18728250	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
IGSF22	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3342768	chr11:18726926-18729124	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18726800-18728600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:18727000-18728800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:18727000-18728800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:18727000-18728800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:18727000-18728800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:18727000-18729000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:18727000-18729000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:18727200-18728400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:18727200-18728600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:18727200-18728600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:18727200-18728600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:18727200-18728800	Active TSS	Fetal Kidney	kidney
14	chr11:18727200-18730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:18727400-18728200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:18727400-18728200	Active TSS	Fetal Stomach	stomach
17	chr11:18727400-18728200	Bivalent/Poised TSS	HSMM	muscle
18	chr11:18727400-18728400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:18727400-18728400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:18727400-18728400	Active TSS	Aorta	Aorta
21	chr11:18727400-18728400	Active TSS	Brain Angular Gyrus	brain
22	chr11:18727400-18728600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:18727400-18728600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:18727400-18728600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:18727400-18728600	Active TSS	Fetal Intestine Large	intestine
26	chr11:18727400-18728800	Active TSS	Brain Anterior Caudate	brain
27	chr11:18727400-18729000	Active TSS	Colon Smooth Muscle	Colon
28	chr11:18727600-18728200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:18727600-18728200	Active TSS	Brain Hippocampus Middle	brain
30	chr11:18727600-18728200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:18727600-18728200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr11:18727600-18728200	Active TSS	Fetal Lung	lung
33	chr11:18727600-18728200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:18727600-18728200	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:18727600-18728200	Bivalent/Poised TSS	NH-A	brain
36	chr11:18727600-18728400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:18727600-18728400	Active TSS	Primary T cells from cord blood	blood
38	chr11:18727600-18728400	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:18727600-18728400	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:18727600-18728400	Active TSS	Fetal Brain Female	brain
41	chr11:18727600-18728400	Active TSS	Fetal Intestine Small	intestine
42	chr11:18727600-18728400	Active TSS	Gastric	stomach
43	chr11:18727600-18728400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr11:18727600-18728400	Active TSS	Stomach Mucosa	stomach
45	chr11:18727600-18728600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:18727600-18728600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:18727600-18728600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:18727600-18728600	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:18727600-18728600	Active TSS	Liver	Liver
50	chr11:18727600-18728600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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