Variant report

Variant	rs554847889
Chromosome Location	chr1:215255683-215255684
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	CTBP2	chr1:215255151-215256317	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr1:215255617-215257431	IMR90	lung:	n/a	chr1:215256538-215256548 chr1:215256544-215256554
3	MXI1	chr1:215255517-215257345	IMR90	lung:	n/a	n/a
4	REST	chr1:215255587-215257488	H1-neurons	neurons:	n/a	chr1:215256946-215256959 chr1:215257126-215257146 chr1:215257132-215257146
5	CTCF	chr1:215255660-215255810	AG04449	skin:	n/a	n/a
6	POLR2A	chr1:215255621-215256465	ProgFib	skin:	n/a	n/a
7	POLR2A	chr1:215255555-215256408	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr1:215255676-215256365	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
KCNK2	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3353761	chr1:215255604-215257627	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:215254800-215259000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215254800-215260000	Active TSS	Fetal Brain Female	brain
5	chr1:215255000-215255800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
6	chr1:215255000-215256000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:215255000-215256000	Enhancers	Pancreas	Pancrea
8	chr1:215255000-215256200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr1:215255000-215256800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr1:215255000-215257000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr1:215255000-215257200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr1:215255000-215257200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:215255000-215257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:215255000-215257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:215255000-215258400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:215255200-215255800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr1:215255200-215255800	Bivalent Enhancer	Fetal Lung	lung
18	chr1:215255200-215255800	Flanking Active TSS	NHLF	lung
19	chr1:215255200-215256000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr1:215255200-215256000	Bivalent Enhancer	Fetal Heart	heart
21	chr1:215255200-215256000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr1:215255200-215256000	Flanking Active TSS	NH-A	brain
23	chr1:215255200-215256200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr1:215255200-215256800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:215255200-215256800	Active TSS	Brain Anterior Caudate	brain
26	chr1:215255200-215257000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:215255200-215257000	Enhancers	Spleen	Spleen
28	chr1:215255200-215257200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:215255200-215257200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:215255200-215258600	Active TSS	Fetal Brain Male	brain
31	chr1:215255200-215259000	Active TSS	NHDF-Ad	bronchial
32	chr1:215255400-215255800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr1:215255400-215255800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:215255400-215255800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:215255400-215255800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:215255400-215255800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:215255400-215255800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:215255400-215255800	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr1:215255400-215255800	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr1:215255400-215255800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr1:215255400-215255800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:215255400-215255800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr1:215255400-215256000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr1:215255400-215256000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr1:215255400-215256000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
46	chr1:215255400-215256000	Bivalent Enhancer	Esophagus	oesophagus
47	chr1:215255400-215256000	Flanking Bivalent TSS/Enh	NHEK	skin
48	chr1:215255400-215256200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:215255400-215256200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr1:215255400-215256600	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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