Variant report

Variant	rs558902044
Chromosome Location	chr2:55893367-55893368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55891954..55894358-chr2:55898574..55900895,2	K562	blood:

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	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
4	chr2:55860400-55905400	Weak transcription	Fetal Brain Male	brain
5	chr2:55864400-55919600	Weak transcription	NHLF	lung
6	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:55870800-55893400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:55870800-55903600	Weak transcription	Gastric	stomach
11	chr2:55870800-55909000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
13	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
14	chr2:55871200-55893400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:55871200-55905200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:55871400-55905200	Weak transcription	Fetal Kidney	kidney
17	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
18	chr2:55873800-55899400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
20	chr2:55879000-55896200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:55879200-55902800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:55879400-55914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:55881200-55913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:55881800-55898000	Weak transcription	NHDF-Ad	bronchial
26	chr2:55882000-55893400	Weak transcription	Right Ventricle	heart
27	chr2:55882000-55893400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:55882200-55909600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:55883000-55893400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:55883000-55906800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
32	chr2:55883200-55893400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:55883200-55906600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:55883400-55893400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:55883400-55906800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:55883800-55897600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:55884000-55897800	Weak transcription	HMEC	breast
38	chr2:55885600-55902600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:55886000-55896000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:55887400-55896000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:55887600-55898400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:55887800-55900200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:55887800-55900400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:55888000-55907200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:55888200-55893400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:55888400-55893400	Weak transcription	Colonic Mucosa	Colon
47	chr2:55888400-55895600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:55888600-55899600	Weak transcription	Fetal Brain Female	brain
49	chr2:55888600-55904200	Weak transcription	Esophagus	oesophagus
50	chr2:55888800-55905200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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