Variant report

Variant	rs36022363
Chromosome Location	chr2:48688463-48688464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48684437..48686849-chr2:48687895..48689698,2	K562	blood:
2	chr2:48683830..48685937-chr2:48687115..48689395,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13021354	0.86[AFR][1000 genomes]
rs34442261	0.86[AFR][1000 genomes]
rs34901329	0.86[AFR][1000 genomes]

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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
3	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
4	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:48676200-48692000	Weak transcription	Psoas Muscle	Psoas
8	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
12	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:48678400-48688600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:48678400-48695600	Strong transcription	Dnd41	blood
15	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
24	chr2:48679600-48693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:48679600-48697800	Weak transcription	Fetal Heart	heart
26	chr2:48680000-48696200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:48680400-48695800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:48680800-48696600	Strong transcription	Liver	Liver
30	chr2:48681000-48691600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:48681000-48696400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr2:48681200-48699400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:48681600-48695400	Strong transcription	HepG2	liver
34	chr2:48681600-48696200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:48681600-48696200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:48681600-48696200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:48681600-48696400	Strong transcription	Fetal Intestine Large	intestine
38	chr2:48681600-48696800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:48681800-48688800	Strong transcription	Colon Smooth Muscle	Colon
40	chr2:48681800-48691400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:48681800-48692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:48681800-48696000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:48681800-48696200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:48681800-48696400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:48681800-48696400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:48681800-48696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:48682000-48690400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:48682200-48688600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:48682200-48688600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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