Variant report

Variant	rs424345
Chromosome Location	chr22:28182510-28182511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28123990..28126806-chr22:28182257..28184239,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13055370	1.00[AFR][1000 genomes]
rs45487796	1.00[AFR][1000 genomes]

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	nsv1059972	chr22:28089263-28227579	Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv829144	chr22:28172266-28209317	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28170600-28192600	Weak transcription	HMEC	breast
2	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:28172000-28183400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:28176600-28191000	Weak transcription	NHEK	skin
5	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
6	chr22:28177600-28188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:28178400-28183600	Weak transcription	Right Ventricle	heart
8	chr22:28179600-28182800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:28179600-28183200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28179600-28183200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr22:28179800-28182800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr22:28179800-28182800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:28179800-28183000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr22:28179800-28183000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:28179800-28183000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr22:28179800-28183600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr22:28179800-28183800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr22:28179800-28185800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr22:28180000-28186200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:28180000-28187400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
23	chr22:28180400-28183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:28180400-28186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:28180600-28182600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr22:28180600-28182800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:28180800-28182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:28180800-28182800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:28180800-28186400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:28181200-28186800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:28181400-28182600	Enhancers	Fetal Muscle Trunk	muscle
33	chr22:28181400-28183200	Enhancers	Primary hematopoietic stem cells	blood
34	chr22:28181400-28183600	Enhancers	Fetal Stomach	stomach
35	chr22:28181400-28187600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:28181600-28182600	Weak transcription	Brain Anterior Caudate	brain
37	chr22:28181600-28183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:28181600-28187000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:28181800-28182600	Flanking Active TSS	Fetal Brain Male	brain
40	chr22:28182000-28182600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr22:28182000-28182800	Enhancers	Ovary	ovary
42	chr22:28182000-28183000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr22:28182000-28183000	Enhancers	Psoas Muscle	Psoas
44	chr22:28182200-28182600	Enhancers	Aorta	Aorta
45	chr22:28182200-28182600	Transcr. at gene 5' and 3'	NH-A	brain
46	chr22:28182200-28182800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr22:28182200-28183000	Weak transcription	Brain Substantia Nigra	brain
48	chr22:28182200-28183400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr22:28182200-28184200	Weak transcription	Fetal Muscle Leg	muscle
50	chr22:28182400-28182600	Active TSS	Fetal Brain Female	brain

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