Variant report

Variant	rs552978125
Chromosome Location	chr22:28189341-28189342
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	chr22:28189285-28189395	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:28189266-28189415	GM12891	blood:	n/a	n/a
3	POLR2A	chr22:28189302-28189380	A549	lung:	n/a	n/a
4	POLR2A	chr22:28189270-28189411	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:28189278-28189404	A549	lung:	n/a	n/a
6	POLR2A	chr22:28189296-28189384	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:28189314-28189368	A549	lung:	n/a	n/a
8	POLR2A	chr22:28189307-28189376	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:28189244-28189438	GM12892	blood:	n/a	n/a
10	POU2F2	chr22:28189292-28189389	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:28189306-28189375	A549	lung:	n/a	n/a
12	POLR2A	chr22:28189284-28189397	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28188789..28191463-chr22:28191867..28193850,2	MCF-7	breast:

Variant related genes	Relation type
MN1	TF binding region
ENSG00000169184	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv518700	chr22:28188203-28203750	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2210205	chr22:28189132-28189575	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 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	chr22:28176600-28191000	Weak transcription	NHEK	skin
4	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
5	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
7	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:28182800-28189800	Weak transcription	Ovary	ovary
9	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:28186200-28190200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
13	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:28186400-28190200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:28186600-28192800	Weak transcription	Lung	lung
16	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28187000-28189800	Enhancers	Primary hematopoietic stem cells	blood
18	chr22:28187000-28190000	Active TSS	Fetal Brain Female	brain
19	chr22:28187400-28189600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:28187400-28190600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr22:28187400-28190800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr22:28187400-28191200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:28187600-28189600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:28187600-28189600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr22:28187600-28190200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr22:28187600-28191000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:28187600-28192600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:28187800-28189400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr22:28187800-28190200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:28187800-28190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:28187800-28190400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr22:28187800-28192200	Active TSS	Fetal Brain Male	brain
33	chr22:28188000-28189400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:28188000-28189600	Enhancers	Fetal Muscle Leg	muscle
35	chr22:28188000-28189600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:28188000-28190200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:28188200-28190200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr22:28188200-28190200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr22:28188400-28190600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:28188400-28190800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:28188400-28192600	Enhancers	Adipose Nuclei	Adipose
42	chr22:28188600-28198600	Active TSS	Aorta	Aorta
43	chr22:28188800-28190600	Enhancers	Psoas Muscle	Psoas
44	chr22:28188800-28191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:28188800-28193400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr22:28189000-28189400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:28189000-28189400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr22:28189000-28189800	Bivalent Enhancer	Fetal Kidney	kidney
49	chr22:28189000-28190400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:28189000-28191000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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