Variant report

Variant	rs548824863
Chromosome Location	chr1:214781168-214781169
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	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:

Variant related genes	Relation type
ENSG00000117724	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv14763	chr1:214778841-214782576	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv549181	chr1:214780209-214782492	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3427707	chr1:214780854-214783702	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
5	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:214778200-214782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:214778200-214782600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:214778200-214782600	Weak transcription	Fetal Lung	lung
10	chr1:214778200-214783000	Weak transcription	Fetal Kidney	kidney
11	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:214778200-214793000	Weak transcription	HSMM	muscle
16	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:214778400-214781800	Weak transcription	K562	blood
20	chr1:214778400-214786600	Weak transcription	Osteobl	bone
21	chr1:214778400-214786800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:214778400-214794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:214778600-214782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:214778600-214782600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:214778600-214782600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:214778600-214788000	Weak transcription	Hela-S3	cervix
27	chr1:214778600-214791200	Weak transcription	NHEK	skin
28	chr1:214778800-214781400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:214778800-214782600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:214778800-214782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:214778800-214782600	Weak transcription	HUVEC	blood vessel
32	chr1:214778800-214782800	Weak transcription	Fetal Brain Female	brain
33	chr1:214778800-214783200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr1:214778800-214783200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:214778800-214783400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:214778800-214783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:214778800-214786000	Weak transcription	NHDF-Ad	bronchial
38	chr1:214778800-214786600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:214778800-214787600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:214778800-214787800	Weak transcription	HepG2	liver
41	chr1:214778800-214788800	Weak transcription	HMEC	breast
42	chr1:214778800-214794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:214779000-214781800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:214779000-214782800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:214779000-214783200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:214779200-214783000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:214779400-214781200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:214779600-214781800	Strong transcription	Fetal Stomach	stomach
49	chr1:214779600-214783200	Strong transcription	Fetal Thymus	thymus
50	chr1:214779800-214782200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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