Variant report

Variant	rs553806705
Chromosome Location	chr1:214778974-214778975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214777666..214779180-chr1:214780715..214782314,2	K562	blood:
2	chr1:214777011..214779791-chr1:214784551..214787409,3	K562	blood:

Variant related genes	Relation type
ENSG00000224584	Chromatin interaction
ENSG00000250536	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777200-214779200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:214777600-214779600	Weak transcription	Gastric	stomach
3	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
7	chr1:214777800-214779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:214777800-214780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:214777800-214781000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:214778000-214779000	Enhancers	Fetal Stomach	stomach
12	chr1:214778000-214780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:214778200-214779200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:214778200-214780400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:214778200-214780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:214778200-214780800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:214778200-214781000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:214778200-214782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:214778200-214782600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:214778200-214782600	Weak transcription	Fetal Lung	lung
22	chr1:214778200-214783000	Weak transcription	Fetal Kidney	kidney
23	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:214778200-214793000	Weak transcription	HSMM	muscle
28	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:214778400-214779200	Enhancers	Fetal Heart	heart
32	chr1:214778400-214781800	Weak transcription	K562	blood
33	chr1:214778400-214786600	Weak transcription	Osteobl	bone
34	chr1:214778400-214786800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:214778400-214794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:214778600-214779000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:214778600-214780200	Weak transcription	A549	lung
38	chr1:214778600-214780400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:214778600-214780800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:214778600-214780800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:214778600-214780800	Weak transcription	Thymus	Thymus
42	chr1:214778600-214782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:214778600-214782600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:214778600-214782600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:214778600-214788000	Weak transcription	Hela-S3	cervix
46	chr1:214778600-214791200	Weak transcription	NHEK	skin
47	chr1:214778800-214779000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:214778800-214779000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:214778800-214779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:214778800-214779600	Weak transcription	Fetal Thymus	thymus

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