Variant report

Variant	rs192379835
Chromosome Location	chr1:227799670-227799671
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	chr1:227798107..227799678-chr1:227830599..227832461,2	K562	blood:

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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945673	chr1:227799341-227819395	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227774800-227805000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:227781200-227800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:227790800-227801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:227791400-227801000	Weak transcription	Psoas Muscle	Psoas
7	chr1:227794400-227804400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:227794600-227800000	Weak transcription	Right Ventricle	heart
9	chr1:227794600-227802000	Weak transcription	Placenta	Placenta
10	chr1:227794600-227808600	Weak transcription	Left Ventricle	heart
11	chr1:227795200-227801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:227795200-227807000	Weak transcription	Fetal Heart	heart
13	chr1:227796200-227807200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:227796800-227801600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:227796800-227806000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:227797400-227799800	Weak transcription	HSMMtube	muscle
17	chr1:227797400-227803400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:227797600-227804800	ZNF genes & repeats	Fetal Stomach	stomach
19	chr1:227797800-227800400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:227797800-227800400	ZNF genes & repeats	Dnd41	blood
21	chr1:227797800-227804800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:227797800-227805800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr1:227797800-227806400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr1:227797800-227807200	ZNF genes & repeats	Fetal Brain Female	brain
25	chr1:227798000-227799800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr1:227798000-227800600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:227798000-227800600	Weak transcription	HUVEC	blood vessel
28	chr1:227798000-227800800	ZNF genes & repeats	Fetal Lung	lung
29	chr1:227798000-227804200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:227798000-227806400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr1:227798200-227799800	ZNF genes & repeats	Liver	Liver
32	chr1:227798200-227800000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:227798200-227800800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr1:227798200-227801200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:227798200-227801400	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr1:227798200-227806800	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr1:227798200-227806800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr1:227798200-227806800	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr1:227798200-227808000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:227798400-227801000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr1:227798400-227801000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr1:227798400-227801400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:227798400-227802200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:227798600-227800200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr1:227798600-227801400	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:227798600-227801800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr1:227798600-227803400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:227798800-227799800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:227798800-227800000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr1:227798800-227800000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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