Variant report

Variant	rs560661311
Chromosome Location	chr1:44973241-44973242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:44952504..44954756-chr1:44972241..44973836,2	K562	blood:
2	chr1:44965779..44967986-chr1:44972874..44975622,2	K562	blood:
3	chr1:44971909..44974855-chr1:44979477..44982336,4	K562	blood:
4	chr1:44843919..44844491-chr1:44972615..44973562,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
5	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	esv1005212	chr1:44972573-44985674	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44966200-44975400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:44967400-44973400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:44967400-44973400	Enhancers	Brain Substantia Nigra	brain
4	chr1:44967600-44975200	Weak transcription	Right Atrium	heart
5	chr1:44968000-44974800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:44970000-44974000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:44970000-44974000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:44970600-44974200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr1:44970800-44974400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr1:44970800-44974400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:44971000-44974200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr1:44971000-44974400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:44971200-44975200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:44971400-44974800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr1:44971600-44975600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:44972000-44973600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr1:44972000-44973800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr1:44972400-44974400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:44972800-44973800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:44972800-44974400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr1:44972800-44974800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:44973000-44973400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr1:44973000-44973800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:44973000-44974000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:44973000-44974000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:44973000-44974000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:44973000-44974000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:44973000-44974200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:44973000-44974800	Enhancers	Brain Anterior Caudate	brain
30	chr1:44973200-44973400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:44973200-44973400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:44973200-44973400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:44973200-44973400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:44973200-44973600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:44973200-44973600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr1:44973200-44973600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:44973200-44974000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:44973200-44974000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:44973200-44977400	Enhancers	Brain Cingulate Gyrus	brain

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