Variant report

Variant	rs72688085
Chromosome Location	chr1:44970951-44970952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12138940	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12740646	0.83[ASN][1000 genomes]
rs72688091	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7550459	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:36 , 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	chr1:44966800-44973000	Enhancers	Brain Angular Gyrus	brain
3	chr1:44967200-44972200	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:44967200-44973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:44967400-44972600	Enhancers	Brain Anterior Caudate	brain
6	chr1:44967400-44973400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:44967400-44973400	Enhancers	Brain Substantia Nigra	brain
8	chr1:44967600-44975200	Weak transcription	Right Atrium	heart
9	chr1:44967800-44972200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:44968000-44972800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:44968000-44974800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:44968200-44971000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:44969000-44972000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:44969200-44971600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:44969400-44971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:44969400-44972800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:44969400-44973000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:44969600-44972400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:44970000-44971000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr1:44970000-44974000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:44970000-44974000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:44970200-44972400	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:44970200-44973000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:44970200-44973200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:44970400-44971200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr1:44970400-44971800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:44970600-44971200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:44970600-44971200	Bivalent Enhancer	NH-A	brain
29	chr1:44970600-44971400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:44970600-44973000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr1:44970600-44974200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr1:44970800-44971200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr1:44970800-44972000	Enhancers	Fetal Muscle Leg	muscle
34	chr1:44970800-44973200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr1:44970800-44974400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr1:44970800-44974400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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