Variant report

Variant	rs12740646
Chromosome Location	chr1:44971778-44971779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12122791	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12124022	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12138940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12145658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs270724	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs72688085	0.83[ASN][1000 genomes]
rs72688091	0.90[ASN][1000 genomes]
rs72895565	0.90[ASN][1000 genomes]
rs7550459	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:34 , 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	chr1:44969000-44972000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:44969400-44972800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:44969400-44973000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:44969600-44972400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:44970000-44974000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:44970000-44974000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:44970200-44972400	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:44970200-44973000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:44970200-44973200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:44970400-44971800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:44970600-44973000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr1:44970600-44974200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr1:44970800-44972000	Enhancers	Fetal Muscle Leg	muscle
25	chr1:44970800-44973200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr1:44970800-44974400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr1:44970800-44974400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:44971000-44974200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr1:44971000-44974400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:44971200-44975200	Enhancers	Brain Hippocampus Middle	brain
31	chr1:44971400-44972400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:44971400-44972600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr1:44971400-44974800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr1:44971600-44975600	Weak transcription	Primary hematopoietic stem cells	blood

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