Variant report

Variant	rs11211015
Chromosome Location	chr1:45042741-45042742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45041622..45043509-chr1:45047717..45049476,2	K562	blood:
2	chr1:45037140..45040002-chr1:45040486..45044192,4	K562	blood:
3	chr1:45038059..45040987-chr1:45041821..45044367,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10158231	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11803094	1.00[CEU][hapmap]
rs11807223	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12119059	0.87[ASN][1000 genomes]
rs12127289	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs12568345	1.00[CEU][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs12569316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16832091	0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2355360	0.87[ASN][1000 genomes]
rs2378723	0.87[ASN][1000 genomes]
rs270715	0.93[ASN][1000 genomes]
rs270756	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs270757	0.91[ASN][1000 genomes]
rs270762	0.85[EUR][1000 genomes]
rs270768	0.92[JPT][hapmap]
rs34090807	0.87[ASN][1000 genomes]
rs3738734	0.95[ASN][1000 genomes]
rs3850851	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs3911861	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs56186608	0.88[ASN][1000 genomes]
rs58875175	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59485926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61260531	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61351118	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6670379	0.91[ASN][1000 genomes]
rs928685	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[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	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
3	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
4	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
5	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
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45023800-45047600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:45029800-45047800	Enhancers	Brain Hippocampus Middle	brain
4	chr1:45036800-45044200	Enhancers	Brain Substantia Nigra	brain
5	chr1:45039800-45042800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:45040000-45043200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:45040000-45047600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:45040200-45043200	Enhancers	Brain Angular Gyrus	brain
9	chr1:45040200-45046400	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:45040200-45047400	Enhancers	Brain Anterior Caudate	brain
11	chr1:45040800-45042800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:45041000-45043200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:45041000-45043200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:45041400-45043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:45041400-45043400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:45041600-45043200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:45041600-45043400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:45041600-45044200	Enhancers	Fetal Stomach	stomach
19	chr1:45041800-45043200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:45041800-45043200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:45041800-45044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:45042000-45042800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:45042000-45043000	Enhancers	Fetal Lung	lung
24	chr1:45042000-45043200	Enhancers	Lung	lung
25	chr1:45042200-45042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:45042200-45042800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:45042200-45043000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr1:45042200-45043200	Enhancers	NHEK	skin
29	chr1:45042200-45043400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:45042200-45048000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:45042200-45050600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:45042400-45043200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:45042400-45043200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:45042400-45051000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:45042600-45042800	Bivalent Enhancer	Fetal Kidney	kidney
36	chr1:45042600-45043200	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:45042600-45046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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