Variant report

Variant	rs1587156
Chromosome Location	chr1:227791705-227791706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227788387..227792001-chr1:227793458..227797265,5	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1390402	0.80[AFR][1000 genomes]
rs1495844	1.00[AMR][1000 genomes]
rs1495854	1.00[AMR][1000 genomes]
rs1826774	0.80[AFR][1000 genomes]
rs1988973	1.00[AMR][1000 genomes]
rs2246657	1.00[AMR][1000 genomes]
rs2313246	0.80[AFR][1000 genomes]
rs2453681	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644148	1.00[AMR][1000 genomes]
rs2644152	1.00[AMR][1000 genomes]
rs2644155	1.00[AMR][1000 genomes]
rs2814058	1.00[AMR][1000 genomes]
rs2814065	1.00[AMR][1000 genomes]
rs2814076	1.00[AMR][1000 genomes]
rs2814083	1.00[AMR][1000 genomes]
rs2819499	1.00[AMR][1000 genomes]
rs2819504	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819505	1.00[YRI][hapmap]
rs2935148	0.80[AFR][1000 genomes]
rs2935150	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2935151	0.80[AFR][1000 genomes]
rs2999738	0.80[AFR][1000 genomes]
rs2999739	0.80[AFR][1000 genomes]
rs2999749	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010184	0.80[AFR][1000 genomes]
rs3010189	1.00[AMR][1000 genomes]
rs57057216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58943295	1.00[AMR][1000 genomes]
rs61745453	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs903688	1.00[AMR][1000 genomes]
rs963297	1.00[AMR][1000 genomes]

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	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227774800-227799200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:227774800-227805000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:227779200-227799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227781200-227800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:227784000-227798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:227784000-227799600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:227784200-227793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:227784200-227797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:227784400-227794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:227789600-227793000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr1:227790400-227792200	ZNF genes & repeats	Dnd41	blood
13	chr1:227790400-227792400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr1:227790400-227792400	ZNF genes & repeats	Fetal Lung	lung
15	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:227790600-227792000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:227790600-227792400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr1:227790600-227792800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr1:227790600-227792800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr1:227790600-227793000	ZNF genes & repeats	Fetal Stomach	stomach
21	chr1:227790800-227791800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:227790800-227792400	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr1:227790800-227792400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr1:227790800-227792800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr1:227790800-227801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:227791000-227792800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr1:227791000-227799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:227791200-227796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:227791400-227793800	Weak transcription	Left Ventricle	heart
30	chr1:227791400-227793800	Weak transcription	Right Atrium	heart
31	chr1:227791400-227793800	Weak transcription	Right Ventricle	heart
32	chr1:227791400-227798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:227791400-227798200	Weak transcription	Gastric	stomach
34	chr1:227791400-227799200	Weak transcription	Ovary	ovary
35	chr1:227791400-227799600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:227791400-227801000	Weak transcription	Psoas Muscle	Psoas

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