Variant report

Variant	rs56715278
Chromosome Location	chr1:184590122-184590123
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184586812..184591239-chr1:184591803..184597596,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16823336	0.82[ASN][1000 genomes]
rs16823340	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16823344	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17255321	0.84[EUR][1000 genomes]
rs1832552	0.87[EUR][1000 genomes]
rs2207521	0.87[EUR][1000 genomes]
rs56691746	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60220474	0.87[EUR][1000 genomes]

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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1008237	chr1:184583205-184609820	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv525959	chr1:184583294-184595020	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv528925	chr1:184583294-184596584	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
2	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:184567200-184590200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:184571600-184591200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:184578200-184591400	Weak transcription	Lung	lung
7	chr1:184578600-184598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:184580600-184591000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:184580600-184591400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:184580800-184590200	Weak transcription	Right Atrium	heart
11	chr1:184580800-184590400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:184580800-184590600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:184580800-184591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:184580800-184605000	Weak transcription	Fetal Brain Female	brain
15	chr1:184581000-184590600	Weak transcription	Fetal Heart	heart
16	chr1:184581000-184590800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:184581000-184590800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:184581000-184590800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:184581000-184598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:184581000-184602200	Weak transcription	Brain Germinal Matrix	brain
21	chr1:184581400-184591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:184581400-184591400	Weak transcription	HMEC	breast
23	chr1:184582000-184590200	Weak transcription	NHEK	skin
24	chr1:184584600-184590600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:184584800-184590200	Weak transcription	Brain Angular Gyrus	brain
26	chr1:184584800-184591400	Weak transcription	Spleen	Spleen
27	chr1:184585000-184599600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:184585200-184597600	Weak transcription	Fetal Brain Male	brain
29	chr1:184585200-184611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:184586800-184590800	Weak transcription	Right Ventricle	heart
31	chr1:184586800-184593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:184587000-184591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:184587800-184590800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:184588400-184590200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:184588400-184592000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:184588600-184592200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:184588800-184592000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:184589000-184591000	Enhancers	Fetal Lung	lung
39	chr1:184589000-184592200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:184589000-184592400	Enhancers	Fetal Muscle Leg	muscle
41	chr1:184589200-184591000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:184589200-184592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:184589200-184594200	Enhancers	Ovary	ovary
44	chr1:184589200-184597200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:184589400-184590200	Enhancers	Placenta	Placenta
46	chr1:184589400-184590200	Enhancers	NHLF	lung
47	chr1:184589400-184591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:184589400-184591600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:184589400-184591800	Enhancers	Fetal Stomach	stomach
50	chr1:184589400-184594200	Enhancers	Colon Smooth Muscle	Colon

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