Variant report

Variant	rs1339571
Chromosome Location	chr1:184567933-184567934
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	chr1:184566386..184568349-chr1:184568918..184571787,2	K562	blood:
2	chr1:184565840..184568814-chr1:184577675..184580336,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1006224	0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10465489	0.97[ASN][1000 genomes]
rs12072648	0.96[ASN][1000 genomes]
rs12747629	0.94[ASN][1000 genomes]
rs1339572	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs61825243	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184547800-184580000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:184557200-184574000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
4	chr1:184558600-184568000	Weak transcription	Pancreas	Pancrea
5	chr1:184558600-184572600	Weak transcription	Lung	lung
6	chr1:184559000-184588400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:184559200-184580400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:184559400-184580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:184559600-184578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:184560600-184571400	Weak transcription	Fetal Intestine Large	intestine
11	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:184562400-184580000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:184562800-184579600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:184563000-184573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:184563800-184573600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:184564200-184580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:184564200-184580200	Weak transcription	Ovary	ovary
18	chr1:184564400-184574200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:184564400-184578200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:184565000-184578200	Weak transcription	Esophagus	oesophagus
21	chr1:184565200-184573400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:184565400-184569400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:184565400-184578200	Weak transcription	NH-A	brain
24	chr1:184565600-184568000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:184566200-184568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:184566200-184568000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:184566400-184568000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:184566400-184568000	Enhancers	Fetal Heart	heart
29	chr1:184566400-184568000	Enhancers	NHLF	lung
30	chr1:184566400-184573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:184566600-184568000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:184566600-184568000	Enhancers	Fetal Stomach	stomach
33	chr1:184566600-184568000	Enhancers	A549	lung
34	chr1:184566600-184569800	Strong transcription	Liver	Liver
35	chr1:184566600-184578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:184566800-184568200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr1:184566800-184588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:184567000-184570200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:184567000-184571200	Weak transcription	Small Intestine	intestine
40	chr1:184567000-184572400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:184567000-184573400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:184567000-184573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:184567000-184577600	Weak transcription	Right Ventricle	heart
44	chr1:184567000-184580000	Weak transcription	Fetal Kidney	kidney
45	chr1:184567000-184580400	Weak transcription	Psoas Muscle	Psoas
46	chr1:184567200-184569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:184567200-184571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:184567200-184573000	Weak transcription	Left Ventricle	heart
49	chr1:184567200-184573400	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:184567200-184580400	Weak transcription	Colonic Mucosa	Colon

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