Variant report

Variant	rs12080867
Chromosome Location	chr1:226455796-226455797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226454792..226456296-chr1:226459782..226462357,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12069666	1.00[LWK][hapmap]
rs12137426	1.00[LWK][hapmap]
rs12758682	1.00[LWK][hapmap]

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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226456200	Weak transcription	NH-A	brain
2	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
3	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
6	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
7	chr1:226414600-226457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:226415800-226495400	Weak transcription	Liver	Liver
11	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:226416400-226457400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
14	chr1:226421800-226457400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:226425000-226456200	Weak transcription	HMEC	breast
16	chr1:226425000-226456600	Weak transcription	NHEK	skin
17	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
20	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:226447200-226456200	Weak transcription	Osteobl	bone
22	chr1:226448200-226459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:226448200-226461600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:226448200-226467200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:226448400-226459800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:226448600-226456200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:226448600-226457000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:226449000-226457400	Strong transcription	K562	blood
31	chr1:226449000-226460400	Weak transcription	Pancreas	Pancrea
32	chr1:226449200-226456000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:226449200-226457400	Strong transcription	Fetal Thymus	thymus
34	chr1:226449800-226456200	Weak transcription	HepG2	liver
35	chr1:226449800-226457000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:226449800-226457600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:226449800-226470600	Weak transcription	Brain Germinal Matrix	brain
38	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:226450000-226465600	Strong transcription	Dnd41	blood
40	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:226450400-226456200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:226450600-226463400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
44	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:226451200-226474600	Weak transcription	Primary B cells from cord blood	blood
46	chr1:226451200-226481000	Weak transcription	Fetal Brain Female	brain
47	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:226451400-226457200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:226451800-226456400	Weak transcription	A549	lung
50	chr1:226451800-226457200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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