Variant report

Variant	rs12076480
Chromosome Location	chr1:227084510-227084511
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	chr1:227076139..227079788-chr1:227081535..227086284,4	K562	blood:

Variant related genes	Relation type
ENSG00000143801	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6680042	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7530352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537037	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7539221	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227059800-227095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:227069400-227085000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:227069400-227087800	Weak transcription	HMEC	breast
4	chr1:227069400-227102800	Weak transcription	K562	blood
5	chr1:227070800-227088200	Weak transcription	Fetal Brain Male	brain
6	chr1:227071000-227089000	Strong transcription	Stomach Smooth Muscle	stomach
7	chr1:227071200-227086800	Weak transcription	NHDF-Ad	bronchial
8	chr1:227071200-227088400	Weak transcription	Hela-S3	cervix
9	chr1:227071200-227091400	Weak transcription	Osteobl	bone
10	chr1:227071600-227087000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:227071800-227102400	Weak transcription	Small Intestine	intestine
12	chr1:227072200-227087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:227072200-227091800	Weak transcription	Fetal Kidney	kidney
14	chr1:227072200-227100400	Weak transcription	Stomach Mucosa	stomach
15	chr1:227073000-227085200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:227073400-227084600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:227073400-227088600	Strong transcription	Fetal Stomach	stomach
18	chr1:227073400-227092200	Strong transcription	Pancreas	Pancrea
19	chr1:227073800-227100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:227074200-227091800	Weak transcription	Fetal Heart	heart
21	chr1:227074800-227090000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:227074800-227090200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:227075000-227085400	Strong transcription	Ovary	ovary
24	chr1:227075000-227087400	Weak transcription	Primary B cells from cord blood	blood
25	chr1:227075000-227088800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:227075200-227087000	Weak transcription	GM12878-XiMat	blood
27	chr1:227075200-227091800	Weak transcription	Right Atrium	heart
28	chr1:227075400-227085000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:227075400-227088800	Strong transcription	Liver	Liver
30	chr1:227075600-227088200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr1:227075800-227084600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:227076600-227087400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:227077800-227085400	Strong transcription	Rectal Smooth Muscle	rectum
34	chr1:227078000-227084800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr1:227078600-227091600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:227079000-227087200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:227079400-227084600	Strong transcription	Brain Hippocampus Middle	brain
38	chr1:227079800-227097200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:227080000-227094800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:227080200-227084800	Strong transcription	Spleen	Spleen
41	chr1:227080200-227087200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:227080200-227090600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:227080400-227084600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:227080400-227085200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:227080400-227087400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:227080400-227088200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:227080400-227090000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:227080600-227087400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:227080600-227088400	Strong transcription	Left Ventricle	heart
50	chr1:227080600-227088800	Strong transcription	Adipose Nuclei	Adipose

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