Variant report

Variant	rs12064258
Chromosome Location	chr1:93243685-93243686
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	chr1:93242184..93247777-chr1:93248755..93252044,8	K562	blood:
2	chr1:93243157..93245780-chr1:93300781..93303678,2	K562	blood:

Variant related genes	Relation type
ENSG00000206680	Chromatin interaction
ENSG00000122406	Chromatin interaction
ENSG00000251795	Chromatin interaction
ENSG00000067208	Chromatin interaction

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

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

rs_ID	r²[population]
rs11164794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164802	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059319	0.82[AFR][1000 genomes]
rs12078923	0.88[AFR][1000 genomes];1.00[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93248400	Weak transcription	Lung	lung
3	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
4	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
7	chr1:93222600-93246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:93234400-93245000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:93234400-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:93234600-93248000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:93234800-93248200	Weak transcription	Primary B cells from cord blood	blood
15	chr1:93234800-93249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:93235000-93248200	Weak transcription	NHLF	lung
17	chr1:93235200-93245600	Weak transcription	Right Ventricle	heart
18	chr1:93235200-93247200	Weak transcription	NHEK	skin
19	chr1:93235600-93248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:93236200-93247800	Weak transcription	Hela-S3	cervix
21	chr1:93237000-93246200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:93237200-93243800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:93238800-93246800	Weak transcription	Gastric	stomach
24	chr1:93239600-93249400	Weak transcription	Ovary	ovary
25	chr1:93240200-93247200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:93240200-93248400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:93240600-93249400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:93240600-93249400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:93240800-93248000	Weak transcription	K562	blood
30	chr1:93240800-93248400	Weak transcription	Pancreas	Pancrea
31	chr1:93240800-93248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:93240800-93249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:93241000-93245600	Weak transcription	HepG2	liver
34	chr1:93241000-93247200	Weak transcription	Left Ventricle	heart
35	chr1:93241000-93249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:93241000-93249400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:93241200-93244200	Weak transcription	Stomach Mucosa	stomach
38	chr1:93241200-93247800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:93241200-93248000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:93241200-93248200	Weak transcription	Brain Substantia Nigra	brain
41	chr1:93241200-93249400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:93241400-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:93241600-93248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:93242400-93248400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:93243000-93244600	Enhancers	Brain Hippocampus Middle	brain
46	chr1:93243200-93244400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:93243200-93244400	Enhancers	Colon Smooth Muscle	Colon
48	chr1:93243400-93247800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:93243400-93249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:93243600-93244200	Enhancers	Right Atrium	heart

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