Variant report

Variant	rs12048585
Chromosome Location	chr1:67386254-67386255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:67386013-67386291	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:67374136..67376779-chr1:67384902..67386423,2	K562	blood:
2	chr1:67385327..67388250-chr1:67504419..67506337,2	MCF-7	breast:
3	chr1:67385997..67392679-chr1:67394416..67400305,9	MCF-7	breast:
4	chr1:67385809..67388238-chr1:67388654..67390836,2	MCF-7	breast:

Variant related genes	Relation type
MIER1	TF binding region
ENSG00000152763	Chromatin interaction
ENSG00000198160	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12036898	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3448405	chr1:67360980-67393830	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67348400-67389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:67349400-67389600	Weak transcription	Aorta	Aorta
3	chr1:67359400-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:67364000-67389000	Weak transcription	Osteobl	bone
5	chr1:67364800-67388800	Weak transcription	NHDF-Ad	bronchial
6	chr1:67366600-67389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:67377200-67389200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:67379200-67388600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:67380000-67388800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:67380400-67387600	Weak transcription	HepG2	liver
11	chr1:67382200-67388800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:67382200-67389000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:67382200-67389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:67382400-67389200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:67382600-67388800	Weak transcription	Brain Anterior Caudate	brain
16	chr1:67383000-67389000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:67383200-67388000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:67383200-67388800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:67383400-67387600	Weak transcription	K562	blood
20	chr1:67383400-67388800	Weak transcription	Fetal Brain Male	brain
21	chr1:67383400-67389200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:67383600-67387800	Weak transcription	Primary T cells from cord blood	blood
23	chr1:67383800-67388200	Weak transcription	Fetal Heart	heart
24	chr1:67383800-67389000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:67384000-67389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:67384200-67386400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:67384400-67388800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:67384400-67389200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:67384400-67389600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:67384600-67388600	Weak transcription	Brain Angular Gyrus	brain
31	chr1:67384600-67388800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:67384600-67389000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:67384800-67389000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:67384800-67389200	Weak transcription	Placenta	Placenta
35	chr1:67385000-67386600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:67385000-67387600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:67385000-67388800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:67385200-67386400	Strong transcription	Brain Germinal Matrix	brain
39	chr1:67385200-67386400	Enhancers	Colonic Mucosa	Colon
40	chr1:67385200-67388000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:67385200-67389200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:67385200-67389400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:67385400-67386400	ZNF genes & repeats	Dnd41	blood
44	chr1:67385400-67388800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:67385400-67388800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:67385600-67386400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:67385600-67386400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:67385600-67386400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:67385600-67386400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr1:67385600-67386400	Strong transcription	Ovary	ovary

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