Variant report

Variant	rs12093126
Chromosome Location	chr1:46094037-46094038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46093862-46094062	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46083627..46085575-chr1:46092823..46094633,2	K562	blood:
2	chr1:46093995..46096884-chr1:46099449..46101165,2	K562	blood:
3	chr1:46092930..46095558-chr1:46100346..46102809,2	MCF-7	breast:
4	chr1:46085998..46087880-chr1:46092475..46094068,2	K562	blood:
5	chr1:46085809..46088151-chr1:46093251..46095018,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC17	TF binding region
ENSG00000159592	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28415983	1.00[LWK][hapmap]
rs28589341	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
3	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:46070000-46108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:46071600-46105800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:46074800-46108200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:46077800-46112600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:46078200-46101200	Strong transcription	Thymus	Thymus
8	chr1:46078400-46100800	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:46078800-46101000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:46079000-46100600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:46079600-46094600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:46079800-46109800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:46083400-46095000	Weak transcription	Stomach Mucosa	stomach
14	chr1:46084400-46094800	Weak transcription	Fetal Kidney	kidney
15	chr1:46086000-46096000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:46087600-46129200	Strong transcription	Fetal Thymus	thymus
17	chr1:46088000-46094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:46088200-46095200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:46088200-46110000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:46088600-46127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:46088800-46113400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:46089000-46098600	Weak transcription	Fetal Heart	heart
23	chr1:46089000-46100600	Strong transcription	Fetal Stomach	stomach
24	chr1:46089000-46108800	Strong transcription	Osteobl	bone
25	chr1:46089000-46109400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:46089000-46109400	Strong transcription	Liver	Liver
27	chr1:46089000-46109600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:46089200-46108800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:46089200-46109800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:46089200-46110000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:46089400-46095200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:46089600-46126400	Strong transcription	Primary T cells from cord blood	blood
33	chr1:46089800-46094600	Strong transcription	Adipose Nuclei	Adipose
34	chr1:46089800-46127000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:46090000-46101200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:46090200-46109800	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:46091000-46100600	Strong transcription	Lung	lung
38	chr1:46091000-46108200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:46091000-46126400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:46091200-46098400	Strong transcription	Fetal Intestine Small	intestine
41	chr1:46091200-46100600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:46091200-46107600	Strong transcription	Fetal Intestine Large	intestine
43	chr1:46091200-46108400	Strong transcription	Placenta	Placenta
44	chr1:46091200-46108600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:46091200-46108800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:46091200-46109000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr1:46091200-46109800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:46091200-46120400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:46091200-46120800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:46091200-46127000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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