Variant report

Variant	rs74149423
Chromosome Location	chr1:225151898-225151899
allele	A/G
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	chr1:225151770-225151909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225125254..225128428-chr1:225150698..225154229,3	K562	blood:
2	chr1:225146634..225148217-chr1:225149675..225151960,2	K562	blood:

Variant related genes	Relation type
DNAH14	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12081290	1.00[AMR][1000 genomes]
rs12096538	1.00[AMR][1000 genomes]
rs58934881	1.00[AMR][1000 genomes]
rs6673505	1.00[AMR][1000 genomes]
rs74146613	1.00[AMR][1000 genomes]
rs74147128	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1804634	chr1:225137134-225206826	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225133600-225156200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:225138200-225152800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:225138600-225155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:225138800-225163800	Weak transcription	Hela-S3	cervix
5	chr1:225140000-225158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:225141400-225158800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:225141400-225162600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:225141600-225159000	Weak transcription	Ovary	ovary
9	chr1:225141800-225159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:225141800-225160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:225142800-225158400	Weak transcription	NH-A	brain
12	chr1:225142800-225162200	Weak transcription	Fetal Kidney	kidney
13	chr1:225142800-225164400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:225143400-225161800	Weak transcription	A549	lung
15	chr1:225145200-225160600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:225145600-225152200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:225145600-225158800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:225147000-225157200	Strong transcription	K562	blood
19	chr1:225147400-225157800	Weak transcription	HepG2	liver
20	chr1:225148200-225156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:225148400-225154400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:225148400-225158200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:225148800-225158000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:225149400-225153000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:225150000-225156000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:225150400-225152400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:225150400-225152400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:225150400-225152600	Weak transcription	Liver	Liver
29	chr1:225150400-225157200	Weak transcription	Pancreas	Pancrea
30	chr1:225150400-225157600	Weak transcription	Fetal Intestine Large	intestine
31	chr1:225150400-225160600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:225150400-225167200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:225150400-225171200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:225151600-225155200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:225151600-225157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:225151800-225152600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:225151800-225153400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:225151800-225154200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:225151800-225154200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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