Variant report

Variant	rs74150504
Chromosome Location	chr1:225981391-225981392
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225667880..225669928-chr1:225980112..225982880,2	K562	blood:
2	chr1:225972838..225977175-chr1:225978955..225982654,5	K562	blood:
3	chr1:225964922..225971483-chr1:225977225..225981439,8	K562	blood:

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16845286	1.00[AMR][1000 genomes]
rs6703444	1.00[AMR][1000 genomes]
rs74148701	1.00[AMR][1000 genomes]
rs74150505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74150508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74150518	1.00[AMR][1000 genomes]
rs7548840	1.00[AMR][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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225969800-225983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:225970200-225983200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:225970600-225981800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:225970800-225982200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:225971600-225982800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:225973600-225983400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:225973800-225986000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:225974600-225985600	Weak transcription	Fetal Heart	heart
9	chr1:225975000-225997200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:225975000-225997400	Weak transcription	Aorta	Aorta
11	chr1:225975400-225981800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:225975400-225983800	Weak transcription	Pancreas	Pancrea
13	chr1:225975600-225981600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:225975600-225983400	Weak transcription	NHLF	lung
15	chr1:225976000-225984000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:225976200-225984400	Weak transcription	HepG2	liver
17	chr1:225976200-225989000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:225976400-225982400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:225978200-225982200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:225978200-225983000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:225978400-225982600	Strong transcription	Primary T cells from cord blood	blood
22	chr1:225978400-225983200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:225978400-225983400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr1:225978400-225984400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:225978600-225988200	Weak transcription	NHDF-Ad	bronchial
26	chr1:225978800-225981400	Weak transcription	Hela-S3	cervix
27	chr1:225978800-225984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:225978800-225985600	Weak transcription	HMEC	breast
29	chr1:225978800-225989800	Weak transcription	HSMMtube	muscle
30	chr1:225978800-225997200	Weak transcription	K562	blood
31	chr1:225979000-225981400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:225979000-225985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:225979000-225986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:225979000-225987400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:225979000-225993200	Weak transcription	HUVEC	blood vessel
36	chr1:225979200-225981800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:225979200-225984200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:225979200-225997200	Weak transcription	Right Ventricle	heart
39	chr1:225979400-225981600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:225979600-225981600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:225979600-225981600	Weak transcription	GM12878-XiMat	blood
42	chr1:225979600-225982400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:225979600-225983200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:225979600-225983600	Weak transcription	NHEK	skin
45	chr1:225979600-225984200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:225979600-225985400	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:225979600-225987600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:225979600-225997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:225979600-225997400	Weak transcription	Lung	lung
50	chr1:225979600-225997800	Weak transcription	Gastric	stomach

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