Variant report

Variant	rs74148701
Chromosome Location	chr1:225971596-225971597
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225966963..225971678-chr1:225973611..225976928,7	K562	blood:
2	chr1:225963461..225967975-chr1:225968057..225975345,14	MCF-7	breast:
3	chr1:225969775..225971862-chr1:226048864..226050541,2	K562	blood:
4	chr1:225969259..225971858-chr1:225998628..226000469,2	K562	blood:
5	chr1:225948184..225950809-chr1:225971310..225972848,2	K562	blood:
6	chr1:225965000..225971731-chr1:226051573..226055609,6	K562	blood:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 10 )
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]
rs74150504	1.00[AMR][1000 genomes]
rs74150505	1.00[AMR][1000 genomes]
rs74150508	1.00[AMR][1000 genomes]
rs74150518	1.00[AMR][1000 genomes]
rs7548840	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225966200-225973400	Weak transcription	Esophagus	oesophagus
2	chr1:225966800-225972600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:225967000-225971800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:225967000-225972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:225967000-225973600	Weak transcription	HSMMtube	muscle
7	chr1:225967200-225971800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:225967200-225972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:225967200-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:225967400-225971800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:225967400-225971800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:225967600-225973600	Weak transcription	Fetal Kidney	kidney
14	chr1:225967800-225971600	Genic enhancers	Fetal Lung	lung
15	chr1:225967800-225971800	Enhancers	Brain Angular Gyrus	brain
16	chr1:225967800-225980200	Weak transcription	Stomach Mucosa	stomach
17	chr1:225968200-225971600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:225968200-225972000	Weak transcription	Left Ventricle	heart
19	chr1:225968200-225972200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:225968200-225972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:225968200-225972400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:225968200-225972600	Weak transcription	Lung	lung
23	chr1:225968200-225972600	Weak transcription	Pancreas	Pancrea
24	chr1:225968200-225972800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:225968200-225972800	Weak transcription	Gastric	stomach
26	chr1:225968200-225972800	Weak transcription	Right Ventricle	heart
27	chr1:225968200-225973600	Weak transcription	Aorta	Aorta
28	chr1:225968200-225973600	Weak transcription	Colonic Mucosa	Colon
29	chr1:225968200-225980000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:225968600-225978400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:225968800-225971600	Weak transcription	Ovary	ovary
32	chr1:225968800-225972000	Weak transcription	Thymus	Thymus
33	chr1:225968800-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:225968800-225972600	Weak transcription	Psoas Muscle	Psoas
35	chr1:225968800-225973600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:225968800-225976200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:225968800-225976800	Strong transcription	NHEK	skin
38	chr1:225969000-225977200	Strong transcription	HMEC	breast
39	chr1:225969400-225972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:225969400-225976000	Weak transcription	Small Intestine	intestine
41	chr1:225969800-225971600	Genic enhancers	Primary T cells from cord blood	blood
42	chr1:225969800-225971600	Enhancers	Fetal Brain Female	brain
43	chr1:225969800-225971800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:225969800-225976800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:225969800-225983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:225970000-225971800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:225970000-225978400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:225970200-225971800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:225970200-225971800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:225970200-225972000	Weak transcription	Fetal Stomach	stomach

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