Variant report

Variant	rs73026311
Chromosome Location	chr1:153513046-153513047
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	CTCF	chr1:153512960-153513110	GM12873	blood:	n/a	chr1:153512979-153512988
2	ZC3H11A	chr1:153513025-153513061	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153504209..153505838-chr1:153511280..153513163,2	K562	blood:
2	chr1:153512598..153514775-chr1:153963105..153964823,2	K562	blood:
3	chr1:153511330..153514182-chr1:153601360..153604176,2	K562	blood:
4	chr1:153511083..153513930-chr1:153515986..153517623,2	K562	blood:

Variant related genes	Relation type
S100A6	TF binding region
ENSG00000196154	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000189171	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56876140	1.00[AMR][1000 genomes]
rs59146818	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73026305	1.00[AMR][1000 genomes]
rs73026324	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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509200-153514000	Enhancers	HMEC	breast
2	chr1:153509200-153515400	Weak transcription	Aorta	Aorta
3	chr1:153509200-153515600	Weak transcription	Fetal Kidney	kidney
4	chr1:153509200-153516800	Enhancers	Fetal Thymus	thymus
5	chr1:153509200-153517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:153509400-153513200	Weak transcription	Gastric	stomach
7	chr1:153509400-153515000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:153509400-153515200	Enhancers	NHEK	skin
9	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
10	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
11	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
14	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
16	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:153509800-153514800	Weak transcription	Lung	lung
18	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart
19	chr1:153509800-153515800	Weak transcription	Right Ventricle	heart
20	chr1:153510000-153513600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:153510600-153514800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:153511200-153513400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:153511200-153514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:153511200-153514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:153511200-153515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:153511200-153516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:153511200-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:153511200-153516800	Weak transcription	Pancreas	Pancrea
29	chr1:153511400-153515200	Enhancers	Hela-S3	cervix
30	chr1:153511400-153516800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:153511400-153516800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:153511400-153517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:153511400-153517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:153511800-153513800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:153511800-153514800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:153511800-153515400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:153511800-153516400	Enhancers	K562	blood
38	chr1:153512000-153513200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:153512000-153513400	Enhancers	Primary T cells from cord blood	blood
40	chr1:153512000-153513400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:153512000-153513600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:153512000-153514000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:153512000-153515000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr1:153512000-153515600	Enhancers	HSMM	muscle
45	chr1:153512000-153517000	Enhancers	Dnd41	blood
46	chr1:153512200-153513200	Enhancers	Primary B cells from cord blood	blood
47	chr1:153512200-153513800	Enhancers	NH-A	brain
48	chr1:153512200-153513800	Enhancers	NHLF	lung
49	chr1:153512200-153514000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:153512200-153514000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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