Variant report

Variant	rs73026324
Chromosome Location	chr1:153514376-153514377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:153514332-153514462	K562	blood:	n/a	n/a
2	POLR2A	chr1:153514200-153514436	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:153514285-153514430	K562	blood:	n/a	chr1:153514291-153514301
4	TCF12	chr1:153513700-153514685	A549	lung:	n/a	chr1:153514067-153514076
5	POLR2A	chr1:153514113-153518626	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:153513864-153516280	A549	lung:	n/a	n/a
7	PBX3	chr1:153514254-153515663	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153514376-153514426	HepG2	liver:	n/a
2	chr1:153514376-153514426	SK-N-SH_RA	brain:	n/a
3	chr1:153514376-153514426	ovcar-3	ovarian:	n/a
4	chr1:153514376-153514426	NH-A	brain:	n/a
5	chr1:153514376-153514426	A549	lung:	n/a
6	chr1:153514376-153514426	GM12891	blood:	n/a
7	chr1:153514376-153514426	HRPEpiC	eye:	n/a
8	chr1:153514376-153514426	SK-N-MC	brain:	n/a
9	chr1:153514376-153514426	ECC-1	luminal epithelium:	n/a
10	chr1:153514376-153514426	HCF	heart:	n/a
11	chr1:153514376-153514426	NHBE	bronchial:	n/a
12	chr1:153514376-153514426	BE2_C	brain:	n/a
13	chr1:153514376-153514426	AG10803	skin:	n/a
14	chr1:153514376-153514426	Hela-S3	cervix:	n/a
15	chr1:153514376-153514426	Hepatocyte	liver:	n/a
16	chr1:153514376-153514426	AG04449	skin:	fetal
17	chr1:153514376-153514426	HPAEpiC	pulmonary alveolar:	n/a
18	chr1:153514376-153514426	HEK293	kidney:	embryo
19	chr1:153514376-153514426	H1-hESC	embryonic stem cell:	embryo
20	chr1:153514376-153514426	HUVEC	blood vessel:	n/a
21	chr1:153514376-153514426	AoSMC	blood vessel:	n/a
22	chr1:153514376-153514426	HAEpiC	amniotic membrane:	n/a
23	chr1:153514376-153514426	SAEC	small airway:	n/a
24	chr1:153514376-153514426	IMR90	lung:	fetal
25	chr1:153514376-153514426	HCPEpiC	choroid plexus:	n/a
26	chr1:153514376-153514426	CMK	blood:	n/a
27	chr1:153514376-153514426	HCM	heart:	n/a
28	chr1:153514376-153514426	HRE	kidney:	n/a
29	chr1:153514376-153514426	RPTEC	kidney:	n/a
30	chr1:153514376-153514426	HEEpiC	esophagus:	n/a
31	chr1:153514376-153514426	U87	brain:	n/a
32	chr1:153514376-153514426	T-47D	breast:	n/a
33	chr1:153514376-153514426	HMEC	breast:	n/a
34	chr1:153514376-153514426	LNCaP	prostate:	n/a
35	chr1:153514376-153514426	NT2-D1	testis:	n/a
36	chr1:153514376-153514426	GM12892	blood:	n/a
37	chr1:153514376-153514426	GM19239	blood:	n/a
38	chr1:153514376-153514426	AG09319	gingival:	n/a
39	chr1:153514376-153514426	MCF-7	breast:	n/a
40	chr1:153514376-153514426	AG09309	skin:	n/a
41	chr1:153514376-153514426	GM12878	blood:	n/a
42	chr1:153514376-153514426	BJ	skin:	n/a
43	chr1:153514376-153514426	HIPEpiC	eye:	n/a
44	chr1:153514376-153514426	NHDF-neo	bronchial:	n/a
45	chr1:153514376-153514426	HCT-116	colon:	n/a
46	chr1:153514376-153514426	MCF10A-Er-Src	breast:	n/a
47	chr1:153514376-153514426	PFSK-1	brain:	n/a
48	chr1:153514376-153514426	GM06990	blood:	n/a
49	chr1:153514376-153514426	Caco-2	colon:	n/a
50	chr1:153514376-153514426	PrEC	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153512598..153514775-chr1:153963105..153964823,2	K562	blood:
2	chr1:153507264..153509795-chr1:153514317..153516048,2	K562	blood:
3	chr1:153514173..153516527-chr1:153537925..153539864,2	K562	blood:
4	chr1:153513630..153516548-chr17:59476541..59478695,2	MCF-7	breast:

No data

Variant related genes	Relation type
S100A5	TF binding region
S100A5	CpG island
ENSG00000196754	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56876140	1.00[AMR][1000 genomes]
rs59146818	1.00[AMR][1000 genomes]
rs59462422	0.95[AFR][1000 genomes]
rs61522372	0.95[AFR][1000 genomes]
rs73009905	0.81[AFR][1000 genomes]
rs73026305	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73026311	1.00[AMR][1000 genomes]
rs73026360	0.95[AFR][1000 genomes]
rs73026363	0.95[AFR][1000 genomes]
rs73026369	0.81[AFR][1000 genomes]
rs73026373	0.81[AFR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509200-153515400	Weak transcription	Aorta	Aorta
2	chr1:153509200-153515600	Weak transcription	Fetal Kidney	kidney
3	chr1:153509200-153516800	Enhancers	Fetal Thymus	thymus
4	chr1:153509200-153517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:153509400-153515000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:153509400-153515200	Enhancers	NHEK	skin
7	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
8	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
9	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
12	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
14	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:153509800-153514800	Weak transcription	Lung	lung
16	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart
17	chr1:153509800-153515800	Weak transcription	Right Ventricle	heart
18	chr1:153510600-153514800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:153511200-153514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:153511200-153515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:153511200-153516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:153511200-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:153511200-153516800	Weak transcription	Pancreas	Pancrea
24	chr1:153511400-153515200	Enhancers	Hela-S3	cervix
25	chr1:153511400-153516800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:153511400-153516800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:153511400-153517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:153511400-153517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:153511800-153514800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:153511800-153515400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:153511800-153516400	Enhancers	K562	blood
32	chr1:153512000-153515000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:153512000-153515600	Enhancers	HSMM	muscle
34	chr1:153512000-153517000	Enhancers	Dnd41	blood
35	chr1:153512200-153514400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:153512200-153515000	Enhancers	Primary B cells from peripheral blood	blood
37	chr1:153512200-153515000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:153512200-153515000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:153512200-153515000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:153512200-153515000	Enhancers	NHDF-Ad	bronchial
41	chr1:153512200-153515200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:153512200-153517200	Enhancers	Thymus	Thymus
43	chr1:153512400-153515400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr1:153512400-153515400	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:153512400-153515400	Enhancers	Adipose Nuclei	Adipose
46	chr1:153512400-153515400	Enhancers	Spleen	Spleen
47	chr1:153512400-153515600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:153512400-153515600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:153512400-153522400	Enhancers	Stomach Mucosa	stomach
50	chr1:153512600-153514400	Bivalent Enhancer	HepG2	liver

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