Variant report

Variant	rs1810765
Chromosome Location	chr1:153515120-153515121
allele	C/T
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	chr1:153514448-153518753	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:153514605-153516221	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:153514648-153515564	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:153514990-153515221	A549	lung:	n/a	n/a
5	TCF12	chr1:153515103-153516025	A549	lung:	n/a	n/a
6	POLR2A	chr1:153514714-153515843	HCT-116	colon:	n/a	n/a
7	POLR2A	chr1:153514113-153518626	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr1:153515030-153515212	A549	lung:	n/a	n/a
9	JUND	chr1:153514599-153515264	A549	lung:	n/a	chr1:153514998-153515008 chr1:153514999-153515007 chr1:153515141-153515152 chr1:153514998-153515008 chr1:153514998-153515008 chr1:153515141-153515151 chr1:153515141-153515151 chr1:153515142-153515150 chr1:153514998-153515008
10	POLR2A	chr1:153514756-153515220	A549	lung:	n/a	n/a
11	POLR2A	chr1:153514587-153515773	ProgFib	skin:	n/a	n/a
12	POLR2A	chr1:153513864-153516280	A549	lung:	n/a	n/a
13	POLR2A	chr1:153514431-153515205	A549	lung:	n/a	n/a
14	USF2	chr1:153514976-153515494	Hela-S3	cervix:	n/a	n/a
15	PBX3	chr1:153514254-153515663	A549	lung:	n/a	n/a
16	POLR2A	chr1:153514812-153516091	Hela-S3	cervix:	n/a	n/a
17	PBX3	chr1:153514621-153515529	A549	lung:	n/a	n/a
18	POLR2A	chr1:153515023-153515802	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153514799..153517187-chr1:153642186..153644842,2	MCF-7	breast:
2	chr1:153507264..153509795-chr1:153514317..153516048,2	K562	blood:
3	chr1:153514692..153517082-chr1:153605363..153608061,2	MCF-7	breast:
4	chr1:153514173..153516527-chr1:153537925..153539864,2	K562	blood:
5	chr1:153513630..153516548-chr17:59476541..59478695,2	MCF-7	breast:

Variant related genes	Relation type
S100A5	TF binding region
ENSG00000160679	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000272030	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1047325	0.89[CEU][hapmap]
rs1050923	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs11488669	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16835437	0.89[CEU][hapmap]
rs16835455	0.89[CEU][hapmap]
rs2480695	1.00[JPT][hapmap]
rs28452456	0.82[EUR][1000 genomes]
rs28483109	1.00[JPT][hapmap]
rs28548347	0.82[EUR][1000 genomes]
rs28594230	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28718953	0.82[EUR][1000 genomes]
rs36022742	0.82[EUR][1000 genomes]
rs3762268	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4017737	1.00[JPT][hapmap]
rs41265162	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41265164	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4595398	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs477339	1.00[JPT][hapmap];0.93[YRI][hapmap]
rs532652	1.00[JPT][hapmap]
rs550597	1.00[JPT][hapmap]
rs55955983	0.82[EUR][1000 genomes]
rs56043239	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56089062	0.82[EUR][1000 genomes]
rs56350425	0.82[EUR][1000 genomes]
rs56838169	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57024596	0.82[EUR][1000 genomes]
rs58072118	0.82[EUR][1000 genomes]
rs585215	1.00[JPT][hapmap]
rs59376279	0.82[EUR][1000 genomes]
rs60218214	0.82[EUR][1000 genomes]
rs60969679	0.84[AMR][1000 genomes]
rs61265945	0.82[EUR][1000 genomes]
rs6427301	0.82[EUR][1000 genomes]
rs659403	1.00[JPT][hapmap]
rs73026350	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs743687	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535476	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8401	0.89[CEU][hapmap]
rs9427239	1.00[JPT][hapmap];0.85[YRI][hapmap]

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:101 , 50 per page) page: 1 2 3

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	chr1:153509400-153515200	Enhancers	NHEK	skin
6	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
7	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
8	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
11	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
13	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart
15	chr1:153509800-153515800	Weak transcription	Right Ventricle	heart
16	chr1:153511200-153516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:153511200-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:153511200-153516800	Weak transcription	Pancreas	Pancrea
19	chr1:153511400-153515200	Enhancers	Hela-S3	cervix
20	chr1:153511400-153516800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:153511400-153516800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:153511400-153517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:153511400-153517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:153511800-153515400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:153511800-153516400	Enhancers	K562	blood
26	chr1:153512000-153515600	Enhancers	HSMM	muscle
27	chr1:153512000-153517000	Enhancers	Dnd41	blood
28	chr1:153512200-153515200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:153512200-153517200	Enhancers	Thymus	Thymus
30	chr1:153512400-153515400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:153512400-153515400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:153512400-153515400	Enhancers	Adipose Nuclei	Adipose
33	chr1:153512400-153515400	Enhancers	Spleen	Spleen
34	chr1:153512400-153515600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:153512400-153515600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:153512400-153522400	Enhancers	Stomach Mucosa	stomach
37	chr1:153512600-153515200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:153512600-153515600	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:153512600-153515800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:153512800-153516800	Enhancers	Esophagus	oesophagus
41	chr1:153512800-153517000	Enhancers	Placenta	Placenta
42	chr1:153513400-153515400	Weak transcription	Osteobl	bone
43	chr1:153513400-153516800	Weak transcription	Fetal Intestine Large	intestine
44	chr1:153513400-153516800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:153513600-153515200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:153513600-153515400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:153513600-153516400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:153513800-153515200	Enhancers	Primary T cells from cord blood	blood
49	chr1:153513800-153515400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:153513800-153515400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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