Variant report

Variant	rs73031973
Chromosome Location	chr1:168237698-168237699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168228540..168233661-chr1:168235947..168239840,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206880	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16860424	1.00[AMR][1000 genomes]
rs34885709	1.00[AMR][1000 genomes]
rs56756222	1.00[AMR][1000 genomes]
rs61151739	0.91[AFR][1000 genomes]
rs73031924	1.00[AMR][1000 genomes]
rs73031958	0.91[AFR][1000 genomes]
rs73033959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033962	1.00[AFR][1000 genomes];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	nsv872526	chr1:168142489-168238710	Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168226200-168277400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:168226400-168242000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:168231000-168248600	Weak transcription	Fetal Kidney	kidney
4	chr1:168231200-168239800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:168231200-168248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:168231600-168241400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:168231800-168242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:168231800-168243400	Weak transcription	HSMMtube	muscle
9	chr1:168231800-168260400	Weak transcription	Aorta	Aorta
10	chr1:168232400-168262400	Weak transcription	Ovary	ovary
11	chr1:168233000-168239800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:168233800-168239600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:168234200-168240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:168234400-168238200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:168234400-168238800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:168234400-168241000	Weak transcription	Fetal Lung	lung
17	chr1:168234400-168242000	Weak transcription	Esophagus	oesophagus
18	chr1:168234400-168242800	Weak transcription	GM12878-XiMat	blood
19	chr1:168234400-168254600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:168234600-168239800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:168234600-168262200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:168234600-168266600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:168234800-168239000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:168234800-168240400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:168235000-168239200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:168235000-168240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:168235000-168277400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:168235200-168240800	Weak transcription	NHEK	skin
29	chr1:168235200-168244400	Weak transcription	Gastric	stomach
30	chr1:168235400-168240600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:168235400-168276600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:168235600-168255400	Weak transcription	Primary B cells from cord blood	blood
33	chr1:168236000-168237800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:168236200-168239000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr1:168236200-168239800	Weak transcription	Spleen	Spleen
36	chr1:168236200-168254400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:168236200-168256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:168236400-168238000	ZNF genes & repeats	Fetal Stomach	stomach
39	chr1:168236400-168238800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:168236600-168239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:168236800-168240600	Weak transcription	Liver	Liver
42	chr1:168237000-168238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:168237600-168277600	Weak transcription	Stomach Smooth Muscle	stomach

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