Variant report

Variant	rs72961357
Chromosome Location	chr1:93919108-93919109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93918237..93920267-chr1:94002412..94005276,2	K562	blood:
2	chr1:93914879..93917685-chr1:93917983..93919742,2	MCF-7	breast:
3	chr1:93913146..93916521-chr1:93916633..93921176,6	K562	blood:
4	chr1:93912180..93916451-chr1:93917036..93921176,6	K562	blood:
5	chr1:93918228..93920338-chr1:93923063..93925812,2	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11164950	1.00[EUR][1000 genomes]
rs1593513	0.94[ASN][1000 genomes]
rs1593514	0.94[ASN][1000 genomes]
rs1593515	0.94[ASN][1000 genomes]
rs1863500	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236327	1.00[EUR][1000 genomes]
rs236328	1.00[EUR][1000 genomes]
rs236334	1.00[EUR][1000 genomes]
rs237424	1.00[EUR][1000 genomes]
rs237426	1.00[EUR][1000 genomes]
rs237427	1.00[EUR][1000 genomes]
rs237428	1.00[EUR][1000 genomes]
rs237429	1.00[EUR][1000 genomes]
rs237430	1.00[EUR][1000 genomes]
rs2449377	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2493642	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2554841	0.88[ASN][1000 genomes]
rs2624438	0.88[ASN][1000 genomes]
rs2818968	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4475764	0.94[ASN][1000 genomes]
rs57438388	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57440609	0.94[ASN][1000 genomes]
rs57453256	0.94[ASN][1000 genomes]
rs57974365	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58212333	1.00[ASN][1000 genomes]
rs58430978	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58591926	0.94[ASN][1000 genomes]
rs59039419	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60515224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60717381	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61096581	0.82[ASN][1000 genomes]
rs61231069	0.82[ASN][1000 genomes]
rs6657187	0.94[ASN][1000 genomes]
rs72961366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961373	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961379	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961386	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961389	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7547495	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:93915200-93919400	Weak transcription	Stomach Mucosa	stomach
3	chr1:93915200-93922000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:93915200-93922200	Weak transcription	Gastric	stomach
5	chr1:93915200-93923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:93915200-93926800	Weak transcription	Pancreas	Pancrea
7	chr1:93915200-93927800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:93915200-93928600	Weak transcription	Ovary	ovary
9	chr1:93915200-93929600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:93915200-93929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
13	chr1:93915200-93937000	Weak transcription	Lung	lung
14	chr1:93915400-93919200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:93915400-93919400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:93915400-93919400	Weak transcription	NH-A	brain
17	chr1:93915400-93919600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:93915400-93919600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:93915400-93919600	Weak transcription	Right Ventricle	heart
20	chr1:93915400-93920800	Weak transcription	Right Atrium	heart
21	chr1:93915400-93922400	Weak transcription	Fetal Stomach	stomach
22	chr1:93915400-93924600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:93915400-93926600	Weak transcription	Liver	Liver
24	chr1:93915400-93926800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:93915400-93926800	Weak transcription	Psoas Muscle	Psoas
26	chr1:93915400-93929800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:93915400-93931000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:93916000-93919400	Enhancers	HUVEC	blood vessel
29	chr1:93916000-93922400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:93916400-93923800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:93916400-93924600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:93916400-93926600	Weak transcription	Primary B cells from cord blood	blood
33	chr1:93916400-93934800	Weak transcription	Fetal Intestine Large	intestine
34	chr1:93916600-93923800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:93916600-93925600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:93916600-93926000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:93916800-93919200	Weak transcription	Hela-S3	cervix
38	chr1:93916800-93919600	Weak transcription	HSMM	muscle
39	chr1:93916800-93919800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:93916800-93920000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:93916800-93920400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:93916800-93920800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:93916800-93921000	Weak transcription	Fetal Brain Female	brain
44	chr1:93916800-93922200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:93916800-93922600	Weak transcription	Fetal Lung	lung
46	chr1:93916800-93925600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:93916800-93929400	Weak transcription	Brain Germinal Matrix	brain
48	chr1:93916800-93930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:93916800-93932800	Weak transcription	Fetal Kidney	kidney
50	chr1:93917400-93922000	Weak transcription	Fetal Intestine Small	intestine

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