Variant report

Variant	rs72952103
Chromosome Location	chr2:113500757-113500758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:
2	chr2:113499878..113502377-chr2:113510716..113513053,2	K562	blood:
3	chr2:113498551..113500379-chr2:113500428..113502651,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17040306	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55900444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56152754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60255523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542099	1.00[AMR][1000 genomes]
rs6744790	1.00[AMR][1000 genomes]
rs72952128	0.90[AFR][1000 genomes]
rs73955242	1.00[AMR][1000 genomes]
rs7597191	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
3	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
6	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
8	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
9	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
12	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:113494600-113502400	Strong transcription	Fetal Stomach	stomach
16	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:113494800-113505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:113494800-113506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:113494800-113506200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:113494800-113507000	Strong transcription	Dnd41	blood
21	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:113495200-113504200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:113495600-113502400	Strong transcription	Thymus	Thymus
24	chr2:113495800-113502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:113495800-113503600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:113495800-113504200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:113495800-113505400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:113495800-113505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:113495800-113505600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
31	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:113496200-113502800	Strong transcription	NHDF-Ad	bronchial
34	chr2:113496200-113507400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:113496200-113508800	Strong transcription	A549	lung
36	chr2:113496400-113502400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:113496800-113503800	Strong transcription	HUVEC	blood vessel
38	chr2:113496800-113509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:113498000-113507400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:113498600-113507600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
43	chr2:113499000-113502400	Strong transcription	Fetal Intestine Large	intestine
44	chr2:113499000-113507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:113499000-113511400	Weak transcription	Gastric	stomach
47	chr2:113499200-113501800	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:113499200-113502000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:113499200-113504600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:113499200-113505600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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