Variant report

Variant	rs10206303
Chromosome Location	chr2:113495445-113495446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113484570..113488496-chr2:113489411..113495681,5	K562	blood:
2	chr2:113491290..113493368-chr2:113494411..113496403,2	MCF-7	breast:
3	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:
4	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:
5	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10176689	1.00[AMR][1000 genomes]
rs10183049	1.00[AMR][1000 genomes]
rs10190942	1.00[AMR][1000 genomes]
rs1143641	1.00[AMR][1000 genomes]
rs13424846	1.00[AMR][1000 genomes]
rs7591401	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	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
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
4	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
6	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
9	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
11	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:113486400-113495800	Weak transcription	HUVEC	blood vessel
13	chr2:113486600-113496200	Weak transcription	Placenta	Placenta
14	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:113487600-113496000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:113488200-113495800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:113488200-113495800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
21	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:113491400-113495600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
24	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
25	chr2:113492000-113497600	Weak transcription	K562	blood
26	chr2:113492200-113495800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
29	chr2:113492400-113497400	Weak transcription	NHLF	lung
30	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:113492400-113498000	Weak transcription	Fetal Lung	lung
33	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:113493000-113495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:113494000-113496000	Enhancers	Osteobl	bone
36	chr2:113494000-113496800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:113494200-113495800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
40	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:113494400-113495600	Enhancers	Hela-S3	cervix
42	chr2:113494400-113496200	Enhancers	Stomach Mucosa	stomach
43	chr2:113494400-113496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:113494400-113498000	Strong transcription	NHEK	skin
45	chr2:113494400-113500000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:113494600-113496200	Genic enhancers	A549	lung
49	chr2:113494600-113498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:113494600-113502400	Strong transcription	Fetal Stomach	stomach

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