Variant report

Variant	rs2405305
Chromosome Location	chr1:224367232-224367233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224365921..224368193-chr1:224369712..224372520,2	MCF-7	breast:
2	chr1:224301888..224304582-chr1:224366795..224368300,2	MCF-7	breast:
3	chr1:224365629..224367265-chr1:224369608..224372554,2	K562	blood:
4	chr1:224364638..224368268-chr1:224368914..224372684,7	K562	blood:

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10916581	1.00[LWK][hapmap]
rs6682420	1.00[YRI][hapmap]
rs6682432	0.82[YRI][hapmap]
rs7514645	1.00[ASW][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap]

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	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv8857	chr1:224359943-224383023	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224346400-224370000	Weak transcription	Esophagus	oesophagus
2	chr1:224359000-224369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:224359000-224369200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:224359000-224370200	Weak transcription	Small Intestine	intestine
5	chr1:224362800-224369600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:224363400-224369600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:224363400-224370000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:224363600-224370000	Weak transcription	HMEC	breast
9	chr1:224363800-224368000	Weak transcription	Fetal Thymus	thymus
10	chr1:224363800-224368400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:224363800-224368600	Weak transcription	NHEK	skin
12	chr1:224363800-224368800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:224363800-224369000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:224363800-224369600	Weak transcription	Thymus	Thymus
15	chr1:224363800-224369800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224363800-224369800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:224363800-224369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:224363800-224369800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:224363800-224369800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:224363800-224370000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:224363800-224370000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:224363800-224370000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:224363800-224370200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:224363800-224370200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:224363800-224370200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:224363800-224370200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:224363800-224370200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:224363800-224370400	Weak transcription	Lung	lung
29	chr1:224364000-224368800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:224364600-224369200	Weak transcription	Placenta	Placenta
31	chr1:224365800-224368600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:224365800-224368600	Weak transcription	HepG2	liver
33	chr1:224366400-224370000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:224366400-224370000	Weak transcription	Osteobl	bone
35	chr1:224367200-224367400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:224367200-224367400	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:224367200-224367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:224367200-224370000	Weak transcription	NH-A	brain

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