Variant report

Variant	rs11802593
Chromosome Location	chr1:213153404-213153405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213143678..213151221-chr1:213151923..213156487,9	K562	blood:
2	chr1:213151581..213154510-chr1:213163041..213165443,2	MCF-7	breast:
3	chr1:213152474..213154016-chr1:213185907..213188065,2	K562	blood:
4	chr1:213141379..213143091-chr1:213151749..213153627,2	K562	blood:
5	chr1:213151653..213154196-chr1:213177851..213179470,2	K562	blood:

Variant related genes	Relation type
ENSG00000174606	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11808834	0.82[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11809007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11810592	0.83[MKK][hapmap];0.85[YRI][hapmap]
rs17020062	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3123306	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738804	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs41309631	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41309633	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59489266	0.91[ASN][1000 genomes]
rs59676624	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59755371	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60620122	0.91[ASN][1000 genomes]
rs61385792	0.91[ASN][1000 genomes]
rs61583935	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61832430	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61832431	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61832432	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61832433	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61832439	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7554696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
2	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
3	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain
6	chr1:213141400-213154000	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr1:213141600-213154600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:213142400-213154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:213143800-213153600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:213146400-213153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:213146600-213153600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:213146600-213157200	Genic enhancers	Fetal Muscle Leg	muscle
13	chr1:213146800-213153600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:213147000-213154600	Weak transcription	Esophagus	oesophagus
15	chr1:213148400-213154200	Weak transcription	Fetal Brain Male	brain
16	chr1:213148400-213155400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:213148400-213165400	Weak transcription	Fetal Kidney	kidney
18	chr1:213149800-213156000	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr1:213150000-213153600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:213150600-213153800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:213150800-213155400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:213151400-213154200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:213151600-213153600	Weak transcription	NH-A	brain
25	chr1:213151600-213156200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:213151800-213157000	Enhancers	HSMMtube	muscle
28	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
29	chr1:213152200-213154600	Enhancers	Right Atrium	heart
30	chr1:213152200-213155600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:213152200-213156000	Enhancers	Psoas Muscle	Psoas
32	chr1:213152400-213153600	Genic enhancers	H1 Cell Line	embryonic stem cell
33	chr1:213152400-213153600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:213152400-213154000	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:213152400-213155200	Enhancers	Right Ventricle	heart
36	chr1:213152400-213156000	Genic enhancers	Fetal Stomach	stomach
37	chr1:213152600-213153600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:213152600-213153600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:213152600-213154000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:213152600-213156200	Enhancers	Placenta	Placenta
41	chr1:213152600-213161400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:213152600-213162400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:213152800-213153600	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:213152800-213153800	Enhancers	Brain Anterior Caudate	brain
45	chr1:213152800-213156000	Enhancers	Fetal Heart	heart
46	chr1:213152800-213156200	Enhancers	HSMM	muscle
47	chr1:213153000-213153800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:213153000-213154800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:213153000-213155200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:213153000-213155600	Enhancers	Left Ventricle	heart

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