Variant report

Variant	rs56790408
Chromosome Location	chr11:66394545-66394546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66251579..66253511-chr11:66393274..66395522,2	K562	blood:
2	chr11:66394016..66396545-chr11:66423374..66426057,2	MCF-7	breast:
3	chr11:66313080..66314944-chr11:66394441..66396962,2	K562	blood:
4	chr11:66393390..66395296-chr11:66443186..66444916,3	K562	blood:
5	chr11:66356872..66361131-chr11:66390799..66394661,4	K562	blood:
6	chr11:66393029..66395178-chr11:66443176..66444905,2	K562	blood:

Variant related genes	Relation type
ENSG00000182791	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000174165	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11227491	1.00[AMR][1000 genomes]
rs11538048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17849480	1.00[AMR][1000 genomes]
rs55955243	1.00[AMR][1000 genomes]
rs55962689	1.00[AMR][1000 genomes]
rs56146874	1.00[AMR][1000 genomes]
rs56177555	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56291132	1.00[AMR][1000 genomes]
rs56380786	1.00[AMR][1000 genomes]
rs56705397	1.00[AMR][1000 genomes]
rs57113976	1.00[AMR][1000 genomes]
rs57412357	1.00[AMR][1000 genomes]
rs58447882	1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	1.00[AMR][1000 genomes]
rs59057733	1.00[AMR][1000 genomes]
rs59213528	1.00[AMR][1000 genomes]
rs59792175	1.00[AMR][1000 genomes]
rs59868470	1.00[AMR][1000 genomes]
rs61043169	0.86[AFR][1000 genomes]
rs61675228	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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66386200-66398400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:66387000-66403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:66387600-66397000	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr11:66387600-66401800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:66388400-66398000	Strong transcription	NHEK	skin
8	chr11:66388600-66398200	Strong transcription	Primary hematopoietic stem cells	blood
9	chr11:66388600-66398400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:66388600-66402400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:66388800-66398000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:66388800-66398000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:66388800-66398400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:66388800-66399800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:66388800-66401200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:66388800-66402400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:66388800-66402400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:66388800-66402400	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:66388800-66402800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:66388800-66403800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:66388800-66404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:66388800-66404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:66389000-66404400	Strong transcription	Fetal Thymus	thymus
24	chr11:66389200-66398600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:66389200-66402400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:66389200-66402800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:66389800-66395200	Genic enhancers	Adipose Nuclei	Adipose
28	chr11:66389800-66398400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:66389800-66401200	Strong transcription	Thymus	Thymus
30	chr11:66390000-66398000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:66390200-66397800	Strong transcription	NHDF-Ad	bronchial
32	chr11:66390200-66398200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr11:66390200-66398400	Strong transcription	Fetal Brain Female	brain
34	chr11:66390200-66401200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:66390400-66397800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:66390400-66398000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:66390400-66398000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:66390400-66398200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:66390400-66398400	Strong transcription	Brain Germinal Matrix	brain
40	chr11:66390600-66396200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:66390600-66397800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:66390600-66398000	Strong transcription	HMEC	breast
43	chr11:66390600-66402600	Strong transcription	K562	blood
44	chr11:66390600-66404800	Strong transcription	Fetal Intestine Small	intestine
45	chr11:66390800-66397000	Strong transcription	Esophagus	oesophagus
46	chr11:66390800-66397600	Strong transcription	Fetal Lung	lung
47	chr11:66390800-66397800	Strong transcription	NHLF	lung
48	chr11:66390800-66398400	Strong transcription	HUVEC	blood vessel
49	chr11:66390800-66402200	Strong transcription	Hela-S3	cervix
50	chr11:66390800-66402600	Strong transcription	A549	lung

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