Variant report

Variant	rs6578665
Chromosome Location	chr11:5622301-5622302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5622280-5622430	HRE	kidney:	n/a	n/a
2	CTCF	chr11:5621180-5622653	A549	lung:	n/a	chr11:5621674-5621692 chr11:5621675-5621691 chr11:5621679-5621687 chr11:5621676-5621697

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5619995-5622488..11:5700314-5707362	GM12878	blood:
2	11:5469844-5475173..11:5619995-5622488	H1-hESC	embryonic stem cell:	embryo
3	11:5619995-5622488..11:5707362-5712027	GM12878	blood:
4	chr11:5267593..5269501-chr11:5620817..5623766,2	K562	blood:
5	11:5619995-5622488..11:5721056-5732713	GM12878	blood:
6	chr11:5622216..5624824-chr11:5624947..5627411,3	K562	blood:
7	11:5527719-5533869..11:5619995-5622488	K562	blood:
8	11:5619995-5622488..11:5714465-5718134	GM12878	blood:

Variant related genes	Relation type
TRIM6	TF binding region
ENSG00000132274	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000175520	Chromatin interaction
ENSG00000121236	Chromatin interaction
ENSG00000187918	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10838406	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11822879	0.88[CHB][hapmap]
rs7121553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73400343	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv896944	chr11:5588174-5625603	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv896945	chr11:5598864-5625603	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
11	nsv896946	chr11:5619008-5639873	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6578665	UBQLNL	cis	lymphoblastoid	seeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5618200-5624400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:5618400-5623800	Weak transcription	Placenta	Placenta
3	chr11:5618400-5640400	Weak transcription	Fetal Intestine Small	intestine
4	chr11:5618400-5642200	Weak transcription	Left Ventricle	heart
5	chr11:5618600-5640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:5618600-5645200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:5619000-5623600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:5619000-5627600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:5619000-5629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:5619000-5631400	Weak transcription	Fetal Intestine Large	intestine
11	chr11:5619000-5631800	Weak transcription	GM12878-XiMat	blood
12	chr11:5619200-5625800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:5619400-5626200	Weak transcription	Fetal Stomach	stomach
14	chr11:5619600-5622400	Enhancers	Colon Smooth Muscle	Colon
15	chr11:5619600-5623000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:5619600-5624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:5619600-5624600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:5619600-5626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:5619600-5627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:5619600-5627200	Weak transcription	NHDF-Ad	bronchial
21	chr11:5619600-5631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:5619600-5636000	Weak transcription	Aorta	Aorta
23	chr11:5619600-5641600	Weak transcription	Lung	lung
24	chr11:5619600-5642000	Weak transcription	Ovary	ovary
25	chr11:5619600-5645600	Weak transcription	Esophagus	oesophagus
26	chr11:5619800-5624600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:5620000-5624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:5620000-5625200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:5620200-5631400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:5620400-5624200	Weak transcription	Adipose Nuclei	Adipose
31	chr11:5620400-5624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:5620400-5626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:5621200-5624400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:5621400-5622400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:5621400-5622400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:5621400-5622600	Enhancers	Rectal Smooth Muscle	rectum
37	chr11:5621600-5634000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:5621800-5622400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:5621800-5622400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:5621800-5622400	Enhancers	Fetal Heart	heart
41	chr11:5621800-5622400	Enhancers	NHLF	lung
42	chr11:5621800-5622400	Enhancers	Osteobl	bone
43	chr11:5621800-5622600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:5621800-5622600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:5621800-5622600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:5621800-5622600	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:5622000-5624600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:5622000-5625600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:5622000-5633400	Weak transcription	Fetal Kidney	kidney
50	chr11:5622200-5622400	Genic enhancers	A549	lung

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