Variant report

Variant	rs587397
Chromosome Location	chr11:68167423-68167424
allele	C/G
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	MXI1	chr11:68166370-68167660	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:68161295..68163947-chr11:68166946..68168882,2	MCF-7	breast:
2	chr11:68150498..68154117-chr11:68165017..68167539,3	MCF-7	breast:
3	chr11:68165701..68168619-chr11:68192290..68194513,2	K562	blood:
4	chr11:68166255..68169043-chr11:68169420..68171450,2	K562	blood:

Variant related genes	Relation type
LRP5	TF binding region
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11606439	1.00[ASN][1000 genomes]
rs1210421	0.86[EUR][1000 genomes]
rs1784235	0.88[YRI][hapmap]
rs1893003	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893209	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458262	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2472415	0.86[YRI][hapmap]
rs3736231	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546803	0.96[YRI][hapmap]
rs576118	0.86[YRI][hapmap]
rs583545	0.87[YRI][hapmap]
rs594090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628433	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640569	0.88[YRI][hapmap]
rs67742204	0.82[ASN][1000 genomes]
rs678263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:68149200-68174000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:68149600-68180400	Weak transcription	NHLF	lung
6	chr11:68157000-68171000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:68157200-68174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:68157200-68196600	Weak transcription	NH-A	brain
9	chr11:68157400-68170800	Weak transcription	HMEC	breast
10	chr11:68157600-68171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:68157600-68180400	Weak transcription	Osteobl	bone
12	chr11:68157800-68169600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:68157800-68169600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:68158000-68170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:68158000-68173600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:68158200-68169800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:68158600-68170800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:68159200-68177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:68159400-68169000	Weak transcription	NHEK	skin
20	chr11:68159400-68171000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:68159600-68169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:68159600-68170800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:68160400-68171000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:68160400-68171200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:68162000-68169800	Weak transcription	Hela-S3	cervix
26	chr11:68163200-68168800	Weak transcription	Dnd41	blood
27	chr11:68163400-68170000	Enhancers	Fetal Heart	heart
28	chr11:68163800-68167800	Enhancers	Ovary	ovary
29	chr11:68163800-68169200	Genic enhancers	Fetal Stomach	stomach
30	chr11:68163800-68169600	Weak transcription	Primary T cells from cord blood	blood
31	chr11:68164600-68167800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:68164600-68169000	Enhancers	Left Ventricle	heart
33	chr11:68164600-68169400	Enhancers	Right Atrium	heart
34	chr11:68164600-68169400	Weak transcription	Thymus	Thymus
35	chr11:68164800-68171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:68165000-68167800	Enhancers	Adipose Nuclei	Adipose
37	chr11:68165000-68167800	Enhancers	Fetal Lung	lung
38	chr11:68165000-68167800	Enhancers	Fetal Muscle Leg	muscle
39	chr11:68165200-68167600	Enhancers	Placenta	Placenta
40	chr11:68165200-68169000	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:68165200-68169200	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:68165200-68169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:68165400-68167800	Enhancers	Liver	Liver
44	chr11:68165400-68167800	Enhancers	Lung	lung
45	chr11:68165600-68168800	Enhancers	Fetal Thymus	thymus
46	chr11:68165800-68168400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:68165800-68168400	Enhancers	Fetal Muscle Trunk	muscle
48	chr11:68165800-68168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:68165800-68169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:68165800-68169600	Weak transcription	A549	lung

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