Variant report

Variant	rs314773
Chromosome Location	chr11:68149450-68149451
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68091340..68093779-chr11:68146559..68149604,3	MCF-7	breast:
2	chr11:68034534..68036420-chr11:68148041..68150824,3	K562	blood:
3	chr11:68079123..68084573-chr11:68146394..68152402,13	MCF-7	breast:
4	chr11:68108161..68113775-chr11:68145002..68152027,11	MCF-7	breast:
5	chr11:68148016..68150387-chr11:68152369..68155203,2	K562	blood:
6	chr11:68105610..68107226-chr11:68148823..68150598,2	MCF-7	breast:
7	chr11:68136064..68139002-chr11:68147497..68150205,3	MCF-7	breast:
8	chr11:68032275..68034568-chr11:68147992..68150832,2	MCF-7	breast:
9	chr11:67979631..67983951-chr11:68146778..68151134,8	MCF-7	breast:
10	chr11:68106405..68113140-chr11:68145593..68153963,20	MCF-7	breast:
11	chr11:68079577..68083546-chr11:68146426..68152842,7	MCF-7	breast:
12	chr11:68037967..68041128-chr11:68147422..68150374,4	MCF-7	breast:
13	chr11:68037331..68040945-chr11:68148266..68151598,5	MCF-7	breast:
14	chr11:68148016..68150229-chr11:68152912..68155203,2	K562	blood:
15	chr11:68023332..68026179-chr11:68147030..68149659,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10896321	0.81[EUR][1000 genomes]
rs11602256	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs1784237	0.87[EUR][1000 genomes]
rs2508838	0.84[EUR][1000 genomes]
rs3781590	0.82[EUR][1000 genomes]
rs57197891	0.84[EUR][1000 genomes]
rs587808	0.88[EUR][1000 genomes]
rs628115	0.86[EUR][1000 genomes]
rs629012	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs643892	0.91[EUR][1000 genomes]
rs659605	0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs660925	0.87[AMR][1000 genomes]
rs66787665	0.84[EUR][1000 genomes]
rs671191	0.90[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs314773	C11orf59	cis	cerebellum	SCAN
rs314773	DNAJC4	cis	parietal	SCAN
rs314773	FKBP2	cis	parietal	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:68128200-68153800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:68129800-68153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:68135200-68153400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:68135200-68153600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:68136200-68153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:68136800-68152800	Weak transcription	Dnd41	blood
8	chr11:68137000-68156400	Weak transcription	K562	blood
9	chr11:68139600-68156400	Weak transcription	Hela-S3	cervix
10	chr11:68140000-68150200	Enhancers	Lung	lung
11	chr11:68140000-68153400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:68140200-68153600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:68141400-68153400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:68142800-68153400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:68143000-68156400	Weak transcription	NHEK	skin
17	chr11:68143400-68153200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:68143600-68153400	Weak transcription	Brain Germinal Matrix	brain
19	chr11:68144400-68152800	Weak transcription	Thymus	Thymus
20	chr11:68144800-68150200	Enhancers	Placenta	Placenta
21	chr11:68145600-68152200	Enhancers	Stomach Mucosa	stomach
22	chr11:68145600-68153600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:68145600-68153600	Enhancers	Liver	Liver
24	chr11:68145800-68151000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:68146400-68150400	Enhancers	Spleen	Spleen
26	chr11:68146600-68149600	Enhancers	NHLF	lung
27	chr11:68146600-68149800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:68146600-68149800	Genic enhancers	Fetal Stomach	stomach
29	chr11:68146600-68150200	Enhancers	Primary B cells from peripheral blood	blood
30	chr11:68146600-68150200	Genic enhancers	Fetal Intestine Small	intestine
31	chr11:68146600-68150200	Enhancers	Right Atrium	heart
32	chr11:68146800-68149600	Enhancers	Pancreas	Pancrea
33	chr11:68147000-68149800	Enhancers	Fetal Intestine Large	intestine
34	chr11:68147200-68149600	Enhancers	HSMM	muscle
35	chr11:68147400-68149600	Enhancers	Gastric	stomach
36	chr11:68147400-68149600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:68147400-68149800	Enhancers	Brain Angular Gyrus	brain
38	chr11:68147400-68150200	Enhancers	Ovary	ovary
39	chr11:68147400-68152000	Enhancers	Right Ventricle	heart
40	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:68147600-68149600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:68147600-68149600	Enhancers	Brain Substantia Nigra	brain
43	chr11:68147600-68149600	Enhancers	Fetal Thymus	thymus
44	chr11:68147600-68149800	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:68147800-68149600	Enhancers	Brain Hippocampus Middle	brain
46	chr11:68147800-68149600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:68147800-68151800	Enhancers	Left Ventricle	heart
48	chr11:68148000-68150400	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:68148000-68152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:68148200-68150400	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links