Variant report

Variant	rs73483955
Chromosome Location	chr11:62461976-62461977
allele	A/C
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	RAD21	chr11:62461772-62462810	SK-N-SH	brain:	n/a	chr11:62462525-62462538 chr11:62462347-62462361 chr11:62462340-62462359 chr11:62462343-62462356
2	CTCF	chr11:62461900-62462050	GM12871	blood:	n/a	n/a
3	CTCF	chr11:62461940-62462090	AG04449	skin:	n/a	n/a
4	CTCF	chr11:62461939-62462830	SK-N-SH	brain:	n/a	chr11:62462337-62462358 chr11:62462344-62462357 chr11:62462345-62462363 chr11:62462347-62462360 chr11:62462342-62462360
5	CTCF	chr11:62461954-62462745	A549	lung:	n/a	chr11:62462337-62462358 chr11:62462344-62462357 chr11:62462345-62462363 chr11:62462347-62462360 chr11:62462342-62462360
6	POLR2A	chr11:62461865-62462562	PANC-1	pancreas:	n/a	n/a
7	RAD21	chr11:62461887-62462697	HCT-116	colon:	n/a	chr11:62462525-62462538 chr11:62462347-62462361 chr11:62462340-62462359 chr11:62462343-62462356
8	POLR2A	chr11:62461770-62462614	HepG2	liver:	n/a	n/a
9	RAD21	chr11:62461949-62462702	HCT-116	colon:	n/a	chr11:62462525-62462538 chr11:62462347-62462361 chr11:62462340-62462359 chr11:62462343-62462356
10	PML	chr11:62461832-62462570	GM12878	blood:	n/a	n/a
11	CTCF	chr11:62461969-62462843	HCT-116	colon:	n/a	chr11:62462337-62462358 chr11:62462344-62462357 chr11:62462345-62462363 chr11:62462347-62462360 chr11:62462342-62462360

No.	Distal block	Cell Line	Cell type
1	chr11:62379796..62380671-chr11:62461865..62462777,5	K562	blood:
2	chr11:62459147..62462324-chr11:62608122..62609946,3	K562	blood:
3	chr11:62461222..62463498-chr11:62475273..62476885,2	MCF-7	breast:
4	chr11:62362771..62365584-chr11:62461713..62463985,2	K562	blood:
5	chr11:62431383..62435243-chr11:62459760..62464044,5	K562	blood:
6	chr11:62460824..62462451-chr11:62608122..62610723,2	K562	blood:
7	chr11:62461098..62463928-chr11:62464466..62466072,3	K562	blood:
8	chr11:62431383..62434998-chr11:62461047..62463850,4	K562	blood:
9	chr11:62358226..62360334-chr11:62459590..62462332,2	MCF-7	breast:
10	chr11:62431117..62436333-chr11:62459722..62465529,11	MCF-7	breast:

Variant related genes	Relation type
LRRN4CL	TF binding region
BSCL2	TF binding region
ENSG00000255432	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000206597	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	1.00[AMR][1000 genomes]
rs58792209	1.00[AMR][1000 genomes]
rs59143369	1.00[AMR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73483978	1.00[AMR][1000 genomes]
rs73485621	1.00[AMR][1000 genomes]
rs73485634	1.00[AMR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73502144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers 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 miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
7	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62447000-62472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:62453600-62462000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:62456000-62472800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:62456000-62472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:62456000-62472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:62456800-62462000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:62456800-62462400	Strong transcription	Brain Germinal Matrix	brain
8	chr11:62456800-62462600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:62457000-62462000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:62457000-62462600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:62457000-62464400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:62457000-62472600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:62457000-62472800	Weak transcription	Small Intestine	intestine
14	chr11:62457400-62462000	Strong transcription	Fetal Thymus	thymus
15	chr11:62457400-62462200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr11:62457400-62462200	Strong transcription	Fetal Intestine Large	intestine
17	chr11:62457400-62462600	Strong transcription	Brain Anterior Caudate	brain
18	chr11:62457600-62462000	Weak transcription	Right Atrium	heart
19	chr11:62457600-62462200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:62457600-62462400	Strong transcription	Brain Angular Gyrus	brain
21	chr11:62457800-62462000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:62457800-62472200	Weak transcription	Fetal Heart	heart
23	chr11:62458000-62462000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:62458000-62462200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:62458200-62462600	Strong transcription	Fetal Intestine Small	intestine
26	chr11:62458400-62462000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:62458400-62462000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:62458400-62462400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:62458600-62462000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:62458600-62462800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:62458800-62462000	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:62458800-62462200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:62459000-62462200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:62459000-62464800	Strong transcription	Fetal Stomach	stomach
35	chr11:62459200-62462000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:62459800-62472600	Weak transcription	HUVEC	blood vessel
37	chr11:62460000-62462200	Strong transcription	Fetal Kidney	kidney
38	chr11:62460400-62462200	Strong transcription	Fetal Brain Male	brain
39	chr11:62460400-62472200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:62460400-62472800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:62460400-62473200	Weak transcription	Aorta	Aorta
42	chr11:62460600-62462000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:62460600-62462000	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:62460600-62462000	Weak transcription	Ovary	ovary
45	chr11:62460600-62462200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:62460600-62464000	Weak transcription	Stomach Mucosa	stomach
47	chr11:62460600-62468400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:62460600-62468400	Weak transcription	Hela-S3	cervix
49	chr11:62460600-62472400	Weak transcription	HMEC	breast
50	chr11:62460600-62472600	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links