Variant report

Variant	rs41291977
Chromosome Location	chr12:49331679-49331680
allele	A/C/G/T
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	chr12:49331003..49333458-chr20:47661511..47663292,2	MCF-7	breast:
2	chr12:49327870..49331449-chr12:49331583..49333328,3	MCF-7	breast:
3	chr12:49328781..49333204-chr12:49334192..49337825,5	MCF-7	breast:
4	chr12:49323463..49325005-chr12:49330605..49333416,2	K562	blood:
5	chr12:49244567..49247079-chr12:49330960..49332494,2	MCF-7	breast:
6	chr12:49330325..49332788-chr12:49411249..49413822,2	MCF-7	breast:
7	chr12:49243870..49249209-chr12:49327760..49332795,6	K562	blood:
8	chr12:49331313..49331816-chr12:49374581..49375319,2	K562	blood:
9	chr12:49246371..49248199-chr12:49329739..49331713,10	K562	blood:
10	chr12:49326822..49334011-chr12:49345841..49353556,12	MCF-7	breast:
11	chr12:49326274..49328572-chr12:49329967..49332828,2	K562	blood:
12	chr12:49331273..49332162-chr3:52007627..52008354,2	HCT-116	colon:
13	chr12:49244774..49246621-chr12:49330050..49332795,2	K562	blood:
14	chr12:49322489..49325005-chr12:49330130..49332105,2	K562	blood:
15	chr12:49329708..49332921-chr12:49334561..49338029,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124207	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000272762	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000248487	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000227431	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168810	0.86[EUR][1000 genomes]
rs12122	0.86[EUR][1000 genomes]
rs12829682	1.00[EUR][1000 genomes]
rs2694841	0.86[EUR][1000 genomes]
rs708242	1.00[EUR][1000 genomes]
rs71464944	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7305811	1.00[EUR][1000 genomes]
rs833823	0.86[EUR][1000 genomes]
rs833829	0.86[EUR][1000 genomes]
rs833834	0.80[EUR][1000 genomes]
rs833835	0.86[EUR][1000 genomes]
rs941193	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv899067	chr12:49329695-49344508	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:49319400-49337800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49319600-49331800	Weak transcription	Psoas Muscle	Psoas
6	chr12:49319600-49332800	Weak transcription	Small Intestine	intestine
7	chr12:49319600-49334600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:49319800-49333200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:49319800-49349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:49320800-49333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:49320800-49333600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:49320800-49335800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:49320800-49336000	Strong transcription	A549	lung
14	chr12:49320800-49338600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:49321000-49332200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:49321000-49333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:49321000-49334200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:49321000-49335000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:49321000-49335600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:49321000-49335800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:49321000-49336400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:49321000-49336800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:49321000-49338200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:49321200-49332200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:49321400-49334200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:49321600-49334600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:49321800-49337800	Strong transcription	Fetal Intestine Small	intestine
28	chr12:49322800-49335200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:49322800-49337600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:49322800-49338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:49323000-49334600	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:49323000-49335200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:49323000-49335400	Strong transcription	Lung	lung
34	chr12:49323000-49335800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:49323000-49335800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:49323000-49335800	Strong transcription	Fetal Brain Female	brain
37	chr12:49323000-49336400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:49323000-49337800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:49323000-49338600	Strong transcription	GM12878-XiMat	blood
40	chr12:49323200-49332400	Strong transcription	Brain Anterior Caudate	brain
41	chr12:49323200-49332400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:49323200-49334000	Strong transcription	Osteobl	bone
43	chr12:49323200-49335800	Strong transcription	Brain Germinal Matrix	brain
44	chr12:49323200-49337800	Strong transcription	Fetal Intestine Large	intestine
45	chr12:49323400-49334800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:49323400-49335200	Strong transcription	HMEC	breast
47	chr12:49323400-49336400	Strong transcription	Hela-S3	cervix
48	chr12:49323400-49338600	Strong transcription	HUVEC	blood vessel
49	chr12:49324000-49337800	Strong transcription	Fetal Stomach	stomach
50	chr12:49324400-49332200	Strong transcription	Primary B cells from cord blood	blood

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