Variant report

Variant	rs41383548
Chromosome Location	chr2:191850845-191850846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:191849142-191851597	GM19099	blood:	n/a	n/a
2	POLR2A	chr2:191850464-191851325	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:191850548-191851157	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:191849197-191850931	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:191849094-191851639	GM18526	blood:	n/a	n/a
6	POLR2A	chr2:191848942-191854334	K562	blood:	n/a	n/a
7	POLR2A	chr2:191848859-191856587	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:191849164-191852341	GM19193	blood:	n/a	n/a
9	POLR2A	chr2:191848903-191854367	GM12892	blood:	n/a	n/a
10	POLR2A	chr2:191848932-191851761	GM12892	blood:	n/a	n/a
11	POLR2A	chr2:191848917-191854443	GM12892	blood:	n/a	n/a
12	POLR2A	chr2:191850428-191851502	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:191849022-191856229	K562	blood:	n/a	n/a
14	POLR2A	chr2:191848968-191851555	GM12891	blood:	n/a	n/a
15	POLR2A	chr2:191848928-191851702	GM12891	blood:	n/a	n/a
16	POLR2A	chr2:191848814-191851776	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:191849038-191851690	GM12891	blood:	n/a	n/a
18	POLR2A	chr2:191849063-191856480	K562	blood:	n/a	n/a
19	POLR2A	chr2:191849277-191851642	GM18951	blood:	n/a	n/a
20	POLR2A	chr2:191849001-191851662	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:191848982-191851737	GM12892	blood:	n/a	n/a
22	POLR2A	chr2:191849124-191856478	GM18505	blood:	n/a	n/a
23	POLR2A	chr2:191849186-191851646	GM15510	blood:	n/a	n/a
24	POLR2A	chr2:191848956-191851679	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:191848818-191854368	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:191848856-191853095	K562	blood:	n/a	n/a
27	POLR2A	chr2:191849256-191851600	GM12892	blood:	n/a	n/a
28	POLR2A	chr2:191850823-191850984	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191846894..191849681-chr2:191850834..191854885,7	K562	blood:
2	chr2:191847106..191848671-chr2:191849421..191851721,2	MCF-7	breast:
3	chr2:191850621..191852467-chr2:191876104..191878688,2	MCF-7	breast:
4	chr2:191848706..191851677-chr2:191852878..191854882,3	MCF-7	breast:

No data

Variant related genes	Relation type
STAT1	TF binding region
ENSG00000115415	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	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	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:191824200-191877200	Strong transcription	HSMM	muscle
2	chr2:191824600-191865400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr2:191825600-191861800	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191826200-191858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:191826600-191860400	Strong transcription	GM12878-XiMat	blood
8	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
11	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
12	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:191828800-191867000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:191829000-191868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:191829400-191868000	Strong transcription	Primary B cells from cord blood	blood
19	chr2:191829400-191870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:191831000-191873800	Strong transcription	HepG2	liver
23	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:191833000-191856400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:191833000-191862000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr2:191833000-191874200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:191833400-191856600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:191833800-191865600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:191834200-191856400	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr2:191834200-191861400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:191834600-191856200	Strong transcription	Brain Angular Gyrus	brain
32	chr2:191834600-191861600	Strong transcription	Colon Smooth Muscle	Colon
33	chr2:191834800-191856400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:191835000-191851800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:191835000-191853000	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr2:191835400-191855000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:191836000-191861600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:191836000-191868400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:191836200-191861400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:191836200-191861400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:191838600-191856400	Strong transcription	Brain Anterior Caudate	brain
42	chr2:191839600-191854800	Strong transcription	HSMMtube	muscle
43	chr2:191839600-191875600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:191840400-191873200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:191842400-191859600	Strong transcription	Small Intestine	intestine
46	chr2:191843000-191853000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:191843000-191856200	Strong transcription	Fetal Brain Female	brain
48	chr2:191844200-191872400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:191845200-191856200	Strong transcription	Colonic Mucosa	Colon
50	chr2:191845200-191856400	Strong transcription	Lung	lung

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