Variant report

Variant	rs41429347
Chromosome Location	chr2:191862448-191862449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:191860421-191862663	GM15510	blood:	n/a	n/a
2	POLR2A	chr2:191862277-191862599	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:191860330-191862676	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:191859723-191862815	K562	blood:	n/a	n/a
5	POLR2A	chr2:191859690-191862738	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:191860359-191863178	GM18951	blood:	n/a	n/a
7	POLR2A	chr2:191859781-191862712	K562	blood:	n/a	n/a
8	POLR2A	chr2:191859693-191863094	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:191862438-191862515	ProgFib	skin:	n/a	n/a
10	POLR2A	chr2:191856742-191863466	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:191862245-191862504	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:191859678-191863342	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:191859678-191862812	GM12892	blood:	n/a	n/a
14	POLR2A	chr2:191862266-191862694	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:191860356-191862673	GM18526	blood:	n/a	n/a
16	POLR2A	chr2:191859684-191862742	GM12891	blood:	n/a	n/a
17	POLR2A	chr2:191859800-191863128	GM19099	blood:	n/a	n/a
18	POLR2A	chr2:191859716-191863362	GM18505	blood:	n/a	n/a
19	POLR2A	chr2:191861619-191862788	GM12892	blood:	n/a	n/a
20	POLR2A	chr2:191859685-191862574	GM12891	blood:	n/a	n/a
21	POLR2A	chr2:191859737-191863376	K562	blood:	n/a	n/a
22	POLR2A	chr2:191859679-191862743	GM12892	blood:	n/a	n/a
23	POLR2A	chr2:191859779-191863164	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:191861122-191862681	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:191859684-191862818	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:191859734-191863239	K562	blood:	n/a	n/a
27	POLR2A	chr2:191859688-191862752	GM12891	blood:	n/a	n/a
28	POLR2A	chr2:191860266-191862690	GM19193	blood:	n/a	n/a
29	POLR2A	chr2:191859708-191863272	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191828792..191830565-chr2:191860903..191862708,2	K562	blood:
2	chr2:191862286..191863959-chr2:191866400..191867986,2	K562	blood:
3	chr2:191745464..191747332-chr2:191861311..191863520,2	K562	blood:
4	chr2:191843608..191846368-chr2:191861763..191863527,2	K562	blood:
5	chr2:191861273..191862801-chr2:191884327..191886706,2	K562	blood:
6	chr2:191862286..191863959-chr2:191865424..191867986,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229023	TF binding region
ENSG00000231858	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000235852	Chromatin interaction
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]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41446247	1.00[AFR][1000 genomes];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	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
8	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
9	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:191828800-191867000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:191829000-191868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:191829400-191868000	Strong transcription	Primary B cells from cord blood	blood
16	chr2:191829400-191870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:191831000-191873800	Strong transcription	HepG2	liver
20	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:191833000-191874200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:191833800-191865600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:191836000-191868400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:191839600-191875600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:191840400-191873200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:191844200-191872400	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:191845400-191870800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:191845400-191872000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:191845400-191874000	Strong transcription	NHLF	lung
30	chr2:191845400-191875600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:191845400-191875800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:191845600-191873000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:191845800-191863200	Strong transcription	Fetal Intestine Large	intestine
34	chr2:191846000-191876800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:191846600-191866000	Strong transcription	Fetal Stomach	stomach
36	chr2:191846800-191864800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:191846800-191868400	Strong transcription	Fetal Thymus	thymus
38	chr2:191846800-191875600	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:191847400-191865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:191847600-191864400	Strong transcription	Brain Substantia Nigra	brain
41	chr2:191847800-191876800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:191848400-191876600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:191848600-191868600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:191848600-191868800	Strong transcription	Primary T cells from cord blood	blood
45	chr2:191848600-191876000	Strong transcription	Placenta	Placenta
46	chr2:191849800-191874000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:191850000-191864600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:191850000-191865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:191850200-191865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:191850400-191864600	Strong transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links