Variant report

Variant	rs10993081
Chromosome Location	chr9:96939718-96939719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96935497-96946284	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:96938953-96939858	GM12891	blood:	n/a	n/a
3	POLR2A	chr9:96938897-96939910	GM12892	blood:	n/a	n/a
4	POLR2A	chr9:96938725-96940000	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:96935486-96946923	K562	blood:	n/a	n/a
6	POLR2A	chr9:96938825-96939923	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr9:96939269-96939920	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr9:96935500-96945447	A549	lung:	n/a	n/a
9	POLR2A	chr9:96938880-96939989	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:96939706-96939868	K562	blood:	n/a	n/a
11	POLR2A	chr9:96938894-96940004	K562	blood:	n/a	n/a
12	POLR2A	chr9:96938917-96939962	GM12892	blood:	n/a	n/a
13	STAT3	chr9:96939632-96939814	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr9:96938796-96940009	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:96939640-96939911	MCF-7	breast:	n/a	n/a
16	POLR2A	chr9:96939449-96939985	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr9:96938882-96939969	GM12891	blood:	n/a	n/a
18	POLR2A	chr9:96938823-96939987	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr9:96938982-96939946	K562	blood:	n/a	n/a
20	POLR2A	chr9:96939521-96939810	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr9:96939621-96939785	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr9:96939000-96945204	K562	blood:	n/a	n/a
23	POLR2A	chr9:96938890-96940045	GM12892	blood:	n/a	n/a
24	POLR2A	chr9:96939572-96939878	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr9:96938916-96939791	K562	blood:	n/a	n/a
26	POLR2A	chr9:96937775-96940483	U87	brain:	n/a	n/a
27	POLR2A	chr9:96938950-96939898	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:96938859-96939949	GM12878	blood:	n/a	n/a
29	POLR2A	chr9:96938849-96939929	GM12892	blood:	n/a	n/a
30	POLR2A	chr9:96938937-96939941	HepG2	liver:	n/a	n/a
31	POLR2A	chr9:96938907-96947131	GM12891	blood:	n/a	n/a
32	POLR2A	chr9:96938818-96944848	K562	blood:	n/a	n/a
33	POLR2A	chr9:96938767-96939997	K562	blood:	n/a	n/a
34	POLR2A	chr9:96938853-96946169	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr9:96939679-96939878	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr9:96939619-96939796	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96844456..96848566-chr9:96937566..96941042,3	K562	blood:
2	chr9:96791676..96794493-chr9:96936767..96941836,4	MCF-7	breast:
3	chr9:96790406..96793524-chr9:96937356..96939962,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM22F-1	chr9:96938884-96940013	ENSG00000230262
2	lnc-PTPDC1-7	chr9:96938785-96939872	NONHSAT133286
3	lnc-FAM22F-1	chr9:96938884-96940013	ENSG00000230262.2
4	lnc-PTPDC1-7	chr9:96938740-96940174	ENSG00000269929.1
5	lnc-FAM22F-1	chr9:96938852-96940013	NONHSAT133295
6	lnc-FAM22F-1	chr9:96938852-96940013	NONHSAT133296
7	lnc-FAM22F-1	chr9:96938884-96940013	ENSG00000230262.2

No data

Variant related genes	Relation type
MIRLET7D	TF binding region
ENSG00000158079	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10993082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993083	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993089	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993091	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3909252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4333674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9792534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96929800-96944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:96929800-96948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:96930600-96943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:96930600-96943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:96931400-96965600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:96933600-96939800	Strong transcription	Hela-S3	cervix
7	chr9:96933800-96940400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:96934000-96941800	Strong transcription	Dnd41	blood
9	chr9:96934200-96939800	Genic enhancers	Osteobl	bone
10	chr9:96934200-96941000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:96934400-96939800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:96934400-96942400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:96935000-96939800	Genic enhancers	A549	lung
14	chr9:96935200-96940600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:96935400-96940000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:96935400-96940000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr9:96935400-96942200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:96935400-96942400	Strong transcription	Fetal Thymus	thymus
19	chr9:96935600-96942400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:96935600-96942400	Genic enhancers	HepG2	liver
21	chr9:96935800-96940000	Strong transcription	K562	blood
22	chr9:96935800-96940400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:96935800-96940400	Weak transcription	Spleen	Spleen
24	chr9:96935800-96942400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:96936000-96940200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr9:96936000-96940400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr9:96936000-96941800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr9:96936800-96945200	Weak transcription	Fetal Intestine Small	intestine
29	chr9:96937000-96940400	Weak transcription	Ovary	ovary
30	chr9:96937000-96942000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:96937000-96943400	Weak transcription	Aorta	Aorta
32	chr9:96937200-96943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:96937200-96944800	Weak transcription	Fetal Heart	heart
34	chr9:96937200-96959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:96937600-96940400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:96937600-96941000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:96937800-96939800	Genic enhancers	Brain Hippocampus Middle	brain
38	chr9:96937800-96939800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:96937800-96940200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:96937800-96942200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr9:96937800-96942400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr9:96937800-96946600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:96938000-96939800	Genic enhancers	Right Ventricle	heart
44	chr9:96938000-96942400	Strong transcription	Placenta	Placenta
45	chr9:96938200-96939800	Strong transcription	NHDF-Ad	bronchial
46	chr9:96938200-96940000	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr9:96938200-96940400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:96938200-96940400	Genic enhancers	Colon Smooth Muscle	Colon
49	chr9:96938200-96940600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr9:96938200-96943000	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links