Variant report

Variant	rs7918340
Chromosome Location	chr10:97054442-97054443
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:97054284-97055833	GM12891	blood:	n/a	n/a
2	MTA3	chr10:97054225-97055902	GM12878	blood:	n/a	n/a
3	NFIC	chr10:97054408-97055956	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:97054346-97055856	GM12891	blood:	n/a	n/a
5	FOXM1	chr10:97054223-97055829	GM12878	blood:	n/a	n/a
6	RUNX3	chr10:97054317-97055566	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:97054369-97055771	GM19099	blood:	n/a	n/a
8	POLR2A	chr10:97054404-97055764	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:97054385-97055786	GM18505	blood:	n/a	n/a
10	PML	chr10:97054310-97055573	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:97054339-97055712	GM12891	blood:	n/a	n/a
12	BCLAF1	chr10:97054286-97055575	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:97054235-97055878	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:97054112-97055912	GM12892	blood:	n/a	n/a
15	POLR2A	chr10:97054198-97056364	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:97054260-97056208	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:97054190-97055839	GM12892	blood:	n/a	n/a
18	POLR2A	chr10:97054221-97055541	GM12892	blood:	n/a	n/a
19	POLR2A	chr10:97054416-97055643	GM12878	blood:	n/a	n/a
20	CHD1	chr10:97054414-97055693	GM12878	blood:	n/a	n/a
21	MTA3	chr10:97054205-97056286	GM12878	blood:	n/a	n/a
22	CEBPB	chr10:97054303-97055902	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:97054085-97055879	GM12892	blood:	n/a	n/a
24	POLR2A	chr10:97054281-97055809	GM12891	blood:	n/a	n/a
25	POLR2A	chr10:97054388-97055747	GM12892	blood:	n/a	n/a
26	E2F4	chr10:97054431-97054531	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr10:97054226-97055856	GM12891	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97051927..97054727-chr10:97113861..97115578,2	K562	blood:
2	chr10:97053251..97055097-chr10:97056727..97058389,2	K562	blood:
3	chr10:97049651..97052657-chr10:97053278..97056357,3	MCF-7	breast:
4	chr10:97054091..97056343-chr10:97062077..97064550,2	K562	blood:
5	chr10:97038835..97040878-chr10:97054289..97056491,2	K562	blood:
6	chr10:96975681..96977490-chr10:97052151..97054934,2	K562	blood:
7	chr10:97021192..97022891-chr10:97052326..97054601,2	K562	blood:
8	chr10:97047325..97053107-chr10:97053232..97056483,6	MCF-7	breast:

No data

Variant related genes	Relation type
PDLIM1	TF binding region
ENSG00000107438	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1536747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7099702	0.86[AFR][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	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv552021	chr10:97053404-97071334	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97050600-97054600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:97051200-97054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:97051200-97054600	Weak transcription	Aorta	Aorta
4	chr10:97051200-97054600	Weak transcription	Liver	Liver
5	chr10:97051200-97054600	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:97051200-97054600	Weak transcription	Lung	lung
7	chr10:97051200-97054600	Weak transcription	Psoas Muscle	Psoas
8	chr10:97051200-97054600	Weak transcription	Right Atrium	heart
9	chr10:97051200-97054800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:97051200-97054800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:97051200-97054800	Weak transcription	HSMM	muscle
12	chr10:97051200-97055000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:97051200-97056800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:97051400-97054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:97051400-97054600	Enhancers	Primary B cells from peripheral blood	blood
16	chr10:97051400-97054600	Weak transcription	Esophagus	oesophagus
17	chr10:97051400-97054600	Weak transcription	Left Ventricle	heart
18	chr10:97051400-97054600	Weak transcription	Pancreas	Pancrea
19	chr10:97051400-97054600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:97051400-97054600	Weak transcription	HUVEC	blood vessel
21	chr10:97051600-97054600	Weak transcription	Right Ventricle	heart
22	chr10:97051600-97054600	Weak transcription	NH-A	brain
23	chr10:97051600-97055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:97051800-97054600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:97051800-97054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:97051800-97054600	Weak transcription	Fetal Heart	heart
27	chr10:97052600-97054600	Weak transcription	Spleen	Spleen
28	chr10:97053200-97054800	Enhancers	Fetal Intestine Large	intestine
29	chr10:97053600-97054600	Weak transcription	Adipose Nuclei	Adipose
30	chr10:97053600-97054800	Enhancers	Primary B cells from cord blood	blood
31	chr10:97054200-97054600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:97054200-97054600	Enhancers	Duodenum Mucosa	Duodenum
33	chr10:97054200-97054600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr10:97054200-97054600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr10:97054200-97054600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:97054200-97054600	Enhancers	NHEK	skin
37	chr10:97054200-97054800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr10:97054200-97054800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:97054200-97054800	Enhancers	Fetal Intestine Small	intestine
40	chr10:97054200-97054800	Enhancers	Fetal Thymus	thymus
41	chr10:97054200-97054800	Enhancers	HMEC	breast
42	chr10:97054400-97054600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr10:97054400-97054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:97054400-97054600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:97054400-97054600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:97054400-97054600	Enhancers	Colonic Mucosa	Colon
47	chr10:97054400-97054600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr10:97054400-97054600	Enhancers	Thymus	Thymus
49	chr10:97054400-97054800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr10:97054400-97054800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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