Variant report

Variant	rs2288648
Chromosome Location	chr7:150774308-150774309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150773818-150774649	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:150772671-150776737	PFSK-1	brain:	n/a	n/a
3	BCL3	chr7:150772762-150774485	A549	lung:	n/a	n/a
4	RAD21	chr7:150773847-150774331	H1-hESC	embryonic stem cell:	n/a	n/a
5	HA-E2F1	chr7:150774083-150774764	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:150770896-150778995	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr7:150773790-150774509	A549	lung:	n/a	n/a
8	POLR2A	chr7:150773906-150774377	Gliobla	brain:	n/a	n/a
9	POLR2A	chr7:150771355-150780971	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:150773913-150774512	MCF-7	breast:	n/a	n/a
11	PML	chr7:150773825-150774361	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:150773915-150774427	HepG2	liver:	n/a	n/a
13	BCL3	chr7:150772904-150775855	A549	lung:	n/a	n/a
14	POLR2A	chr7:150773803-150774485	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:150771396-150776453	U87	brain:	n/a	n/a
16	POLR2A	chr7:150770802-150778585	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:150773852-150774919	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:150773687-150776244	ECC-1	luminal epithelium:	n/a	n/a
19	SIN3AK20	chr7:150773609-150774408	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr7:150773542-150774894	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:150773223-150774469	K562	blood:	n/a	n/a
22	POLR2A	chr7:150774028-150774541	PBDE	blood:	n/a	n/a
23	POLR2A	chr7:150772879-150776773	K562	blood:	n/a	n/a
24	CTCF	chr7:150773720-150774833	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr7:150773626-150774790	A549	lung:	n/a	n/a
26	POLR2A	chr7:150772743-150776397	GM12891	blood:	n/a	n/a
27	POLR2A	chr7:150772794-150774667	GM15510	blood:	n/a	n/a
28	POLR2A	chr7:150773958-150774618	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:150773800-150774873	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:150773770-150774682	HL-60	blood:	n/a	n/a
31	POLR2A	chr7:150771543-150778346	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr7:150773728-150775174	A549	lung:	n/a	n/a
33	POLR2A	chr7:150773879-150774764	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:150773614-150774763	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:150772413-150778806	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr7:150773713-150778372	GM12892	blood:	n/a	n/a
37	POLR2A	chr7:150773809-150775187	A549	lung:	n/a	n/a
38	POLR2A	chr7:150773744-150774640	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr7:150773945-150774702	GM12892	blood:	n/a	n/a
40	POLR2A	chr7:150773730-150774580	GM12891	blood:	n/a	n/a
41	POLR2A	chr7:150773835-150776542	GM12878	blood:	n/a	n/a
42	CTCF	chr7:150774260-150774410	BE2_C	brain:	n/a	n/a
43	POLR2A	chr7:150773866-150775980	Raji	blood:	n/a	n/a
44	CTCF	chr7:150774240-150774390	Caco-2	colon:	n/a	n/a
45	POLR2A	chr7:150771432-150776444	U87	brain:	n/a	n/a
46	CTCF	chr7:150774260-150774410	HRE	kidney:	n/a	n/a
47	POLR2A	chr7:150773904-150774593	HepG2	liver:	n/a	n/a
48	POLR2A	chr7:150773755-150776004	ProgFib	skin:	n/a	n/a
49	MAX	chr7:150773736-150774410	A549	lung:	n/a	n/a
50	POLR2A	chr7:150773866-150776188	GM19193	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150757704..150758574-chr7:150773914..150774999,3	MCF-7	breast:

No data

Variant related genes	Relation type
FASTK	TF binding region
ENSG00000244151	TF binding region
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10279150	0.90[CHB][hapmap];0.95[ASN][1000 genomes]
rs10279252	0.84[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs11769922	0.83[ASN][1000 genomes]
rs2303935	0.87[ASN][1000 genomes]
rs2303938	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2303940	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2303941	0.92[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34159116	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4440544	0.84[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs4517031	0.84[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs4571654	0.87[ASN][1000 genomes]
rs4725390	0.84[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs4725391	0.92[JPT][hapmap]
rs4725991	0.81[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs4725994	0.81[ASN][1000 genomes]
rs72617352	0.93[ASN][1000 genomes]
rs72617354	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
14	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
17	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv517508	chr7:150762871-150775306	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
23	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
24	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
25	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
26	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
27	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150758400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150758800-150774600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:150758800-150774800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:150758800-150775800	Strong transcription	Thymus	Thymus
5	chr7:150759000-150774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:150759000-150775400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:150759200-150775400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:150759200-150776400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:150759400-150775600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150760000-150775000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:150760200-150775000	Weak transcription	Right Atrium	heart
13	chr7:150760400-150775400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:150760600-150775200	Strong transcription	Lung	lung
15	chr7:150760600-150776800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:150760800-150775000	Strong transcription	NHLF	lung
17	chr7:150760800-150775200	Strong transcription	Fetal Muscle Leg	muscle
18	chr7:150760800-150775400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:150760800-150776600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:150761000-150775200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:150761200-150774400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:150761200-150774400	Strong transcription	K562	blood
23	chr7:150761200-150774600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:150761200-150774600	Strong transcription	Adipose Nuclei	Adipose
25	chr7:150761200-150774600	Strong transcription	Ovary	ovary
26	chr7:150761200-150775000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:150761200-150775200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:150761200-150775200	Strong transcription	Fetal Stomach	stomach
29	chr7:150761200-150775600	Strong transcription	Fetal Thymus	thymus
30	chr7:150761600-150774400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:150761600-150774600	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:150761600-150775000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:150761600-150775400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:150761600-150775800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:150765200-150774800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr7:150765400-150774400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:150765400-150776000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:150765600-150775000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:150765600-150777000	Weak transcription	Fetal Kidney	kidney
40	chr7:150765800-150774800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:150765800-150776200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:150767600-150775600	Weak transcription	Psoas Muscle	Psoas
43	chr7:150768000-150776200	Weak transcription	HUVEC	blood vessel
44	chr7:150768600-150775200	Weak transcription	HSMM	muscle
45	chr7:150770600-150774400	Strong transcription	Colonic Mucosa	Colon
46	chr7:150770600-150774600	Strong transcription	Dnd41	blood
47	chr7:150770600-150775200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:150770600-150775400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:150770600-150775800	Strong transcription	Fetal Brain Female	brain
50	chr7:150770800-150774400	Strong transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links