Variant report

Variant	rs2024374
Chromosome Location	chr7:7758559-7758560
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:7758162-7759380	Hela-S3	cervix:	n/a	chr7:7759133-7759144 chr7:7758864-7758877
2	MXI1	chr7:7757878-7760334	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr7:7758076-7759268	SH-SY5Y	brain:	n/a	chr7:7758222-7758229 chr7:7758222-7758229 chr7:7758222-7758229 chr7:7758221-7758231 chr7:7758218-7758234
4	TCF12	chr7:7758035-7759465	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RPA3	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10251718	1.00[JPT][hapmap]
rs1045580	0.83[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12702629	1.00[ASN][1000 genomes]
rs12702632	1.00[ASN][1000 genomes]
rs12702633	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13225575	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13227585	1.00[ASN][1000 genomes]
rs13227675	1.00[ASN][1000 genomes]
rs13227682	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13229887	1.00[ASN][1000 genomes]
rs17169196	1.00[JPT][hapmap]
rs17524233	1.00[JPT][hapmap]
rs17545831	1.00[ASN][1000 genomes]
rs17547731	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28915992	1.00[ASN][1000 genomes]
rs28916005	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34302387	1.00[ASN][1000 genomes]
rs34674816	1.00[ASN][1000 genomes]
rs34820918	1.00[ASN][1000 genomes]
rs34972393	1.00[ASN][1000 genomes]
rs35202374	1.00[ASN][1000 genomes]
rs35278933	1.00[ASN][1000 genomes]
rs36130255	1.00[ASN][1000 genomes]
rs59693264	1.00[ASN][1000 genomes]
rs62434910	1.00[ASN][1000 genomes]
rs6463702	1.00[JPT][hapmap]
rs6974820	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6980052	1.00[JPT][hapmap]
rs7789164	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7793870	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7737600-7778800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:7740000-7759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:7743600-7762800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:7743600-7772800	Weak transcription	Gastric	stomach
5	chr7:7745600-7758800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:7746000-7762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:7747800-7763800	Weak transcription	Left Ventricle	heart
8	chr7:7748200-7772200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:7749200-7758800	Weak transcription	Primary T cells from cord blood	blood
10	chr7:7749200-7770800	Weak transcription	Small Intestine	intestine
11	chr7:7750800-7760400	Weak transcription	Primary B cells from cord blood	blood
12	chr7:7752600-7790400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:7754800-7758600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:7755400-7772800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:7756800-7765600	Weak transcription	Fetal Intestine Small	intestine
16	chr7:7757000-7758600	Enhancers	Dnd41	blood
17	chr7:7757000-7770600	Weak transcription	Pancreas	Pancrea
18	chr7:7757200-7760000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:7757600-7758600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:7757800-7760800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:7758000-7759400	Enhancers	A549	lung
22	chr7:7758000-7759600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr7:7758000-7760200	Enhancers	HSMM	muscle
24	chr7:7758200-7758600	Enhancers	Brain Anterior Caudate	brain
25	chr7:7758200-7758600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:7758200-7758600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:7758200-7758800	Enhancers	GM12878-XiMat	blood
28	chr7:7758200-7759200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:7758200-7759600	Enhancers	NHEK	skin
30	chr7:7758200-7760000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:7758200-7761000	Enhancers	Hela-S3	cervix
32	chr7:7758200-7761600	Enhancers	Fetal Thymus	thymus
33	chr7:7758400-7758800	Enhancers	Thymus	Thymus
34	chr7:7758400-7759200	Enhancers	Brain Angular Gyrus	brain
35	chr7:7758400-7759600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:7758400-7759600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr7:7758400-7759600	Enhancers	HMEC	breast
38	chr7:7758400-7760200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:7758400-7760200	Enhancers	HSMMtube	muscle
40	chr7:7758400-7760600	Enhancers	Colon Smooth Muscle	Colon
41	chr7:7758400-7760800	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links