Variant report

Variant	rs35023386
Chromosome Location	chr7:7811819-7811820
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	POLR2A	chr7:7811814-7812468	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr7:7811701-7812342	MCF10A-Er-Src	breast:	n/a	chr7:7812235-7812246
3	STAT3	chr7:7811760-7812336	MCF10A-Er-Src	breast:	n/a	chr7:7812235-7812246
4	KAP1	chr7:7811818-7812332	U2OS	brain:	n/a	n/a
5	STAT3	chr7:7811616-7812361	MCF10A-Er-Src	breast:	n/a	chr7:7812235-7812246

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7809766..7812689-chr7:8007861..8010451,3	MCF-7	breast:

Variant related genes	Relation type
RPA3-AS1	TF binding region
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11768218	0.81[EUR][1000 genomes]
rs11769054	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11771147	0.81[AMR][1000 genomes]
rs12702644	0.89[ASN][1000 genomes]
rs12702646	0.88[ASN][1000 genomes]
rs13221072	0.88[ASN][1000 genomes]
rs13221076	0.88[ASN][1000 genomes]
rs36005831	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv887490	chr7:7801684-7908970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7802400-7812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:7802400-7812000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:7802400-7812200	Weak transcription	Small Intestine	intestine
4	chr7:7802400-7829800	Weak transcription	Left Ventricle	heart
5	chr7:7802400-7841400	Weak transcription	Ovary	ovary
6	chr7:7802600-7812200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:7802600-7836600	Weak transcription	Aorta	Aorta
8	chr7:7805400-7854400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:7807600-7819000	Weak transcription	Stomach Mucosa	stomach
10	chr7:7808000-7812000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:7808000-7813600	Weak transcription	Hela-S3	cervix
12	chr7:7809400-7812000	Enhancers	Osteobl	bone
13	chr7:7809400-7812200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:7809400-7813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:7810200-7812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:7810200-7812000	Weak transcription	Fetal Stomach	stomach
17	chr7:7810200-7812000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:7810200-7813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:7810800-7812000	Enhancers	Primary T cells from cord blood	blood
20	chr7:7810800-7812000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:7810800-7812200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:7810800-7812600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:7811000-7812000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:7811000-7812000	Enhancers	HSMM	muscle
25	chr7:7811000-7812600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:7811000-7812800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:7811200-7812000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:7811200-7812000	Enhancers	NH-A	brain
29	chr7:7811400-7812000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:7811400-7812200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:7811400-7812200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:7811400-7812200	Enhancers	Primary B cells from peripheral blood	blood
33	chr7:7811400-7812200	Weak transcription	Fetal Thymus	thymus
34	chr7:7811600-7812000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:7811600-7812000	Weak transcription	Thymus	Thymus
36	chr7:7811600-7812000	Enhancers	GM12878-XiMat	blood
37	chr7:7811600-7812400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:7811600-7814000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:7811800-7812000	Enhancers	Brain Anterior Caudate	brain
40	chr7:7811800-7812000	Enhancers	Brain Germinal Matrix	brain
41	chr7:7811800-7812000	Enhancers	Brain Hippocampus Middle	brain
42	chr7:7811800-7812000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:7811800-7812000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:7811800-7812000	Enhancers	Dnd41	blood
45	chr7:7811800-7812000	Flanking Active TSS	HMEC	breast
46	chr7:7811800-7812000	Enhancers	HSMMtube	muscle
47	chr7:7811800-7812000	Flanking Active TSS	NHEK	skin
48	chr7:7811800-7812200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:7811800-7812200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:7811800-7812200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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