Variant report

Variant	rs35246066
Chromosome Location	chr7:100470267-100470268
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100470231-100470297	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:100469757-100470456	K562	blood:	n/a	n/a
3	POLR2A	chr7:100470116-100470371	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:100470120-100470318	K562	blood:	n/a	n/a
5	POLR2A	chr7:100470241-100470268	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:100470077-100470353	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99699125..99701845-chr7:100470033..100472730,2	MCF-7	breast:
2	chr7:100433319..100435177-chr7:100470244..100472636,2	MCF-7	breast:
3	chr7:100274266..100277220-chr7:100470078..100472629,2	K562	blood:
4	chr7:100448750..100454655-chr7:100469427..100474218,6	MCF-7	breast:

No data

Variant related genes	Relation type
SRRT	TF binding region
ENSG00000172354	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000166508	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11973842	1.00[EUR][1000 genomes]
rs11974682	1.00[EUR][1000 genomes]
rs11981707	0.91[AFR][1000 genomes]
rs11983638	1.00[EUR][1000 genomes]
rs17228581	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17228609	1.00[EUR][1000 genomes]
rs17234989	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17881553	1.00[EUR][1000 genomes]
rs17885823	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking 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 miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100461800-100471400	Weak transcription	HepG2	liver
2	chr7:100465600-100471800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:100465600-100471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:100465600-100471800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:100465600-100472000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:100465800-100472000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:100466000-100471600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:100466000-100471800	Weak transcription	Fetal Brain Male	brain
9	chr7:100466200-100471600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100466200-100471600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:100466200-100471600	Weak transcription	Brain Germinal Matrix	brain
12	chr7:100466200-100472000	Weak transcription	Fetal Kidney	kidney
13	chr7:100466400-100471600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:100466400-100471600	Weak transcription	Right Atrium	heart
15	chr7:100466400-100471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:100466400-100471800	Weak transcription	Fetal Heart	heart
17	chr7:100466600-100471000	Strong transcription	Spleen	Spleen
18	chr7:100466600-100471400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:100466600-100471600	Weak transcription	Fetal Brain Female	brain
20	chr7:100466600-100471800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:100466600-100471800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:100466600-100471800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:100466600-100471800	Weak transcription	Primary B cells from cord blood	blood
24	chr7:100466600-100472000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:100466800-100471400	Weak transcription	Stomach Mucosa	stomach
26	chr7:100466800-100471600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:100466800-100471600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:100466800-100471800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:100467000-100470800	Weak transcription	GM12878-XiMat	blood
30	chr7:100467000-100471000	Strong transcription	NHEK	skin
31	chr7:100467000-100471400	Strong transcription	Fetal Intestine Small	intestine
32	chr7:100467000-100471400	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:100467000-100471400	Strong transcription	Fetal Stomach	stomach
34	chr7:100467000-100471400	Strong transcription	Dnd41	blood
35	chr7:100467000-100471600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:100467000-100471600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:100467000-100471600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:100467000-100471600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:100467200-100471600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:100467200-100471800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:100467200-100471800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:100467400-100471600	Strong transcription	Fetal Thymus	thymus
43	chr7:100467600-100471400	Strong transcription	Brain Cingulate Gyrus	brain
44	chr7:100467600-100471600	Strong transcription	HMEC	breast
45	chr7:100467600-100471800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:100467600-100471800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:100467600-100471800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:100467600-100471800	Strong transcription	Fetal Intestine Large	intestine
49	chr7:100467800-100470400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:100467800-100470600	Strong transcription	Brain Hippocampus Middle	brain

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