Variant report

Variant	rs2727468
Chromosome Location	chr7:129417914-129417915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:129417655-129419103	H1-neurons	neurons:	n/a	n/a
2	ZNF143	chr7:129417785-129417978	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr7:129417066-129418797	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:129417616-129419135	H1-neurons	neurons:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129417063..129419855-chr7:129589780..129592870,4	MCF-7	breast:
2	chr7:129417115..129420067-chr7:129435011..129437145,2	MCF-7	breast:
3	chr7:129417511..129419383-chr7:129468534..129470658,2	MCF-7	breast:
4	chr7:129403367..129409123-chr7:129416069..129420416,9	MCF-7	breast:
5	chr7:129303280..129305949-chr7:129417875..129421577,3	K562	blood:
6	chr7:129417802..129420248-chr7:129504470..129507326,2	MCF-7	breast:
7	chr7:129342582..129344113-chr7:129417247..129419847,2	K562	blood:
8	chr7:129394819..129399049-chr7:129417479..129422291,4	MCF-7	breast:
9	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:
10	chr7:129417027..129423271-chr7:129428076..129437839,16	MCF-7	breast:

No data

Variant related genes	Relation type
MIR183	TF binding region
MIR96	TF binding region
ENSG00000186591	Chromatin interaction
ENSG00000212238	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10263634	1.00[YRI][hapmap]
rs6966662	1.00[YRI][hapmap]
rs9641856	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	esv1817678	chr7:129394447-129424461	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
5	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
7	esv1808977	chr7:129402158-129424461	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
8	esv1828133	chr7:129403541-129437113	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
9	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
10	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129409600-129418200	Weak transcription	Right Atrium	heart
2	chr7:129411400-129418200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:129414200-129418600	Weak transcription	A549	lung
4	chr7:129414400-129418800	Weak transcription	K562	blood
5	chr7:129416200-129418400	Weak transcription	NHEK	skin
6	chr7:129416600-129418200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr7:129416600-129419000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr7:129416800-129418000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr7:129416800-129418200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr7:129416800-129418400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr7:129416800-129418400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:129416800-129418600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr7:129417000-129418000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
14	chr7:129417000-129418200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:129417000-129418400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr7:129417000-129418400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr7:129417000-129418600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr7:129417000-129418800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr7:129417000-129419200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:129417200-129418000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:129417200-129418400	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr7:129417200-129419000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:129417200-129419200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:129417400-129418000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr7:129417600-129418000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:129417600-129418400	Weak transcription	Hela-S3	cervix
27	chr7:129417600-129418800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:129417800-129418000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr7:129417800-129418000	Flanking Active TSS	Pancreas	Pancrea
30	chr7:129417800-129418200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:129417800-129418600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr7:129417800-129418600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:129417800-129418600	Enhancers	Gastric	stomach

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