Variant report

Variant	rs71417227
Chromosome Location	chr2:153325172-153325173
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153190311..153192513-chr2:153322864..153325186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12104452	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12987348	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12989840	1.00[EUR][1000 genomes]
rs12991474	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993239	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12999189	1.00[EUR][1000 genomes]
rs13011850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13021931	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023943	0.81[AFR][1000 genomes]
rs13027160	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027356	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13029667	1.00[EUR][1000 genomes]
rs13034458	1.00[EUR][1000 genomes]
rs34300140	1.00[EUR][1000 genomes]
rs34332337	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34416306	1.00[EUR][1000 genomes]
rs34457645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34504342	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34722196	1.00[EUR][1000 genomes]
rs35199259	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35472114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35804350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36108117	1.00[EUR][1000 genomes]
rs6434046	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731516	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745613	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417229	1.00[EUR][1000 genomes]
rs73016010	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
2	chr2:153318400-153327200	Enhancers	HepG2	liver
3	chr2:153319400-153325600	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:153320200-153325600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:153320600-153328400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:153320800-153329400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
8	chr2:153321000-153326200	Enhancers	Fetal Lung	lung
9	chr2:153321000-153329600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:153321200-153325400	Enhancers	A549	lung
11	chr2:153321200-153326400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:153321200-153326800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:153321400-153326200	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:153321600-153326800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:153321800-153325400	Enhancers	Adipose Nuclei	Adipose
16	chr2:153321800-153325600	Enhancers	Brain Anterior Caudate	brain
17	chr2:153322000-153325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:153322000-153325200	Weak transcription	HUVEC	blood vessel
19	chr2:153322000-153325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153322000-153325600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:153322200-153325400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:153322400-153325600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:153322400-153326800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:153322600-153325400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:153322600-153326200	Enhancers	Primary B cells from cord blood	blood
26	chr2:153322800-153325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:153322800-153329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:153323000-153326000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:153323200-153325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:153323200-153325600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:153323200-153326200	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:153323200-153326600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:153323400-153325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:153323400-153325400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:153323400-153326000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:153323400-153326200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:153323400-153326200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:153323600-153325600	Enhancers	Stomach Mucosa	stomach
39	chr2:153323600-153325600	Weak transcription	NH-A	brain
40	chr2:153323600-153325800	Enhancers	Fetal Kidney	kidney
41	chr2:153323600-153326200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:153324000-153325200	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:153324000-153325400	Weak transcription	Osteobl	bone
44	chr2:153324000-153325600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:153324200-153325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:153324200-153325200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:153324200-153325400	Weak transcription	Fetal Brain Female	brain
48	chr2:153324200-153325400	Enhancers	NHEK	skin
49	chr2:153324200-153325600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:153324200-153325600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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