Variant report

Variant	rs71417223
Chromosome Location	chr2:153261256-153261257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12991203	1.00[ASN][1000 genomes]
rs13015675	1.00[ASN][1000 genomes]
rs13016534	1.00[ASN][1000 genomes]
rs13026023	1.00[ASN][1000 genomes]
rs13029667	1.00[ASN][1000 genomes]
rs13034458	1.00[ASN][1000 genomes]
rs13034520	1.00[ASN][1000 genomes]
rs34416306	1.00[ASN][1000 genomes]
rs34974542	1.00[ASN][1000 genomes]
rs35588394	1.00[ASN][1000 genomes]
rs35873507	1.00[ASN][1000 genomes]
rs71417224	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
2	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:153253200-153261600	Weak transcription	HSMM	muscle
5	chr2:153253200-153261600	Weak transcription	NH-A	brain
6	chr2:153253200-153261600	Weak transcription	NHLF	lung
7	chr2:153253200-153261800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:153253200-153262800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
11	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
12	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:153253600-153261800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:153253800-153262400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:153255800-153261400	Weak transcription	Gastric	stomach
17	chr2:153257200-153263800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:153257600-153263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:153257600-153266800	Enhancers	HepG2	liver
20	chr2:153257800-153264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:153258000-153261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:153258000-153263200	Weak transcription	Osteobl	bone
24	chr2:153258600-153262200	Enhancers	Pancreas	Pancrea
25	chr2:153258600-153263600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:153259000-153261400	Weak transcription	Small Intestine	intestine
27	chr2:153259000-153261400	Weak transcription	HMEC	breast
28	chr2:153259000-153261600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:153259000-153261600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:153259000-153263600	Enhancers	Adipose Nuclei	Adipose
31	chr2:153259200-153261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:153259200-153261600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
35	chr2:153259400-153261600	Enhancers	HUVEC	blood vessel
36	chr2:153259600-153261600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:153259600-153263800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:153259600-153263800	Weak transcription	Spleen	Spleen
39	chr2:153259800-153261400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:153259800-153261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:153259800-153262800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:153259800-153263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:153260000-153261400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:153260000-153261400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:153260000-153261400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:153260000-153261600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:153260000-153261600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:153260000-153261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:153260000-153262800	Weak transcription	Fetal Brain Male	brain
50	chr2:153260000-153263600	Weak transcription	Fetal Heart	heart

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