Variant report

Variant	rs71417224
Chromosome Location	chr2:153264728-153264729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:
2	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
3	chr2:153264190..153266541-chr2:153270663..153273065,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12991203	1.00[ASN][1000 genomes]
rs13015675	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016534	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029667	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13034458	1.00[ASN][1000 genomes]
rs13034520	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34416306	1.00[ASN][1000 genomes]
rs34974542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35588394	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35873507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71417223	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:86 , 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	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:153257600-153266800	Enhancers	HepG2	liver
6	chr2:153257800-153268200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:153259200-153266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:153259200-153266600	Weak transcription	Right Ventricle	heart
9	chr2:153261400-153265000	Enhancers	Brain Angular Gyrus	brain
10	chr2:153261400-153265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:153261800-153266400	Weak transcription	Liver	Liver
12	chr2:153261800-153268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:153262400-153266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:153262600-153264800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:153262800-153265000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:153262800-153265200	Enhancers	Fetal Lung	lung
17	chr2:153262800-153266400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:153263000-153268800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:153263400-153264800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:153263800-153264800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:153263800-153265000	Enhancers	Fetal Brain Female	brain
22	chr2:153263800-153265200	Enhancers	Fetal Brain Male	brain
23	chr2:153263800-153268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:153264000-153268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:153264200-153265000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:153264200-153265000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:153264200-153265000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:153264200-153265200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:153264200-153265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:153264200-153266000	Weak transcription	HMEC	breast
31	chr2:153264200-153266600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:153264200-153266600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:153264200-153266600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:153264200-153268000	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:153264200-153268400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:153264200-153268800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:153264400-153264800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:153264400-153265000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:153264400-153266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:153264400-153266400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:153264400-153266600	Enhancers	Brain Hippocampus Middle	brain
43	chr2:153264400-153266600	Weak transcription	Osteobl	bone
44	chr2:153264400-153267000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:153264400-153267000	Weak transcription	HUVEC	blood vessel
46	chr2:153264400-153268400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:153264400-153269400	Weak transcription	HSMMtube	muscle
48	chr2:153264400-153269600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:153264400-153270200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:153264400-153271200	Weak transcription	Aorta	Aorta

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