Variant report

Variant	rs71417229
Chromosome Location	chr2:153369926-153369927
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	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:
2	chr2:153361979..153364845-chr2:153366999..153370828,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12104452	1.00[EUR][1000 genomes]
rs12987348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989840	1.00[EUR][1000 genomes]
rs12991474	1.00[EUR][1000 genomes]
rs12993239	1.00[EUR][1000 genomes]
rs12999189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011850	1.00[EUR][1000 genomes]
rs13018434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021931	1.00[EUR][1000 genomes]
rs13027160	1.00[EUR][1000 genomes]
rs13027356	1.00[EUR][1000 genomes]
rs13029667	1.00[EUR][1000 genomes]
rs13034458	1.00[EUR][1000 genomes]
rs16831151	0.89[ASN][1000 genomes]
rs16831161	1.00[ASN][1000 genomes]
rs34300140	1.00[EUR][1000 genomes]
rs34332337	1.00[EUR][1000 genomes]
rs34416306	1.00[EUR][1000 genomes]
rs34457645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34504342	1.00[EUR][1000 genomes]
rs34722196	1.00[EUR][1000 genomes]
rs35199259	1.00[EUR][1000 genomes]
rs35472114	1.00[EUR][1000 genomes]
rs35804350	1.00[EUR][1000 genomes]
rs36108117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59579926	0.89[ASN][1000 genomes]
rs6434046	1.00[EUR][1000 genomes]
rs6731516	1.00[EUR][1000 genomes]
rs6745613	1.00[EUR][1000 genomes]
rs71417227	1.00[EUR][1000 genomes]
rs73016010	1.00[EUR][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	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	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
4	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
2	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
3	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
5	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:153365400-153370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:153365400-153377200	Weak transcription	Small Intestine	intestine
8	chr2:153365600-153370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:153365600-153370200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:153365600-153370200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:153365600-153375200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
13	chr2:153367000-153370200	Enhancers	Brain Hippocampus Middle	brain
14	chr2:153368200-153370800	Enhancers	NHEK	skin
15	chr2:153368400-153374600	Enhancers	Brain Substantia Nigra	brain
16	chr2:153368600-153375200	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:153368800-153370400	Weak transcription	Psoas Muscle	Psoas
18	chr2:153369000-153370800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:153369200-153370800	Enhancers	Hela-S3	cervix
20	chr2:153369200-153372600	Enhancers	Brain Angular Gyrus	brain
21	chr2:153369400-153370800	Enhancers	Osteobl	bone
22	chr2:153369400-153371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:153369400-153371000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:153369400-153371000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:153369400-153371000	Enhancers	HMEC	breast
26	chr2:153369400-153371000	Enhancers	HUVEC	blood vessel
27	chr2:153369600-153370400	Enhancers	NH-A	brain
28	chr2:153369600-153370600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:153369600-153370800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:153369600-153371000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:153369600-153372400	Enhancers	Brain Anterior Caudate	brain
32	chr2:153369800-153370400	Flanking Active TSS	A549	lung
33	chr2:153369800-153370600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:153369800-153370600	Enhancers	HSMM	muscle
35	chr2:153369800-153370800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:153369800-153371000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:153369800-153371000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:153369800-153371000	Enhancers	NHDF-Ad	bronchial
39	chr2:153369800-153372200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:153369800-153372200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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