Variant report

Variant	rs17302307
Chromosome Location	chr2:173866979-173866980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1011345	0.97[ASN][1000 genomes]
rs11687902	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885983	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12616563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12624093	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12693015	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12693016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12996130	0.88[ASN][1000 genomes]
rs13000260	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13413796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1446981	0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs1446982	0.87[EUR][1000 genomes]
rs16861125	0.97[ASN][1000 genomes]
rs16861148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16861173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17374295	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823151	0.92[ASN][1000 genomes]
rs1979186	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2121483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2166588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2242079	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2258918	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2305461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2592944	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2602217	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2676521	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3754753	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769225	0.97[ASN][1000 genomes]
rs3769226	0.97[ASN][1000 genomes]
rs3769227	0.93[ASN][1000 genomes]
rs3769228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3820841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3820843	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820844	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66487735	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718902	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72896070	0.95[ASN][1000 genomes]
rs72909440	0.97[ASN][1000 genomes]
rs72909444	0.97[ASN][1000 genomes]
rs72909446	0.97[ASN][1000 genomes]
rs7585997	0.82[ASN][1000 genomes]
rs7603772	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173852400-173868000	Weak transcription	Gastric	stomach
3	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
5	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173860600-173868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173860800-173877800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:173861000-173867400	Weak transcription	Stomach Mucosa	stomach
10	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
11	chr2:173861200-173867400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:173861400-173867800	Strong transcription	Liver	Liver
13	chr2:173861600-173867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:173861800-173868000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:173862200-173867000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:173862200-173881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:173862200-173883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:173862400-173870600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:173862800-173868600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:173862800-173874000	Weak transcription	Small Intestine	intestine
21	chr2:173863400-173871600	Weak transcription	Right Atrium	heart
22	chr2:173863800-173867400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:173864600-173870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:173864800-173867000	Weak transcription	Fetal Lung	lung
25	chr2:173865000-173868200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:173865200-173867000	Enhancers	Ovary	ovary
27	chr2:173865600-173868000	Weak transcription	Pancreas	Pancrea
28	chr2:173866000-173867400	Enhancers	HepG2	liver
29	chr2:173866000-173867800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:173866400-173867000	Enhancers	Fetal Heart	heart
31	chr2:173866600-173867800	Weak transcription	Psoas Muscle	Psoas
32	chr2:173866600-173868000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:173866600-173868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:173866800-173867000	Enhancers	Fetal Kidney	kidney
35	chr2:173866800-173867000	Enhancers	A549	lung
36	chr2:173866800-173867600	Enhancers	Hela-S3	cervix
37	chr2:173866800-173869000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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