Variant report

Variant	rs57504746
Chromosome Location	chr9:97506732-97506733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10121865	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10122127	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10217427	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732405	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10732406	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10733755	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10739986	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10761355	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10761359	0.88[AMR][1000 genomes]
rs10821405	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10993348	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1228614	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12339275	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340251	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344537	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352276	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12553690	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684703	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13285343	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16911661	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810772	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs181488	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs187163	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193292	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119954	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2165716	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2304884	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2406899	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs242259	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2584803	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2584804	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2767403	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2767404	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28647286	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34940574	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356122	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356123	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356124	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356126	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356127	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs356129	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356130	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356134	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356135	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs356137	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356138	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356140	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356142	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs356143	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356146	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374708	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376902	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs380205	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384039	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3858087	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858088	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs389365	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396538	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397617	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400231	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405110	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415016	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs418764	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439052	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4437717	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537361	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471161	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744377	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744379	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4744380	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4744383	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55795862	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914113	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55926255	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58042095	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479565	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6479570	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6479571	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6479572	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6479574	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs672012	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67625382	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025234	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7028317	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030617	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031172	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7031518	0.84[AMR][1000 genomes]
rs7041982	0.83[EUR][1000 genomes]
rs7045387	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7047864	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs732141	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7853126	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7861358	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7862700	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs913182	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9409806	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041922	chr9:97444976-97536753	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97489600-97524800	Weak transcription	Esophagus	oesophagus
2	chr9:97489800-97508000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr9:97489800-97511000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:97489800-97511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:97489800-97511600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:97489800-97521600	Weak transcription	Fetal Thymus	thymus
7	chr9:97489800-97522000	Weak transcription	Thymus	Thymus
8	chr9:97489800-97522400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:97490000-97510600	Weak transcription	Primary T cells from cord blood	blood
10	chr9:97490000-97510800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:97490000-97510800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:97490000-97510800	Weak transcription	Fetal Brain Female	brain
13	chr9:97490000-97510800	Weak transcription	NHDF-Ad	bronchial
14	chr9:97490000-97511600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:97490000-97511600	Weak transcription	Osteobl	bone
16	chr9:97490000-97512200	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:97490000-97519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:97490000-97521600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:97490200-97508800	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:97490200-97510800	Weak transcription	GM12878-XiMat	blood
21	chr9:97490200-97511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:97490200-97511000	Weak transcription	NHEK	skin
23	chr9:97490200-97512200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr9:97490200-97519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:97490400-97508800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:97490400-97508800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:97490400-97511400	Weak transcription	Hela-S3	cervix
28	chr9:97490400-97511600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:97490600-97510800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:97491000-97511000	Weak transcription	Dnd41	blood
31	chr9:97491400-97507800	Weak transcription	Brain Germinal Matrix	brain
32	chr9:97496400-97511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:97496800-97511600	Weak transcription	Left Ventricle	heart
34	chr9:97497000-97510000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:97497000-97510800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:97497000-97511400	Weak transcription	Adipose Nuclei	Adipose
37	chr9:97497000-97511600	Weak transcription	Psoas Muscle	Psoas
38	chr9:97497000-97522000	Weak transcription	Placenta	Placenta
39	chr9:97497200-97522200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:97497600-97511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:97499400-97508800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:97499400-97511600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:97499600-97508000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:97500200-97508400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:97502800-97518800	Weak transcription	K562	blood
46	chr9:97503000-97509200	Weak transcription	Brain Anterior Caudate	brain
47	chr9:97503000-97511000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr9:97503000-97511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:97503000-97511400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:97503200-97522400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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