Variant report

Variant	rs2130503
Chromosome Location	chr1:212269521-212269522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10779568	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10863939	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11119839	0.95[ASN][1000 genomes]
rs11119840	0.95[ASN][1000 genomes]
rs1316820	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1578992	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1578993	0.83[ASN][1000 genomes]
rs1806360	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1933593	0.82[ASN][1000 genomes]
rs2251398	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2358440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884428	0.82[ASN][1000 genomes]
rs2884457	0.86[ASN][1000 genomes]
rs2970592	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970599	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2993529	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2993531	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2993533	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2993534	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3010003	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3010006	0.86[EUR][1000 genomes]
rs3010023	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3010024	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3738449	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6657728	0.99[ASN][1000 genomes]
rs7522330	0.87[ASN][1000 genomes]
rs7550754	0.84[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2130503	INTS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212253000-212270800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:212254800-212278000	Weak transcription	NHDF-Ad	bronchial
5	chr1:212256000-212271000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:212256400-212271200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:212256400-212278600	Weak transcription	NHLF	lung
8	chr1:212261800-212271800	Weak transcription	Spleen	Spleen
9	chr1:212262000-212271800	Weak transcription	Hela-S3	cervix
10	chr1:212262000-212276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:212262000-212283000	Weak transcription	NH-A	brain
12	chr1:212262000-212284400	Weak transcription	Osteobl	bone
13	chr1:212262200-212272200	Weak transcription	Gastric	stomach
14	chr1:212262200-212273600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:212262200-212273800	Weak transcription	NHEK	skin
16	chr1:212262200-212279600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:212262600-212273800	Weak transcription	HMEC	breast
19	chr1:212263000-212275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:212263400-212271600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:212263400-212274000	Weak transcription	Fetal Lung	lung
22	chr1:212263400-212278200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:212263600-212269800	Weak transcription	Primary T cells from cord blood	blood
24	chr1:212263600-212270200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:212263600-212273800	Weak transcription	HUVEC	blood vessel
26	chr1:212264000-212273800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:212264400-212282400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:212265000-212270400	Weak transcription	GM12878-XiMat	blood
29	chr1:212265200-212269800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:212265200-212270200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:212265200-212270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:212265200-212271200	Weak transcription	K562	blood
33	chr1:212265200-212273000	Weak transcription	HepG2	liver
34	chr1:212266000-212273200	Weak transcription	A549	lung
35	chr1:212266000-212274200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:212266200-212271200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:212266400-212272000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:212267000-212269800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:212267000-212271200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:212267000-212273800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:212267200-212270400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:212267200-212271000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:212267200-212271200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:212267200-212271200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:212267200-212271200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:212267200-212271200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:212267200-212271400	Weak transcription	Thymus	Thymus
48	chr1:212267200-212271600	Weak transcription	Fetal Stomach	stomach
49	chr1:212267200-212271800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:212267200-212273600	Weak transcription	H1 Cell Line	embryonic stem cell

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