Variant report

Variant	rs10930530
Chromosome Location	chr2:173073555-173073556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173072751..173074483-chr2:173077609..173079587,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10803868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930526	0.86[EUR][1000 genomes]
rs10930527	0.85[ASN][1000 genomes]
rs10930528	0.87[ASN][1000 genomes]
rs10930529	0.87[ASN][1000 genomes]
rs10930531	0.89[ASN][1000 genomes]
rs10930532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930535	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11684103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614868	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617862	0.85[ASN][1000 genomes]
rs12692997	0.88[EUR][1000 genomes]
rs12990778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995943	0.88[ASN][1000 genomes]
rs13019357	1.00[ASN][1000 genomes]
rs13034707	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034957	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13430020	0.98[EUR][1000 genomes]
rs1542676	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812500	0.98[ASN][1000 genomes]
rs1906181	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054832	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357320	0.87[ASN][1000 genomes]
rs2884154	0.90[ASN][1000 genomes]
rs4467239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4524096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571029	1.00[ASN][1000 genomes]
rs4583429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972710	0.87[ASN][1000 genomes]
rs4972711	0.96[ASN][1000 genomes]
rs4972712	0.96[ASN][1000 genomes]
rs4972713	0.87[ASN][1000 genomes]
rs4972715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972716	0.89[ASN][1000 genomes]
rs4972717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972724	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972725	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972728	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55919266	1.00[ASN][1000 genomes]
rs62168965	0.96[ASN][1000 genomes]
rs6433336	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433337	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433338	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433339	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433340	0.84[ASN][1000 genomes]
rs6705155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708636	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6709514	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717806	0.89[ASN][1000 genomes]
rs6743328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575468	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963307	0.90[ASN][1000 genomes]
rs963308	1.00[ASN][1000 genomes]
rs9750439	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173065400-173073600	Weak transcription	NHEK	skin
2	chr2:173070000-173077800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:173070200-173078600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:173070600-173076800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:173070600-173077600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:173071800-173074600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:173072000-173074800	Enhancers	Fetal Intestine Small	intestine
8	chr2:173072400-173074400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:173072400-173074800	Enhancers	Fetal Intestine Large	intestine
10	chr2:173072400-173075800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:173072600-173074400	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:173072600-173074600	Enhancers	Ovary	ovary
13	chr2:173072600-173084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:173072800-173073600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:173072800-173074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:173072800-173075600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:173073000-173073800	Enhancers	HUVEC	blood vessel
18	chr2:173073000-173074800	Enhancers	HMEC	breast
19	chr2:173073200-173074000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:173073200-173074000	Enhancers	Right Atrium	heart
21	chr2:173073200-173074000	Enhancers	Small Intestine	intestine
22	chr2:173073200-173074000	Enhancers	HSMM	muscle
23	chr2:173073200-173074200	Enhancers	Fetal Lung	lung
24	chr2:173073200-173074400	Enhancers	Fetal Thymus	thymus
25	chr2:173073200-173074600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:173073200-173074600	Enhancers	Placenta	Placenta
27	chr2:173073200-173074600	Enhancers	Spleen	Spleen
28	chr2:173073200-173074600	Enhancers	Osteobl	bone
29	chr2:173073200-173074800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:173073200-173074800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:173073400-173074000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:173073400-173074000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:173073400-173074200	Enhancers	HSMMtube	muscle
34	chr2:173073400-173074200	Weak transcription	NHLF	lung
35	chr2:173073400-173074600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:173073400-173074600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:173073400-173076200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:173073400-173080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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