Variant report

Variant	rs2973120
Chromosome Location	chr5:37847859-37847860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37811779..37814008-chr5:37847060..37848825,2	K562	blood:
2	chr5:37847283..37849747-chr5:37922255..37924001,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10060017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10473069	1.00[CHB][hapmap]
rs11111	1.00[CHB][hapmap]
rs13361833	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1423448	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1981844	0.90[JPT][hapmap]
rs2075680	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075681	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2366621	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2910692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910698	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910699	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910700	0.90[ASN][1000 genomes]
rs2910701	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2910705	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2910706	0.83[ASN][1000 genomes]
rs2910707	0.84[ASN][1000 genomes]
rs2910749	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910757	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2910797	1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[ASN][1000 genomes]
rs2973033	0.84[JPT][hapmap]
rs2973035	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973045	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2973046	0.83[ASN][1000 genomes]
rs2973047	0.84[ASN][1000 genomes]
rs2973107	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973112	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973119	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2973122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975100	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67720228	0.83[ASN][1000 genomes]
rs884344	1.00[CHB][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs9292674	1.00[CHB][hapmap]

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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37841000-37850400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:37841200-37848000	Weak transcription	Psoas Muscle	Psoas
3	chr5:37841400-37848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:37842600-37848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:37843800-37848800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:37844600-37853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:37845400-37848000	Weak transcription	Fetal Stomach	stomach
8	chr5:37846200-37848600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:37846400-37848600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:37846400-37848800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:37846400-37848800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:37846400-37850800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:37846600-37848600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:37846600-37848600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:37846600-37849200	Enhancers	NHEK	skin
16	chr5:37846800-37848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:37846800-37848600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:37846800-37848800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:37846800-37849600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:37847000-37849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:37847200-37848800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:37847200-37849600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:37847200-37851200	Enhancers	Osteobl	bone
24	chr5:37847200-37851400	Enhancers	NHDF-Ad	bronchial
25	chr5:37847400-37848000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:37847400-37848400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:37847400-37848600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:37847400-37848800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:37847400-37851400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:37847600-37848400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:37847600-37848400	Enhancers	HSMM	muscle
32	chr5:37847600-37848600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:37847600-37848600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:37847600-37848600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:37847600-37849400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:37847600-37851000	Enhancers	HMEC	breast
37	chr5:37847800-37848200	Enhancers	NHLF	lung
38	chr5:37847800-37848400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:37847800-37848400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:37847800-37848400	Enhancers	Brain Hippocampus Middle	brain
41	chr5:37847800-37848400	Enhancers	HSMMtube	muscle
42	chr5:37847800-37848600	Enhancers	A549	lung
43	chr5:37847800-37848600	Enhancers	HepG2	liver
44	chr5:37847800-37848600	Enhancers	NH-A	brain
45	chr5:37847800-37848800	Enhancers	GM12878-XiMat	blood
46	chr5:37847800-37851000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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