Variant report

Variant	rs971372
Chromosome Location	chr5:112623988-112623989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10055089	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10056847	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10067046	0.81[CHB][hapmap]
rs10068622	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10900683	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241198	0.95[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11741333	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11744824	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11956139	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13182478	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13182700	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13436236	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs1838204	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1838205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1873927	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34512273	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4108701	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4108702	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6594699	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7729163	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv471785	chr5:112623871-112624212	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112608000-112628200	Weak transcription	HMEC	breast
2	chr5:112610000-112628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112611000-112628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112612000-112625200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:112612200-112625200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112614200-112625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112615000-112625200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:112617800-112625400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:112617800-112628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:112618400-112628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:112618400-112628200	Weak transcription	Fetal Kidney	kidney
12	chr5:112618400-112628200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:112618400-112628400	Weak transcription	Fetal Stomach	stomach
14	chr5:112618600-112625600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:112619000-112626800	Weak transcription	Liver	Liver
16	chr5:112619000-112628600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:112619000-112628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:112619200-112625600	Weak transcription	Fetal Lung	lung
19	chr5:112619400-112624000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:112619400-112625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:112619600-112625200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:112620000-112628200	Weak transcription	Brain Anterior Caudate	brain
23	chr5:112620000-112628200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:112620400-112625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:112621600-112625200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:112622000-112625200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:112622000-112626800	Weak transcription	Right Ventricle	heart
28	chr5:112622400-112624200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112622400-112626800	Weak transcription	Fetal Heart	heart
30	chr5:112622600-112626800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:112622800-112624000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:112623200-112624000	Enhancers	Left Ventricle	heart
33	chr5:112623200-112624000	Genic enhancers	Ovary	ovary
34	chr5:112623400-112624000	Enhancers	Right Atrium	heart
35	chr5:112623400-112624000	Strong transcription	NHEK	skin
36	chr5:112623400-112624600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:112623600-112624000	Enhancers	Gastric	stomach
38	chr5:112623600-112624000	ZNF genes & repeats	Pancreas	Pancrea
39	chr5:112623800-112624000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr5:112623800-112624000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:112623800-112624000	ZNF genes & repeats	Esophagus	oesophagus
42	chr5:112623800-112624000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
43	chr5:112623800-112624000	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr5:112623800-112624000	Enhancers	Psoas Muscle	Psoas
45	chr5:112623800-112625200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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