Variant report

Variant	rs4941928
Chromosome Location	chr13:40075238-40075239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1040962	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182780	0.86[CEU][hapmap]
rs4569130	0.85[CEU][hapmap]
rs6563706	0.85[CEU][hapmap]
rs6563708	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs6563710	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319652	0.86[CEU][hapmap]
rs7334760	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7337916	0.85[CEU][hapmap]
rs737645	0.85[CEU][hapmap]
rs7996782	0.85[CEU][hapmap]
rs7998182	0.86[CEU][hapmap]
rs9315692	0.80[AMR][1000 genomes]
rs943568	0.85[CEU][hapmap]
rs9532382	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9532383	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs9548779	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs9566446	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576810	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40061600-40081000	Weak transcription	Osteobl	bone
2	chr13:40064800-40081200	Weak transcription	HSMMtube	muscle
3	chr13:40067800-40078400	Enhancers	Fetal Heart	heart
4	chr13:40068400-40080800	Weak transcription	Fetal Brain Female	brain
5	chr13:40069200-40080400	Weak transcription	Aorta	Aorta
6	chr13:40071400-40075800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:40071400-40077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:40071800-40075600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:40071800-40076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:40072600-40075800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:40073000-40075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:40073000-40076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:40073000-40076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:40073000-40076400	Enhancers	Psoas Muscle	Psoas
15	chr13:40073000-40076400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr13:40073000-40076600	Enhancers	Fetal Muscle Leg	muscle
17	chr13:40073000-40077400	Enhancers	Right Atrium	heart
18	chr13:40073000-40077600	Enhancers	Left Ventricle	heart
19	chr13:40073000-40081200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:40073200-40075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:40073800-40075400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:40073800-40075400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:40073800-40075800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr13:40073800-40075800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:40073800-40081200	Weak transcription	Esophagus	oesophagus
26	chr13:40073800-40084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr13:40074000-40075400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:40074000-40075400	Weak transcription	Brain Substantia Nigra	brain
29	chr13:40074000-40075600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:40074000-40076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:40074000-40077200	Weak transcription	Spleen	Spleen
32	chr13:40074200-40075400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:40074200-40075600	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:40074200-40075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr13:40074200-40081000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
37	chr13:40074400-40076200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:40074400-40076200	Weak transcription	Fetal Brain Male	brain
39	chr13:40074600-40080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:40075000-40076200	Enhancers	Right Ventricle	heart
41	chr13:40075000-40076400	Enhancers	Colon Smooth Muscle	Colon
42	chr13:40075000-40076400	Enhancers	Lung	lung
43	chr13:40075000-40077200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:40075000-40077800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:40075200-40075400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:40075200-40076600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:40075200-40077400	Enhancers	Ovary	ovary
48	chr13:40075200-40077600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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