Variant report

Variant	rs72681129
Chromosome Location	chr8:103137553-103137554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:103134582-103137853	SK-N-SH	brain:	n/a	n/a
2	WRNIP1	chr8:103137280-103137634	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:103134801-103138157	GM19099	blood:	n/a	n/a
4	EBF1	chr8:103137532-103138254	GM12878	blood:	n/a	chr8:103137906-103137917

Variant related genes	Relation type
NCALD	TF binding region
MIR5680	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13250998	1.00[ASN][1000 genomes]
rs13261528	1.00[ASN][1000 genomes]
rs13278875	1.00[ASN][1000 genomes]
rs1465164	1.00[ASN][1000 genomes]
rs1465165	1.00[ASN][1000 genomes]
rs1465166	1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869130	1.00[ASN][1000 genomes]
rs16869132	1.00[ASN][1000 genomes]
rs17414892	1.00[ASN][1000 genomes]
rs17415702	1.00[ASN][1000 genomes]
rs17415729	1.00[ASN][1000 genomes]
rs17415778	1.00[ASN][1000 genomes]
rs17416694	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17496928	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[ASN][1000 genomes]
rs17500046	1.00[ASN][1000 genomes]
rs17500151	1.00[ASN][1000 genomes]
rs17500306	1.00[ASN][1000 genomes]
rs17500367	1.00[ASN][1000 genomes]
rs17506740	1.00[ASN][1000 genomes]
rs17506775	1.00[ASN][1000 genomes]
rs17507464	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17507512	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	1.00[ASN][1000 genomes]
rs34356268	1.00[ASN][1000 genomes]
rs35166521	1.00[ASN][1000 genomes]
rs35316247	1.00[ASN][1000 genomes]
rs3899035	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4483125	1.00[ASN][1000 genomes]
rs72681127	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681128	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681131	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103136400-103137600	Enhancers	Fetal Lung	lung
2	chr8:103136400-103140200	Weak transcription	NHEK	skin
3	chr8:103136600-103137600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:103136800-103137600	Enhancers	Fetal Heart	heart
5	chr8:103136800-103137600	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:103136800-103140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:103136800-103140200	Weak transcription	Osteobl	bone
8	chr8:103137000-103137600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr8:103137000-103137600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:103137000-103137600	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:103137000-103137600	Enhancers	NHDF-Ad	bronchial
12	chr8:103137000-103140200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:103137000-103140200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:103137000-103140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:103137000-103140400	Weak transcription	HSMM	muscle
16	chr8:103137000-103140400	Weak transcription	NH-A	brain
17	chr8:103137000-103140400	Weak transcription	NHLF	lung
18	chr8:103137000-103140600	Weak transcription	Lung	lung
19	chr8:103137000-103140600	Weak transcription	Psoas Muscle	Psoas
20	chr8:103137000-103140800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:103137000-103140800	Weak transcription	Left Ventricle	heart
22	chr8:103137000-103140800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:103137000-103140800	Weak transcription	Right Atrium	heart
24	chr8:103137200-103137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:103137200-103137600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr8:103137200-103137600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:103137200-103137600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:103137200-103137600	Enhancers	Fetal Stomach	stomach
29	chr8:103137200-103137800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:103137200-103140200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:103137200-103140200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:103137400-103137600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:103137400-103137600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:103137400-103137800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:103137400-103138000	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:103137400-103138000	Enhancers	Stomach Smooth Muscle	stomach
37	chr8:103137400-103139000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:103137400-103139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:103137400-103140200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:103137400-103140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:103137400-103140200	Weak transcription	Esophagus	oesophagus
42	chr8:103137400-103140200	Weak transcription	Fetal Kidney	kidney
43	chr8:103137400-103140200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:103137400-103140800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:103137400-103140800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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