Variant report

Variant	rs72658353
Chromosome Location	chr8:63931669-63931670
allele	A/T
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	MAFK	chr8:63931603-63931771	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:63925803..63927464-chr8:63930970..63933121,2	K562	blood:
2	chr8:63925216..63928918-chr8:63929188..63932470,3	K562	blood:
3	chr8:63931185..63932747-chr8:63937234..63938983,2	MCF-7	breast:

Variant related genes	Relation type
GGH	TF binding region
ENSG00000240915	Chromatin interaction
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1031552	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957265	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10957266	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10957268	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12541370	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541993	0.80[ASN][1000 genomes]
rs12543020	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12548729	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12675369	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12676348	0.98[ASN][1000 genomes]
rs12676761	0.83[AMR][1000 genomes]
rs12677953	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680223	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682385	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16929941	0.83[AMR][1000 genomes]
rs1963949	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2305558	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780128	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4317561	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404907	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737620	0.83[AMR][1000 genomes]
rs4737625	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72656537	0.83[AMR][1000 genomes]
rs72656540	0.83[AMR][1000 genomes]
rs72658339	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72658340	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72658349	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658350	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658359	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658367	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658371	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658375	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930840	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63920800-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:63922000-63932000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:63922200-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:63922600-63936600	Weak transcription	HSMM	muscle
6	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
7	chr8:63922800-63937600	Weak transcription	Fetal Thymus	thymus
8	chr8:63922800-63938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:63922800-63938000	Weak transcription	Esophagus	oesophagus
10	chr8:63922800-63939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:63922800-63950000	Weak transcription	HMEC	breast
14	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
19	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:63924200-63935600	Weak transcription	GM12878-XiMat	blood
21	chr8:63924200-63941200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:63924200-63941800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:63924400-63937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:63924800-63933800	Weak transcription	HUVEC	blood vessel
25	chr8:63924800-63935600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:63924800-63941000	Weak transcription	Fetal Intestine Small	intestine
27	chr8:63926000-63937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:63926200-63945200	Weak transcription	A549	lung
29	chr8:63926200-63949000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:63926200-63949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:63926400-63936800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:63926800-63935200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:63927000-63939800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:63928600-63936000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:63929000-63937000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:63929200-63949200	Weak transcription	Fetal Brain Male	brain
37	chr8:63929400-63945400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:63929600-63936000	Weak transcription	HepG2	liver
39	chr8:63929600-63937400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:63929800-63935600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:63930200-63935600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:63930400-63931800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:63931200-63936200	Weak transcription	Thymus	Thymus
44	chr8:63931400-63936600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:63931400-63950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:63931600-63932200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:63931600-63932200	Flanking Active TSS	Liver	Liver

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