Variant report

Variant	rs73417935
Chromosome Location	chr8:131357513-131357514
allele	A/C
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	chr8:131357340-131357542	HepG2	liver:	n/a	n/a
2	MAFK	chr8:131357213-131357535	IMR90	lung:	n/a	n/a
3	MAFK	chr8:131357335-131357535	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:
2	chr8:131354832..131358250-chr8:131366944..131369534,3	MCF-7	breast:
3	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56928931	0.83[AFR][1000 genomes]
rs57129132	0.83[AFR][1000 genomes]
rs59496740	0.83[AFR][1000 genomes]
rs73409308	1.00[AFR][1000 genomes]
rs73409312	1.00[AFR][1000 genomes]
rs73409315	0.83[AFR][1000 genomes]
rs73409341	1.00[AFR][1000 genomes]
rs73409344	1.00[AFR][1000 genomes]
rs73409350	1.00[AFR][1000 genomes]
rs73409355	0.83[AFR][1000 genomes]
rs73417906	1.00[AFR][1000 genomes]
rs73417940	0.83[AFR][1000 genomes]
rs73417948	1.00[AFR][1000 genomes]
rs73417951	1.00[AFR][1000 genomes]
rs73425601	1.00[AFR][1000 genomes]
rs73427323	1.00[AFR][1000 genomes]
rs73427331	1.00[AFR][1000 genomes]
rs73427358	0.83[AFR][1000 genomes]
rs73427361	0.83[AFR][1000 genomes]
rs73427414	1.00[AFR][1000 genomes]
rs73427426	1.00[AFR][1000 genomes]
rs73427428	1.00[AFR][1000 genomes]
rs73427429	1.00[AFR][1000 genomes]
rs73427430	1.00[AFR][1000 genomes]
rs73427432	1.00[AFR][1000 genomes]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
4	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
8	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
12	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
13	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:131348600-131358800	Weak transcription	Gastric	stomach
16	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:131351200-131357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:131351200-131357800	Weak transcription	HSMMtube	muscle
20	chr8:131351200-131358000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:131351400-131358000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:131351600-131359000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:131353800-131357800	Weak transcription	Fetal Thymus	thymus
24	chr8:131353800-131367600	Weak transcription	Dnd41	blood
25	chr8:131354000-131358000	Weak transcription	HMEC	breast
26	chr8:131354000-131358600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:131354200-131360000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:131354400-131358400	Weak transcription	Thymus	Thymus
29	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
30	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
32	chr8:131354600-131357800	Weak transcription	NHEK	skin
33	chr8:131354600-131358200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:131354600-131358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:131354600-131359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:131354800-131359400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:131354800-131359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:131354800-131359800	Enhancers	Primary T cells from cord blood	blood
39	chr8:131354800-131361200	Weak transcription	Fetal Brain Female	brain
40	chr8:131354800-131363400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:131355000-131362400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:131355200-131359600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:131355200-131361600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:131355200-131362400	Weak transcription	HepG2	liver
46	chr8:131355400-131357800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:131355400-131358200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:131355400-131360200	Weak transcription	Aorta	Aorta
49	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum

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