Variant report

Variant	rs77378246
Chromosome Location	chr8:131367723-131367724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131354832..131358250-chr8:131366944..131369534,3	MCF-7	breast:
2	chr8:131367705..131370719-chr8:131454770..131456809,3	MCF-7	breast:
3	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
4	chr8:131354026..131357067-chr8:131366453..131369277,3	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv612285	chr8:131367481-131371055	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs77378246	ASAP1	cis	Esophagus Muscularis	GTEx
rs77378246	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
5	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
8	chr8:131357000-131368400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:131358000-131369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:131358800-131368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:131359000-131369000	Weak transcription	Esophagus	oesophagus
12	chr8:131359600-131368000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:131359600-131368600	Weak transcription	Liver	Liver
14	chr8:131359800-131368800	Weak transcription	Fetal Lung	lung
15	chr8:131359800-131369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:131359800-131369600	Weak transcription	Fetal Kidney	kidney
17	chr8:131360000-131368400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:131360000-131368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:131360000-131369000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:131360000-131369000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:131360000-131369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:131360000-131369400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:131360200-131369000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:131360600-131368400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:131360600-131369000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:131361200-131368600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:131361200-131368600	Weak transcription	Thymus	Thymus
28	chr8:131361400-131367800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:131361400-131368400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:131361400-131368800	Weak transcription	Placenta	Placenta
31	chr8:131361400-131368800	Weak transcription	Fetal Thymus	thymus
32	chr8:131361800-131367800	Weak transcription	Fetal Brain Female	brain
33	chr8:131362400-131368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:131362800-131369000	Weak transcription	Gastric	stomach
35	chr8:131362800-131369000	Weak transcription	Small Intestine	intestine
36	chr8:131363000-131368000	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:131363000-131368400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:131363200-131368600	Weak transcription	Fetal Stomach	stomach
39	chr8:131363200-131368800	Weak transcription	Psoas Muscle	Psoas
40	chr8:131363400-131368400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:131363400-131369000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:131363600-131368000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:131363600-131368200	Weak transcription	Adipose Nuclei	Adipose
44	chr8:131363600-131368800	Weak transcription	Fetal Intestine Large	intestine
45	chr8:131364000-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:131364200-131368000	Weak transcription	HepG2	liver
47	chr8:131364200-131368400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:131364400-131368800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:131364600-131368400	Weak transcription	Ovary	ovary
50	chr8:131364800-131368000	Weak transcription	Brain Cingulate Gyrus	brain

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