Variant report

Variant	rs1910907
Chromosome Location	chr4:76885871-76885872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76884899..76887580-chr4:76953090..76955387,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10222911	1.00[ASN][1000 genomes]
rs1050176	0.97[ASN][1000 genomes]
rs10856871	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097192	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500200	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12511861	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1554015	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001275	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001284	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2869461	0.97[ASN][1000 genomes]
rs28703679	1.00[ASN][1000 genomes]
rs3733236	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859412	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55964684	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56039229	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56105413	1.00[EUR][1000 genomes]
rs56316945	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58909712	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59559903	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61279846	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532084	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66477189	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67210456	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67297326	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67413521	0.85[ASN][1000 genomes]
rs67687266	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6828744	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834291	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847716	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857358	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72651379	0.92[EUR][1000 genomes]
rs72651387	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349626	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670156	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7671125	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696286	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1910907	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
2	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:76867400-76886600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:76867800-76888800	Strong transcription	Liver	Liver
8	chr4:76867800-76900000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:76867800-76903800	Strong transcription	Fetal Thymus	thymus
10	chr4:76868000-76886400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:76868000-76886600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:76868000-76899800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:76868000-76903000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:76868000-76903000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr4:76868000-76903800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:76868200-76903400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:76868200-76903600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:76868400-76903600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:76868400-76903800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:76868400-76903800	Strong transcription	Placenta	Placenta
21	chr4:76869200-76900200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:76870000-76886800	Strong transcription	Primary T cells from cord blood	blood
23	chr4:76870800-76897600	Strong transcription	Brain Germinal Matrix	brain
24	chr4:76871600-76886600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:76872200-76902800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:76876600-76886600	Strong transcription	Primary B cells from cord blood	blood
27	chr4:76876800-76895200	Strong transcription	Fetal Kidney	kidney
28	chr4:76880000-76886600	Weak transcription	Fetal Heart	heart
29	chr4:76880600-76893400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:76881200-76886200	Weak transcription	Gastric	stomach
31	chr4:76881200-76886400	Weak transcription	Pancreas	Pancrea
32	chr4:76881200-76886600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:76881200-76886600	Weak transcription	Esophagus	oesophagus
34	chr4:76881600-76886600	Weak transcription	Right Ventricle	heart
35	chr4:76881800-76886600	Weak transcription	Spleen	Spleen
36	chr4:76882000-76886800	Weak transcription	Lung	lung
37	chr4:76882400-76898200	Weak transcription	Aorta	Aorta
38	chr4:76882800-76887000	Weak transcription	Colonic Mucosa	Colon
39	chr4:76883000-76886800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:76883800-76887800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:76883800-76899800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr4:76883800-76903000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr4:76884000-76902800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:76884200-76886400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr4:76884200-76899600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr4:76884200-76899800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:76884200-76902800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:76884200-76903800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr4:76884400-76888000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr4:76884400-76893000	Strong transcription	Brain Anterior Caudate	brain

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