Variant report

Variant	rs4916361
Chromosome Location	chr1:173438673-173438674
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173437085..173438756-chr1:173445689..173447511,2	MCF-7	breast:
2	chr1:173437373..173440361-chr1:173444583..173446668,3	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10753081	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10912617	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10912618	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140760	0.83[ASN][1000 genomes]
rs4255417	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4276950	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4325171	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4382766	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4611	0.85[ASN][1000 genomes]
rs4916220	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916355	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4916358	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4916359	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4916362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55654074	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6425231	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6425233	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6696012	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702835	0.84[ASN][1000 genomes]
rs7314	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7537938	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7540065	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7556003	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9425718	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425719	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425723	0.94[ASN][1000 genomes]
rs9425724	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:173423800-173442400	Weak transcription	NH-A	brain
3	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:173430400-173439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:173430400-173442400	Weak transcription	Gastric	stomach
7	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
8	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
9	chr1:173430600-173438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:173430600-173439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:173430600-173442600	Weak transcription	Aorta	Aorta
13	chr1:173430600-173443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:173430800-173439400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:173430800-173439800	Weak transcription	Fetal Stomach	stomach
17	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:173431000-173438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:173431000-173439000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:173431000-173439200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:173431000-173439600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:173431000-173439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:173431000-173439600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:173431000-173439800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:173431000-173439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:173431000-173439800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:173431000-173442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:173431000-173442400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:173431000-173442400	Weak transcription	Hela-S3	cervix
30	chr1:173431000-173442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:173431000-173442600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
33	chr1:173431200-173439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:173431200-173439800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:173431200-173442400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:173431200-173442800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:173431400-173441200	Weak transcription	HSMM	muscle
38	chr1:173431600-173442400	Weak transcription	Liver	Liver
39	chr1:173432600-173439800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:173432800-173442600	Weak transcription	Fetal Heart	heart
41	chr1:173433000-173439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:173433000-173442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:173433200-173444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:173433400-173442800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:173433800-173440000	Weak transcription	Fetal Lung	lung
46	chr1:173435600-173442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:173435800-173442000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:173436400-173439000	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr1:173436400-173442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:173436600-173439800	Weak transcription	Fetal Muscle Leg	muscle

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