Variant report

Variant	rs4581302
Chromosome Location	chr1:197116527-197116528
allele	A/G
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	FOXM1	chr1:197115269-197116534	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr1:197113561-197116550	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197112577..197117711-chr1:197168565..197172597,7	K562	blood:
2	chr1:197102908..197105277-chr1:197113696..197116665,2	MCF-7	breast:
3	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:
4	chr1:197115985..197117514-chr1:197120837..197122642,2	MCF-7	breast:

Variant related genes	Relation type
ASPM	TF binding region
ENSG00000066279	Chromatin interaction
ENSG00000134376	Chromatin interaction
ENSG00000177888	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1127661	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17514309	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17514324	0.87[EUR][1000 genomes]
rs17549312	0.89[EUR][1000 genomes]
rs17549360	0.87[EUR][1000 genomes]
rs17549430	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17550014	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17550411	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17662710	0.87[EUR][1000 genomes]
rs1794011	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2878749	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3737110	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3762271	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41304071	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41308365	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41310911	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41310925	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41310927	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4244139	0.89[ASN][1000 genomes]
rs4628533	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55857606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56084994	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56111948	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56387334	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5996	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61819074	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819087	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819088	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819089	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61819095	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819096	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819114	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61819115	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819116	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819117	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819118	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819119	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819121	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819122	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61819124	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61820800	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6690730	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs698859	0.87[EUR][1000 genomes]
rs72736469	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72736474	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72738635	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72738637	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72738645	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72738652	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7517428	0.87[EUR][1000 genomes]
rs857024	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs857025	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs955927	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197113400-197117000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:197114000-197116600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:197114000-197116600	Active TSS	Hela-S3	cervix
4	chr1:197114000-197116600	Active TSS	HMEC	breast
5	chr1:197114000-197116600	Active TSS	K562	blood
6	chr1:197114200-197116600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:197114200-197116600	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:197114800-197116600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:197114800-197116600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:197115200-197116600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:197115400-197116600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:197115400-197116600	Active TSS	Primary T cells from cord blood	blood
13	chr1:197115400-197116600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr1:197115600-197116600	Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:197115600-197116600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:197115800-197116600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:197115800-197116600	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:197116200-197116600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:197116200-197116600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr1:197116200-197116600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:197116200-197116600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:197116200-197116600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:197116200-197116800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:197116200-197117000	Flanking Active TSS	Dnd41	blood
25	chr1:197116400-197116600	Enhancers	Primary B cells from cord blood	blood
26	chr1:197116400-197116600	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:197116400-197116600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:197116400-197116600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:197116400-197116600	Active TSS	Adipose Nuclei	Adipose
30	chr1:197116400-197116600	Enhancers	Placenta	Placenta
31	chr1:197116400-197116600	Weak transcription	HepG2	liver
32	chr1:197116400-197116800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:197116400-197116800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:197116400-197116800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:197116400-197116800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:197116400-197116800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:197116400-197118200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:197116400-197118400	Weak transcription	NHDF-Ad	bronchial
39	chr1:197116400-197119400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:197116400-197119600	Weak transcription	Liver	Liver
41	chr1:197116400-197119800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:197116400-197120600	Weak transcription	Fetal Intestine Large	intestine
43	chr1:197116400-197123400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:197116400-197126800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:197116400-197126800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:197116400-197127000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:197116400-197127400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:197116400-197127400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:197116400-197127400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:197116400-197127600	Weak transcription	Brain Germinal Matrix	brain

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