Variant report

Variant	rs55857606
Chromosome Location	chr1:197117410-197117411
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	POLR2A	chr1:197117311-197117452	MCF-7	breast:	n/a	n/a
2	ZNF384	chr1:197117387-197117765	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197112577..197117711-chr1:197168565..197172597,7	K562	blood:
2	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:
3	chr1:197117346..197120287-chr1:197339485..197341167,2	K562	blood:
4	chr1:197115985..197117514-chr1:197120837..197122642,2	MCF-7	breast:

Variant related genes	Relation type
ASPM	TF binding region
ENSG00000177888	Chromatin interaction
ENSG00000134376	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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17514309	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17514324	0.88[EUR][1000 genomes]
rs17549312	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17549360	0.87[EUR][1000 genomes]
rs17549430	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17550014	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17550411	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17662710	0.88[EUR][1000 genomes]
rs1794011	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2878749	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3737110	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3762271	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41304071	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs41308365	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41310911	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41310925	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41310927	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4244139	0.91[ASN][1000 genomes]
rs4581302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4628533	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56084994	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56111948	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387334	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5996	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61819074	0.92[EUR][1000 genomes]
rs61819087	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61819088	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61819089	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61819095	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819096	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819114	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61819115	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819116	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819117	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819118	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819119	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819121	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819122	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61819124	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61820800	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6690730	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698859	0.88[EUR][1000 genomes]
rs72736469	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72736474	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72738635	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738637	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738645	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72738652	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7517428	0.88[EUR][1000 genomes]
rs857024	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs857025	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs955927	1.00[AFR][1000 genomes];0.89[EUR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197118200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:197116400-197118400	Weak transcription	NHDF-Ad	bronchial
3	chr1:197116400-197119400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:197116400-197119600	Weak transcription	Liver	Liver
5	chr1:197116400-197119800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:197116400-197120600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:197116400-197123400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:197116400-197126800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:197116400-197126800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:197116400-197127000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:197116400-197127400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:197116400-197127400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:197116400-197127400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:197116400-197127600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:197116400-197127600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:197116400-197127600	Weak transcription	HSMM	muscle
17	chr1:197116400-197127800	Weak transcription	Fetal Lung	lung
18	chr1:197116400-197127800	Weak transcription	NH-A	brain
19	chr1:197116400-197128000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:197116400-197128200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:197116400-197128200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:197116400-197128400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:197116400-197128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:197116400-197128400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:197116400-197128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:197116400-197128400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:197116400-197128400	Weak transcription	Fetal Thymus	thymus
28	chr1:197116400-197128400	Weak transcription	A549	lung
29	chr1:197116400-197128600	Weak transcription	Left Ventricle	heart
30	chr1:197116400-197132000	Weak transcription	HSMMtube	muscle
31	chr1:197116400-197134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:197116400-197138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:197116400-197142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:197116400-197142200	Weak transcription	HUVEC	blood vessel
35	chr1:197116400-197142400	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:197116400-197142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:197116400-197142600	Weak transcription	Fetal Brain Female	brain
38	chr1:197116400-197146200	Weak transcription	Gastric	stomach
39	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
40	chr1:197116600-197122000	Weak transcription	K562	blood
41	chr1:197116600-197126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:197116600-197127400	Weak transcription	Primary B cells from cord blood	blood
43	chr1:197116600-197127400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:197116600-197127600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:197116600-197127800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:197116600-197128000	Weak transcription	Placenta	Placenta
47	chr1:197116600-197128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:197116600-197128400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:197116600-197128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:197116600-197128400	Weak transcription	Primary hematopoietic stem cells	blood

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