Variant report

Variant	rs10911485
Chromosome Location	chr1:183971749-183971750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:183966025..183968649-chr1:183970110..183972411,2	MCF-7	breast:
2	chr1:183964839..183967146-chr1:183970545..183972322,3	K562	blood:
3	chr1:183971073..183972712-chr1:183973547..183976840,3	K562	blood:
4	chr1:183971472..183974918-chr1:183978540..183982820,5	K562	blood:
5	chr1:183971721..183974918-chr1:183978540..183981272,3	K562	blood:
6	chr1:183958819..183961502-chr1:183969906..183972201,2	K562	blood:
7	chr1:183967387..183970821-chr1:183971307..183974997,4	K562	blood:

No data

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10752927	0.85[ASN][1000 genomes]
rs10797925	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797926	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797927	0.85[ASN][1000 genomes]
rs10797928	0.85[ASN][1000 genomes]
rs10797929	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10797930	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797932	0.94[ASN][1000 genomes]
rs10911477	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911480	0.85[ASN][1000 genomes]
rs10911481	0.85[ASN][1000 genomes]
rs10911482	0.85[ASN][1000 genomes]
rs10911483	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911484	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911486	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021841	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023778	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12027096	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028482	0.85[ASN][1000 genomes]
rs12030903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030924	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034897	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034962	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042354	0.85[ASN][1000 genomes]
rs12044468	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12059407	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12060999	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12061041	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12064779	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069197	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085344	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475402	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861859	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1887282	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887283	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1926866	0.85[ASN][1000 genomes]
rs1926867	0.83[ASN][1000 genomes]
rs1926868	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998926	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2025807	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2148672	0.85[ASN][1000 genomes]
rs2148678	0.84[ASN][1000 genomes]
rs2182623	0.85[ASN][1000 genomes]
rs2182624	0.85[ASN][1000 genomes]
rs3930248	0.85[ASN][1000 genomes]
rs6662690	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6698329	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6701930	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7410829	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751410	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183958600-183974200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:183966000-183972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:183970600-183972800	Enhancers	Brain Substantia Nigra	brain
4	chr1:183970800-183972200	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:183970800-183972400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:183970800-183972400	Enhancers	HepG2	liver
7	chr1:183970800-183972800	Enhancers	Brain Angular Gyrus	brain
8	chr1:183970800-183973000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:183970800-183974200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:183970800-183974600	Enhancers	Brain Hippocampus Middle	brain
11	chr1:183971000-183971800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:183971000-183971800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:183971000-183972000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:183971000-183972000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:183971000-183972000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:183971000-183972000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:183971000-183972400	Enhancers	NHDF-Ad	bronchial
18	chr1:183971000-183972600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:183971000-183972600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:183971000-183972600	Enhancers	HMEC	breast
21	chr1:183971000-183972600	Enhancers	K562	blood
22	chr1:183971000-183972600	Enhancers	Osteobl	bone
23	chr1:183971000-183972800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:183971000-183972800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:183971000-183972800	Enhancers	NH-A	brain
26	chr1:183971000-183975000	Enhancers	Brain Anterior Caudate	brain
27	chr1:183971200-183971800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:183971200-183971800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:183971200-183971800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:183971200-183971800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:183971200-183971800	Enhancers	Colon Smooth Muscle	Colon
32	chr1:183971200-183972000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:183971200-183972000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:183971200-183972000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:183971200-183972000	Enhancers	HSMMtube	muscle
36	chr1:183971200-183972000	Enhancers	NHEK	skin
37	chr1:183971200-183972200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:183971200-183972400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:183971200-183972400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:183971200-183972400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:183971200-183972600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:183971200-183972600	Enhancers	HUVEC	blood vessel
43	chr1:183971200-183974600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:183971400-183972400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:183971400-183972400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:183971400-183972400	Weak transcription	Left Ventricle	heart
47	chr1:183971400-183972400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:183971400-183972600	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:183971400-183972600	Enhancers	HSMM	muscle
50	chr1:183971600-183972000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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