Variant report

Variant	rs16856127
Chromosome Location	chr1:180511173-180511174
allele	A/G
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	chr1:180507839..180510458-chr1:180510629..180513153,2	K562	blood:
2	chr1:180511015..180513302-chr1:180517883..180519397,2	K562	blood:
3	chr1:180509296..180511935-chr1:180795313..180796906,2	K562	blood:
4	chr1:180505841..180513650-chr1:180514886..180521271,14	K562	blood:
5	chr1:180505455..180510458-chr1:180510629..180513153,4	K562	blood:
6	chr1:180501651..180503663-chr1:180510175..180512721,2	K562	blood:
7	chr1:180510781..180513155-chr1:180847874..180850004,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266683	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10914021	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs10914022	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes]
rs10914035	0.92[EUR][1000 genomes]
rs10914036	0.85[CEU][hapmap]
rs10914038	0.91[EUR][1000 genomes]
rs12027839	0.95[EUR][1000 genomes]
rs12027878	0.95[EUR][1000 genomes]
rs12039331	0.90[CEU][hapmap]
rs12044653	0.95[EUR][1000 genomes]
rs12045365	0.93[EUR][1000 genomes]
rs12407684	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13374665	1.00[CEU][hapmap]
rs1416822	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17300340	1.00[CEU][hapmap]
rs17300579	1.00[CEU][hapmap]
rs17300600	1.00[CEU][hapmap]
rs17300712	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17372295	1.00[CEU][hapmap]
rs17372362	1.00[CEU][hapmap]
rs4405110	1.00[CEU][hapmap]
rs4446932	0.83[EUR][1000 genomes]
rs4652509	0.95[EUR][1000 genomes]
rs57537558	0.83[EUR][1000 genomes]
rs58047798	0.83[EUR][1000 genomes]
rs58089956	0.95[EUR][1000 genomes]
rs60927564	0.82[EUR][1000 genomes]
rs61388681	0.82[EUR][1000 genomes]
rs6425643	0.81[EUR][1000 genomes]
rs6425646	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[EUR][1000 genomes]
rs6694454	0.95[EUR][1000 genomes]
rs6697232	0.95[EUR][1000 genomes]
rs72720914	0.83[EUR][1000 genomes]
rs7513944	0.85[CEU][hapmap]
rs7517775	1.00[CEU][hapmap]
rs7525689	0.88[EUR][1000 genomes]
rs7541993	0.86[CEU][hapmap]
rs7546119	0.85[CEU][hapmap]
rs7547266	0.86[EUR][1000 genomes]
rs7551178	0.86[CEU][hapmap]
rs7552084	0.81[CEU][hapmap]
rs946631	0.85[CEU][hapmap]
rs946636	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs961162	0.82[EUR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
2	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
3	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:180506200-180513200	Weak transcription	Pancreas	Pancrea
5	chr1:180506400-180511200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:180506600-180511200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:180506800-180511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180507000-180514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:180508000-180513200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:180508800-180511400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:180508800-180513000	Enhancers	Fetal Heart	heart
12	chr1:180509000-180511600	Enhancers	HMEC	breast
13	chr1:180509400-180511400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:180509400-180512800	Enhancers	Osteobl	bone
15	chr1:180509400-180513400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:180509600-180512200	Enhancers	HSMMtube	muscle
17	chr1:180510000-180512200	Enhancers	K562	blood
18	chr1:180510200-180511200	Weak transcription	Right Atrium	heart
19	chr1:180510200-180511200	Weak transcription	Right Ventricle	heart
20	chr1:180510200-180512200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:180510200-180512600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:180510400-180511200	Weak transcription	Ovary	ovary
24	chr1:180510400-180511200	Weak transcription	HSMM	muscle
25	chr1:180510400-180513000	Enhancers	Fetal Brain Male	brain
26	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:180510800-180511200	Weak transcription	NH-A	brain
28	chr1:180510800-180512000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:180511000-180512000	Enhancers	Left Ventricle	heart
30	chr1:180511000-180512200	Enhancers	Adipose Nuclei	Adipose
31	chr1:180511000-180512400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:180511000-180513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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