Variant report

Variant	rs16850786
Chromosome Location	chr1:224828867-224828868
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224826905..224830184-chr1:224832363..224835221,3	K562	blood:
2	chr1:224700834..224702190-chr1:224828433..224829393,12	MCF-7	breast:
3	chr1:224701177..224702117-chr1:224828509..224829267,3	K562	blood:
4	chr1:224828694..224829292-chr1:225039053..225039774,2	MCF-7	breast:
5	chr1:224805248..224807412-chr1:224827891..224830752,2	K562	blood:
6	chr1:224827571..224830505-chr1:224833018..224834842,2	K562	blood:
7	chr1:224701145..224702114-chr1:224827945..224829840,21	MCF-7	breast:
8	chr1:224821183..224823060-chr1:224827666..224830231,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1036431	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1039265	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10495227	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10915691	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10915693	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10915695	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1106233	0.83[CEU][hapmap]
rs11805320	0.81[CEU][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12058085	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12060334	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12062831	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12065840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12068125	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12072810	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12073052	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12077707	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12079156	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12088524	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12092532	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12096245	0.83[CEU][hapmap]
rs12562581	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12565092	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12567125	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1337538	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1465766	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1465767	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1499289	0.83[CEU][hapmap]
rs1532557	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1985338	0.80[EUR][1000 genomes]
rs4363402	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs61603030	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61827076	0.81[EUR][1000 genomes]
rs61827113	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61827152	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6426147	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6695864	0.92[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7541279	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7554310	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs883116	0.81[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
3	chr1:224825200-224829400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:224826000-224829800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:224826200-224829200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:224826400-224831400	Weak transcription	Thymus	Thymus
8	chr1:224826400-224837800	Weak transcription	NHLF	lung
9	chr1:224827000-224829000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:224827000-224839800	Weak transcription	HSMM	muscle
11	chr1:224827600-224829000	Enhancers	Fetal Brain Male	brain
12	chr1:224828000-224829000	Enhancers	Gastric	stomach
13	chr1:224828200-224829400	Weak transcription	HSMMtube	muscle
14	chr1:224828400-224829400	Strong transcription	Dnd41	blood
15	chr1:224828400-224831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:224828600-224829400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:224828600-224829400	Enhancers	GM12878-XiMat	blood
18	chr1:224828600-224829400	Strong transcription	NHDF-Ad	bronchial
19	chr1:224828600-224829800	Enhancers	NH-A	brain
20	chr1:224828600-224831600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:224828600-224834000	Weak transcription	Pancreas	Pancrea
22	chr1:224828600-224837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:224828800-224829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:224828800-224832400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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