Variant report

Variant	rs842801
Chromosome Location	chr1:192920976-192920977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:192920915-192921816	IMR90	lung:	n/a	n/a
2	JUND	chr1:192920934-192921765	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr1:192920923-192921687	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:192920959-192921695	HUVEC	blood vessel:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192917290..192919095-chr1:192919378..192921019,2	K562	blood:
2	chr1:192919620..192921287-chr1:192946637..192948613,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TROVE2-2	chr1:192919757-192921102	NONHSAT008554

No data

Variant related genes	Relation type
LINC01032	TF binding region
ENSG00000234871	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1339589	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1339592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1578163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1612628	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1618583	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769059	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769068	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769070	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769071	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1770923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486494	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2486495	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2486498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2487283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2487289	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189492	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6661948	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73068182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73068192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546076	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7553594	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842785	0.81[AFR][1000 genomes]
rs842786	0.81[AFR][1000 genomes]
rs842787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842788	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842799	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842800	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842805	0.93[YRI][hapmap]
rs842806	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842808	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842811	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs863600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946556	1.00[AFR][1000 genomes];1.00[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192908800-192921000	Weak transcription	NHEK	skin
2	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:192912200-192921000	Weak transcription	HSMM	muscle
4	chr1:192917600-192927800	Weak transcription	Left Ventricle	heart
5	chr1:192920000-192921000	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:192920000-192922400	Enhancers	HUVEC	blood vessel
7	chr1:192920200-192921000	Enhancers	Colon Smooth Muscle	Colon
8	chr1:192920400-192922200	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:192920600-192921000	Enhancers	NH-A	brain
10	chr1:192920600-192921600	Enhancers	Fetal Kidney	kidney
11	chr1:192920600-192922400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:192920600-192922400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:192920600-192922600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:192920600-192925200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:192920800-192921200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:192920800-192921400	Enhancers	Fetal Stomach	stomach
17	chr1:192920800-192921600	Enhancers	GM12878-XiMat	blood
18	chr1:192920800-192922000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:192920800-192922200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:192920800-192922200	Enhancers	HSMMtube	muscle
21	chr1:192920800-192922400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:192920800-192922400	Enhancers	NHDF-Ad	bronchial

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