Variant report

Variant	rs16849654
Chromosome Location	chr1:224752486-224752487
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	RCOR1	chr1:224752173-224753718	IMR90	lung:	n/a	n/a
2	MAX	chr1:224752199-224753690	NB4	blood:	n/a	n/a
3	MYC	chr1:224752284-224753616	NB4	blood:	n/a	n/a
4	TCF12	chr1:224752294-224753619	SK-N-SH	brain:	n/a	chr1:224752442-224752449

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224751582..224753460-chr17:58156585..58158149,2	MCF-7	breast:

Variant related genes	Relation type
CNIH3	TF binding region
ENSG00000267416	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11802812	1.00[JPT][hapmap]
rs13376387	1.00[CHB][hapmap]
rs16849683	1.00[ASN][1000 genomes]
rs58182294	1.00[ASN][1000 genomes]
rs61186459	1.00[ASN][1000 genomes]
rs6693360	1.00[JPT][hapmap]
rs7539939	1.00[JPT][hapmap]
rs7550112	1.00[JPT][hapmap]

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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224742000-224753000	Weak transcription	Pancreas	Pancrea
3	chr1:224749000-224753200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:224749400-224753200	Enhancers	NHDF-Ad	bronchial
5	chr1:224750000-224753200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:224750000-224754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:224750000-224754000	Enhancers	HMEC	breast
8	chr1:224750400-224754000	Enhancers	NHEK	skin
9	chr1:224750800-224753600	Enhancers	HSMMtube	muscle
10	chr1:224751000-224753200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:224751200-224752600	Enhancers	Hela-S3	cervix
12	chr1:224751200-224753400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224751400-224753200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:224751400-224754200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:224751600-224753600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:224751800-224753800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:224752000-224753600	Enhancers	Psoas Muscle	Psoas
18	chr1:224752000-224753800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:224752200-224752800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:224752200-224753600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:224752200-224753600	Enhancers	Esophagus	oesophagus
22	chr1:224752200-224753600	Enhancers	NHLF	lung
23	chr1:224752200-224753800	Enhancers	HSMM	muscle
24	chr1:224752200-224753800	Enhancers	HUVEC	blood vessel
25	chr1:224752200-224753800	Enhancers	NH-A	brain
26	chr1:224752200-224753800	Enhancers	Osteobl	bone
27	chr1:224752400-224752600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:224752400-224752600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:224752400-224752800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:224752400-224752800	Enhancers	Fetal Muscle Leg	muscle
31	chr1:224752400-224753400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:224752400-224753600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:224752400-224753800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:224752400-224754000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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