Variant report

Variant	rs1196360
Chromosome Location	chr1:151579662-151579663
allele	G/T
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	SMARCC1	chr1:151578785-151579797	Hela-S3	cervix:	n/a	n/a
2	HNF4A	chr1:151579362-151579681	HepG2	liver:	n/a	chr1:151579522-151579537
3	SMARCC2	chr1:151578801-151579663	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151566931..151569247-chr1:151577793..151580196,2	MCF-7	breast:
2	chr1:151549087..151552295-chr1:151579604..151582437,3	MCF-7	breast:
3	chr1:151574917..151577114-chr1:151578095..151581619,4	MCF-7	breast:

Variant related genes	Relation type
SNX27	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11204859	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196358	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12035531	0.89[EUR][1000 genomes]
rs12130368	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs16833391	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs1781414	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1781416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280474	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs3748606	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs3790508	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs4596896	0.95[EUR][1000 genomes]
rs7532867	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 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	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151575400-151580800	Weak transcription	K562	blood
3	chr1:151578200-151581200	Enhancers	Fetal Intestine Small	intestine
4	chr1:151578400-151581400	Enhancers	Fetal Intestine Large	intestine
5	chr1:151578400-151581400	Enhancers	Placenta	Placenta
6	chr1:151578600-151579800	Enhancers	Stomach Mucosa	stomach
7	chr1:151578600-151580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:151578600-151580000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:151578600-151580200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:151578600-151580800	Enhancers	A549	lung
11	chr1:151578600-151581400	Enhancers	HMEC	breast
12	chr1:151578800-151580000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:151578800-151580200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:151578800-151580800	Enhancers	HepG2	liver
15	chr1:151579000-151580800	Enhancers	Hela-S3	cervix
16	chr1:151579200-151580600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:151579200-151580600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:151579200-151580600	Weak transcription	NH-A	brain
19	chr1:151579200-151580800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:151579400-151579800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:151579400-151579800	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:151579400-151581200	Enhancers	NHEK	skin
23	chr1:151579600-151579800	Enhancers	Pancreas	Pancrea
24	chr1:151579600-151580800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:151579600-151580800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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