Variant report

Variant	rs1163548
Chromosome Location	chr1:120335806-120335807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120324473..120326821-chr1:120335135..120337895,2	K562	blood:
2	chr1:120327792..120331105-chr1:120334813..120337801,3	MCF-7	breast:
3	chr1:120334093..120335872-chr1:120350394..120352351,2	MCF-7	breast:
4	chr1:120330723..120332386-chr1:120334423..120336178,2	K562	blood:
5	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:
6	chr1:120333977..120336154-chr1:120357521..120360172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134193	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1163541	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1163547	1.00[EUR][1000 genomes]
rs1163549	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1660606	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1992377	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255944	0.99[EUR][1000 genomes]
rs2582781	0.96[EUR][1000 genomes]
rs2582783	0.96[EUR][1000 genomes]
rs2582788	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2582796	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793824	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793825	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120327200-120336400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:120327400-120337000	Weak transcription	Colonic Mucosa	Colon
3	chr1:120328400-120336800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:120330200-120336000	Weak transcription	Esophagus	oesophagus
5	chr1:120330600-120336000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:120331000-120337800	Weak transcription	HMEC	breast
7	chr1:120331200-120336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:120332800-120341600	Enhancers	Fetal Stomach	stomach
9	chr1:120333800-120336000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:120333800-120339200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:120334000-120336000	Weak transcription	Pancreas	Pancrea
12	chr1:120334000-120338400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:120334000-120339400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:120334200-120338000	Weak transcription	Small Intestine	intestine
15	chr1:120334400-120336000	Weak transcription	Stomach Mucosa	stomach
16	chr1:120334400-120336400	Weak transcription	Gastric	stomach
17	chr1:120334400-120337000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:120334600-120336000	Weak transcription	Placenta	Placenta
19	chr1:120334600-120337000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:120334600-120337000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:120334600-120337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:120334800-120337000	Weak transcription	Liver	Liver
23	chr1:120334800-120337400	Weak transcription	Fetal Kidney	kidney
24	chr1:120335000-120336000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:120335000-120336000	Weak transcription	Fetal Intestine Small	intestine
26	chr1:120335800-120336400	Enhancers	Fetal Lung	lung
27	chr1:120335800-120336400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:120335800-120338800	Enhancers	Duodenum Smooth Muscle	Duodenum

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