Variant report

Variant	rs11165319
Chromosome Location	chr1:95604637-95604638
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	ZNF384	chr1:95604529-95605073	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95599337..95601129-chr1:95603981..95606226,2	K562	blood:
2	chr1:95602168..95604701-chr1:95606457..95608618,2	K562	blood:

Variant related genes	Relation type
TMEM56	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10874906	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874908	0.81[ASN][1000 genomes]
rs11165314	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11165317	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165333	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165343	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11165346	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11165349	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12021650	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12034397	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12036706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037572	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048133	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12067935	0.88[AMR][1000 genomes]
rs12084387	0.88[AMR][1000 genomes]
rs12085822	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401359	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12407571	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408858	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1927043	0.89[ASN][1000 genomes]
rs2147587	0.81[ASN][1000 genomes]
rs2148797	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296308	0.81[ASN][1000 genomes]
rs259340	0.87[AMR][1000 genomes]
rs259341	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs259348	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs259351	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259353	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259356	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3738171	0.81[ASN][1000 genomes]
rs3753872	0.81[ASN][1000 genomes]
rs3767313	0.81[ASN][1000 genomes]
rs3767315	0.81[ASN][1000 genomes]
rs3820345	0.81[ASN][1000 genomes]
rs4950024	0.81[ASN][1000 genomes]
rs547339	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs564610	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs592097	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61771764	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61771765	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61771766	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs658018	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6666528	0.81[ASN][1000 genomes]
rs6671408	0.81[ASN][1000 genomes]
rs6702139	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688633	0.83[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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
2	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:95588200-95608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:95590000-95611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:95594600-95610600	Weak transcription	A549	lung
8	chr1:95598600-95612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:95598800-95633800	Weak transcription	Fetal Heart	heart
10	chr1:95599800-95605400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:95600200-95605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:95601200-95618400	Weak transcription	Pancreas	Pancrea
14	chr1:95601800-95633600	Weak transcription	HepG2	liver
15	chr1:95602200-95615400	Weak transcription	Ovary	ovary
16	chr1:95602200-95628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:95602800-95628800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:95602800-95634200	Weak transcription	Left Ventricle	heart
19	chr1:95603000-95607600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:95603000-95608000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:95603000-95608200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:95603000-95640800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:95604200-95609800	Weak transcription	Liver	Liver
24	chr1:95604200-95630000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:95604400-95605200	Weak transcription	K562	blood

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