Variant report

Variant	rs1814668
Chromosome Location	chr3:121381472-121381473
allele	C/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	POLR2A	chr3:121378844-121382265	K562	blood:	n/a	n/a
2	POLR2A	chr3:121381457-121381549	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121374281..121376977-chr3:121381116..121385045,3	MCF-7	breast:
2	chr3:121380202..121382389-chr3:121387909..121390057,2	K562	blood:

Variant related genes	Relation type
HCLS1	TF binding region
ENSG00000222057	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10934556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10934557	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11915822	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11919421	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12488717	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12489110	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12489196	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12491671	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12491714	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12493927	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631803	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12636562	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12637265	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1574654	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1919553	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1919554	0.84[AFR][1000 genomes]
rs1919556	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1971281	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2055034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35674179	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35825165	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3966063	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4048693	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41271407	0.89[EUR][1000 genomes]
rs55930520	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55964762	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56109033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286202	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6762575	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6766737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6775634	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6786605	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6793556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6798575	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7643293	0.89[EUR][1000 genomes];0.82[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	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
2	chr3:121351000-121382800	Weak transcription	Small Intestine	intestine
3	chr3:121367400-121381800	Weak transcription	Pancreas	Pancrea
4	chr3:121370600-121381600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:121371000-121383600	Weak transcription	Hela-S3	cervix
6	chr3:121376400-121382200	Weak transcription	A549	lung
7	chr3:121376400-121383000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:121377000-121383600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:121377800-121381600	Weak transcription	Fetal Brain Female	brain
10	chr3:121378000-121388400	Strong transcription	Fetal Stomach	stomach
11	chr3:121378200-121381600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:121378400-121381600	Weak transcription	Brain Germinal Matrix	brain
13	chr3:121378400-121381800	Weak transcription	Brain Substantia Nigra	brain
14	chr3:121378400-121383200	Weak transcription	NH-A	brain
15	chr3:121378800-121382200	Weak transcription	Brain Angular Gyrus	brain
16	chr3:121379000-121381800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:121379000-121382200	Weak transcription	NHLF	lung
18	chr3:121379000-121384200	Enhancers	Fetal Heart	heart
19	chr3:121379400-121381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:121379400-121384600	Weak transcription	Fetal Kidney	kidney
21	chr3:121379400-121402400	Strong transcription	Fetal Intestine Large	intestine
22	chr3:121379600-121381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:121379600-121381600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:121379600-121381600	Weak transcription	Fetal Lung	lung
25	chr3:121379600-121381800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:121379800-121381600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:121379800-121381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:121379800-121381600	Weak transcription	Liver	Liver
29	chr3:121379800-121381600	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:121379800-121381600	Weak transcription	Colonic Mucosa	Colon
31	chr3:121379800-121381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:121379800-121381600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:121379800-121381600	Weak transcription	Lung	lung
34	chr3:121379800-121381600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:121379800-121381600	Weak transcription	Right Ventricle	heart
36	chr3:121379800-121381600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:121379800-121381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:121379800-121381800	Weak transcription	Spleen	Spleen
39	chr3:121379800-121381800	Weak transcription	Osteobl	bone
40	chr3:121379800-121382000	Weak transcription	Psoas Muscle	Psoas
41	chr3:121379800-121382400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:121379800-121382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:121379800-121382400	Weak transcription	Ovary	ovary
44	chr3:121379800-121382400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:121379800-121382800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:121379800-121383000	Weak transcription	Esophagus	oesophagus
47	chr3:121379800-121384200	Genic enhancers	Fetal Muscle Leg	muscle
48	chr3:121380000-121381600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:121380000-121382000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:121380000-121382200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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