Variant report

Variant	rs72903112
Chromosome Location	chr2:187434766-187434767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187433275..187435459-chr2:187454415..187456337,2	MCF-7	breast:
2	chr2:187432930..187434820-chr2:187437011..187439461,2	MCF-7	breast:
3	chr2:187433203..187436265-chr2:187453472..187457114,4	K562	blood:
4	chr2:187350081..187352556-chr2:187433116..187434911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10194631	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10209563	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10209572	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690463	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695304	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12693452	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12693453	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13407441	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13428705	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372649	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1375124	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1376783	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1584695	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17333648	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17333690	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17333717	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17405738	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1814215	0.81[ASN][1000 genomes]
rs1839120	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2083678	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2119863	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34723308	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4666706	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4666709	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667104	0.90[AMR][1000 genomes]
rs4667106	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66694735	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6717629	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6717871	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6753278	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6755033	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6755164	0.83[ASN][1000 genomes]
rs68022965	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68161763	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68164840	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719071	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs719072	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72903105	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7572236	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7577962	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7588772	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7591411	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs766633	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers 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	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	esv1007920	chr2:187427312-187437824	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187420200-187434800	Weak transcription	NHEK	skin
2	chr2:187426600-187441200	Weak transcription	Aorta	Aorta
3	chr2:187434400-187436200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:187434600-187434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:187434600-187435000	Flanking Active TSS	HepG2	liver
6	chr2:187434600-187435200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:187434600-187435400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:187434600-187435400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:187434600-187435400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:187434600-187435600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:187434600-187435800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:187434600-187435800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:187434600-187435800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:187434600-187435800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:187434600-187435800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:187434600-187435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:187434600-187435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:187434600-187435800	Enhancers	HUVEC	blood vessel
19	chr2:187434600-187435800	Enhancers	K562	blood
20	chr2:187434600-187435800	Enhancers	NH-A	brain
21	chr2:187434600-187436000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:187434600-187436000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:187434600-187436000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:187434600-187436000	Enhancers	Osteobl	bone
25	chr2:187434600-187436200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:187434600-187436200	Flanking Active TSS	A549	lung
27	chr2:187434600-187436400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:187434600-187436400	Enhancers	Hela-S3	cervix
29	chr2:187434600-187436800	Enhancers	Stomach Mucosa	stomach

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