Variant report

Variant	rs1851758
Chromosome Location	chr2:168192121-168192122
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144532837..144535320-chr2:168191058..168192558,2	K562	blood:
2	chr1:144532923..144535291-chr2:168191058..168192578,2	K562	blood:

Variant related genes	Relation type
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10186558	0.89[EUR][1000 genomes]
rs10189334	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10192896	0.92[EUR][1000 genomes]
rs10803821	0.86[EUR][1000 genomes]
rs10803822	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10930264	0.87[EUR][1000 genomes]
rs10930265	0.90[EUR][1000 genomes]
rs10930268	0.88[EUR][1000 genomes]
rs10930270	0.88[EUR][1000 genomes]
rs12105767	0.88[EUR][1000 genomes]
rs12620530	0.85[EUR][1000 genomes]
rs12692859	0.88[EUR][1000 genomes]
rs1357599	0.90[EUR][1000 genomes]
rs1357605	0.87[EUR][1000 genomes]
rs1382318	0.88[EUR][1000 genomes]
rs1403894	0.90[EUR][1000 genomes]
rs1403897	0.88[EUR][1000 genomes]
rs1403898	0.88[EUR][1000 genomes]
rs1403899	0.88[EUR][1000 genomes]
rs1403900	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1403901	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1478384	0.88[EUR][1000 genomes]
rs1478385	0.88[EUR][1000 genomes]
rs1523878	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1523882	0.88[EUR][1000 genomes]
rs1540820	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1540821	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1540822	0.89[EUR][1000 genomes]
rs1568747	0.88[EUR][1000 genomes]
rs1581484	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1581485	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1589728	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1608518	0.81[ASN][1000 genomes]
rs1608519	0.88[EUR][1000 genomes]
rs1608520	0.88[EUR][1000 genomes]
rs1851759	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1851760	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1916742	0.91[EUR][1000 genomes]
rs1916746	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1916747	0.89[EUR][1000 genomes]
rs1916748	0.88[EUR][1000 genomes]
rs1916749	0.88[EUR][1000 genomes]
rs1916750	0.88[EUR][1000 genomes]
rs1916751	0.88[EUR][1000 genomes]
rs1996949	0.88[EUR][1000 genomes]
rs2103098	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2140501	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2177440	0.84[AFR][1000 genomes]
rs2177441	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177442	0.91[EUR][1000 genomes]
rs2204280	0.83[EUR][1000 genomes]
rs2250619	0.88[EUR][1000 genomes]
rs2617368	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2617386	0.88[EUR][1000 genomes]
rs2617388	0.88[EUR][1000 genomes]
rs2617391	0.88[EUR][1000 genomes]
rs2617393	0.88[EUR][1000 genomes]
rs2617394	0.88[EUR][1000 genomes]
rs2617398	0.88[EUR][1000 genomes]
rs2617399	0.88[EUR][1000 genomes]
rs2689820	0.88[EUR][1000 genomes]
rs2689823	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2689825	0.88[EUR][1000 genomes]
rs2689826	0.88[EUR][1000 genomes]
rs2689827	0.88[EUR][1000 genomes]
rs2689828	0.88[EUR][1000 genomes]
rs2689832	0.88[EUR][1000 genomes]
rs2689833	0.88[EUR][1000 genomes]
rs2689842	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2927600	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2949009	0.88[EUR][1000 genomes]
rs2949010	0.88[EUR][1000 genomes]
rs4538166	0.88[EUR][1000 genomes]
rs4667949	0.88[EUR][1000 genomes]
rs57797869	0.88[EUR][1000 genomes]
rs58013803	0.88[EUR][1000 genomes]
rs60102532	0.88[EUR][1000 genomes]
rs61529696	0.88[EUR][1000 genomes]
rs6726067	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6743941	0.97[ASN][1000 genomes]
rs6746887	0.80[EUR][1000 genomes]
rs73972228	0.88[EUR][1000 genomes]
rs73972230	0.88[EUR][1000 genomes]
rs7576187	0.88[EUR][1000 genomes]
rs7593641	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594496	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs899185	0.88[EUR][1000 genomes]
rs9287881	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs940315	0.88[EUR][1000 genomes]
rs9751663	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9751666	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168187600-168194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168187800-168192800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:168188600-168192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:168189000-168194800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:168189200-168192400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:168189200-168192600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:168189200-168194000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:168189200-168194400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:168189200-168194600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:168190200-168193400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:168190400-168193400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:168191200-168192200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:168191200-168192600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:168191200-168194400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:168191600-168192600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:168191600-168192800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:168192000-168192200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:168192000-168192600	Enhancers	NH-A	brain
19	chr2:168192000-168193200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:168192000-168193600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:168192000-168194000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:168192000-168194200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:168192000-168194400	Enhancers	Cortex derived primary cultured neurospheres	brain

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