Variant report

Variant	rs6708492
Chromosome Location	chr2:152157973-152157974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152149114..152151846-chr2:152155576..152158199,2	K562	blood:
2	chr2:152154122..152156029-chr2:152157946..152160743,2	MCF-7	breast:
3	chr2:152157470..152161294-chr2:152162046..152164372,3	MCF-7	breast:
4	chr2:152147623..152151846-chr2:152155576..152159756,4	K562	blood:
5	chr2:152145283..152147582-chr2:152156241..152158762,4	K562	blood:
6	chr2:152153051..152155912-chr2:152157552..152160474,3	K562	blood:
7	chr2:152153051..152154778-chr2:152157552..152159537,2	K562	blood:

Variant related genes	Relation type
ENSG00000123609	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165186	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10165284	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10184314	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201139	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10203366	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10207408	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10209942	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10210155	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11692626	0.81[ASN][1000 genomes]
rs12998170	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13007728	0.81[EUR][1000 genomes]
rs13018429	0.80[ASN][1000 genomes]
rs13020443	0.80[ASN][1000 genomes]
rs13020769	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13030194	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13412131	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13420739	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2194492	0.83[EUR][1000 genomes]
rs28416443	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34092307	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34385951	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34433746	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34548459	0.83[EUR][1000 genomes]
rs34639984	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35371567	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35473321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613168	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35680784	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35791982	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4664318	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4664319	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4664320	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4665163	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4665167	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4665169	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4665170	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59247111	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60956116	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6433325	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433327	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6705180	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6707889	0.81[ASN][1000 genomes]
rs6708382	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6713190	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67181317	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6723298	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6726634	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6752471	0.81[EUR][1000 genomes]
rs6752617	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693192	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67868855	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7349449	0.80[ASN][1000 genomes]
rs9287955	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9287956	0.83[EUR][1000 genomes];0.83[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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv821756	chr2:152157293-152158003	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6708492	NMI	cis	Esophagus Mucosa	GTEx
rs6708492	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs6708492	TNFAIP6	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152149400-152158800	Weak transcription	K562	blood
2	chr2:152152600-152158600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:152155800-152159400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:152157000-152158800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:152157000-152158800	Weak transcription	NHDF-Ad	bronchial

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