Variant report

Variant	rs73301705
Chromosome Location	chr8:92056885-92056886
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:92056146..92058956-chr8:92081154..92084293,3	MCF-7	breast:
2	chr8:92055125..92057204-chr8:92081507..92083903,2	K562	blood:
3	chr8:92054183..92058700-chr8:92080091..92083007,4	K562	blood:
4	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM55A-1	chr8:92056849-92056990	ENSG00000254219.1
2	lnc-TMEM55A-1	chr8:92056849-92056961	ENSG00000254219.1

No data

Variant related genes	Relation type
ENSG00000155100	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10090882	0.80[EUR][1000 genomes]
rs10091357	0.80[EUR][1000 genomes]
rs10096420	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375263	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386850	0.80[EUR][1000 genomes]
rs13259915	0.86[EUR][1000 genomes]
rs13262428	0.86[EUR][1000 genomes]
rs13269704	0.86[EUR][1000 genomes]
rs13270682	0.86[EUR][1000 genomes]
rs13278451	0.86[EUR][1000 genomes]
rs13279087	0.86[EUR][1000 genomes]
rs13279629	0.86[EUR][1000 genomes]
rs13281102	0.86[EUR][1000 genomes]
rs34052615	0.86[EUR][1000 genomes]
rs34184044	0.81[EUR][1000 genomes]
rs34377386	0.83[EUR][1000 genomes]
rs34811059	0.86[EUR][1000 genomes]
rs34917704	0.90[EUR][1000 genomes]
rs35193292	0.82[EUR][1000 genomes]
rs35204946	0.86[EUR][1000 genomes]
rs35234461	0.86[EUR][1000 genomes]
rs35442880	0.83[EUR][1000 genomes]
rs35716133	0.83[EUR][1000 genomes]
rs35716905	0.86[EUR][1000 genomes]
rs35858946	0.86[EUR][1000 genomes]
rs35913126	0.86[EUR][1000 genomes]
rs36057933	0.86[EUR][1000 genomes]
rs4260862	0.80[EUR][1000 genomes]
rs4467904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61003561	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999873	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71528764	0.86[EUR][1000 genomes]
rs71528766	0.86[EUR][1000 genomes]
rs71528767	0.86[EUR][1000 genomes]
rs71528768	0.86[EUR][1000 genomes]
rs71528769	0.86[EUR][1000 genomes]
rs71528773	0.86[EUR][1000 genomes]
rs71528780	0.86[EUR][1000 genomes]
rs73299992	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301707	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820781	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92053600-92057400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:92053600-92060200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:92053800-92065800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:92053800-92080400	Weak transcription	Fetal Brain Female	brain
5	chr8:92054200-92057000	Weak transcription	Fetal Heart	heart
6	chr8:92054200-92057200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:92054200-92059400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:92054200-92060000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:92054200-92060400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:92055200-92062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:92055400-92057000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:92056200-92057000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:92056200-92058200	Enhancers	K562	blood
14	chr8:92056400-92057000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:92056400-92057400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:92056600-92057000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:92056600-92057000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:92056600-92057200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:92056600-92057200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:92056600-92058000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:92056600-92058000	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:92056800-92057000	Enhancers	Colon Smooth Muscle	Colon
23	chr8:92056800-92057200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:92056800-92057200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr8:92056800-92057600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:92056800-92057800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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