Variant report

Variant	rs12700785
Chromosome Location	chr7:27131573-27131574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:27131489-27131815	H1-hESC	embryonic stem cell:	n/a	n/a
2	POU5F1	chr7:27131463-27131960	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr7:27131341-27132336	HEK293	kidney:	n/a	chr7:27131732-27131741
4	GTF2F1	chr7:27131563-27131751	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr7:27131516-27131935	H1-hESC	embryonic stem cell:	n/a	chr7:27131787-27131798
6	MYC	chr7:27131502-27131773	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr7:27131501-27131950	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr7:27131533-27131933	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr7:27131429-27132014	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr7:27131397-27132022	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF7L2	chr7:27131558-27132059	PANC-1	pancreas:	n/a	chr7:27131732-27131741
12	TEAD4	chr7:27131434-27132025	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr7:27131457-27131999	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27130510..27132396-chr7:27169809..27171499,2	MCF-7	breast:
2	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
3	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
4	chr7:27129791..27131817-chr7:27132172..27134297,2	MCF-7	breast:
5	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:

No data

Variant related genes	Relation type
HOTAIRM1	TF binding region
ENSG00000243766	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000213786	Chromatin interaction
ENSG00000197576	Chromatin interaction
ENSG00000253508	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10257437	0.82[CEU][hapmap]
rs10257464	0.82[CEU][hapmap]
rs10276952	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977871	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12673984	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12674308	0.85[ASN][1000 genomes]
rs13230726	0.83[EUR][1000 genomes]
rs17427218	0.91[ASN][1000 genomes]
rs17437154	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs17448911	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs17500459	0.87[AFR][1000 genomes]
rs213516	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2259141	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2301719	0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2693660	0.93[CEU][hapmap]
rs2693661	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2712235	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs2712249	0.86[AFR][1000 genomes]
rs28357116	0.87[ASN][1000 genomes]
rs62454362	0.87[ASN][1000 genomes]
rs62454371	0.84[ASN][1000 genomes]
rs62454372	0.89[ASN][1000 genomes]
rs62454374	0.89[ASN][1000 genomes]
rs62454375	0.89[ASN][1000 genomes]
rs62457404	0.86[ASN][1000 genomes]
rs6948446	0.91[ASN][1000 genomes]
rs6953314	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs774252	0.82[CEU][hapmap]
rs774253	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7791056	0.82[CEU][hapmap]
rs7797624	0.87[AFR][1000 genomes]
rs954051	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887858	chr7:27127231-27188659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv887860	chr7:27127231-27196069	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv887859	chr7:27127231-27196113	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
14	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
18	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
19	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
20	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12700785	DFNA5	cis	cerebellum	SCAN
rs12700785	HOXA2	Cis_1M	lymphoblastoid	RTeQTL
rs12700785	HOXA10	cis	parietal	SCAN
rs12700785	STK31	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27122800-27133600	Weak transcription	HMEC	breast
2	chr7:27128200-27133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:27128200-27133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:27128400-27133000	Weak transcription	NHEK	skin
5	chr7:27128600-27135000	Weak transcription	NHLF	lung
6	chr7:27129200-27134000	Bivalent Enhancer	Fetal Kidney	kidney
7	chr7:27129800-27134400	Bivalent Enhancer	Fetal Lung	lung
8	chr7:27130200-27132400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:27130200-27132800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr7:27130400-27132000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:27130400-27134000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:27130600-27131600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr7:27130600-27131600	Enhancers	HepG2	liver
14	chr7:27130800-27132200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr7:27131000-27134000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:27131200-27131600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr7:27131200-27132400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr7:27131200-27134600	Weak transcription	A549	lung
19	chr7:27131400-27131600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr7:27131400-27131800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr7:27131400-27131800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr7:27131400-27132400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr7:27131400-27132600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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