Variant report

Variant	rs1318691
Chromosome Location	chr6:33761884-33761885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33761831-33762027	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:33761667-33762117	HUVEC	blood vessel:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33754496..33759383-chr6:33759533..33763241,9	K562	blood:
2	chr6:33760052..33762868-chr6:33807891..33810024,2	MCF-7	breast:
3	chr6:33710782..33712479-chr6:33760281..33762991,2	MCF-7	breast:
4	chr6:33759898..33762472-chr6:33773491..33776525,3	K562	blood:
5	chr6:33750065..33752378-chr6:33760799..33763522,2	MCF-7	breast:
6	chr6:33760609..33762790-chr6:33764065..33767376,3	K562	blood:
7	chr6:33761243..33763447-chr6:33764378..33766723,2	MCF-7	breast:
8	chr6:33699067..33701380-chr6:33760767..33763233,2	MCF-7	breast:
9	chr6:33759914..33762466-chr6:33790813..33792897,2	MCF-7	breast:
10	chr6:33756053..33759472-chr6:33760488..33763867,4	MCF-7	breast:
11	chr6:33760837..33764079-chr6:33785814..33788727,4	MCF-7	breast:

No data

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10755683	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10947436	0.88[EUR][1000 genomes]
rs11751943	0.87[EUR][1000 genomes]
rs1536500	0.82[EUR][1000 genomes]
rs1536501	0.85[EUR][1000 genomes]
rs1998949	0.82[EUR][1000 genomes]
rs2182658	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182659	0.88[EUR][1000 genomes]
rs2395399	0.83[ASN][1000 genomes]
rs2395401	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2395446	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395447	0.88[EUR][1000 genomes]
rs4711350	0.88[EUR][1000 genomes]
rs4713676	0.87[EUR][1000 genomes]
rs4713685	0.83[ASN][1000 genomes]
rs4996879	0.83[EUR][1000 genomes]
rs6921772	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7449707	0.86[EUR][1000 genomes]
rs751727	0.88[EUR][1000 genomes]
rs756138	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756139	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739273	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752348	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9380379	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs943464	0.85[EUR][1000 genomes]
rs943465	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943472	0.87[EUR][1000 genomes]
rs943473	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461905	0.82[EUR][1000 genomes]
rs9461907	0.82[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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr6:33757600-33762400	Weak transcription	A549	lung
2	chr6:33757600-33763600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
4	chr6:33758000-33762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:33758400-33763600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:33759000-33762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:33759000-33765600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:33759200-33763600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:33759400-33762200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:33759400-33762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:33759400-33762600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:33759400-33762800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:33759600-33762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:33760000-33762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:33760400-33763600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:33760400-33763600	Bivalent Enhancer	HepG2	liver
17	chr6:33760600-33763600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:33760800-33762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:33761000-33762200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:33761400-33762400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:33761400-33762400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:33761600-33762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:33761600-33762000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:33761600-33762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:33761600-33763200	Enhancers	Fetal Intestine Large	intestine
26	chr6:33761800-33762800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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