Variant report

Variant	rs4711355
Chromosome Location	chr6:33759906-33759907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33759664-33760004	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33754496..33759383-chr6:33759533..33763241,9	K562	blood:
2	chr6:33759898..33762472-chr6:33773491..33776525,3	K562	blood:
3	chr6:33758412..33760501-chr6:33767524..33770306,2	MCF-7	breast:
4	chr6:33758565..33760342-chr6:33771227..33773397,2	MCF-7	breast:

Variant related genes	Relation type
LEMD2	TF binding region
ENSG00000096395	Chromatin interaction
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12173787	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12190029	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2013365	0.90[AFR][1000 genomes]
rs2281820	0.90[EUR][1000 genomes]
rs2296744	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2296746	0.81[AFR][1000 genomes]
rs2296747	0.93[AFR][1000 genomes]
rs2296748	0.81[AFR][1000 genomes]
rs2395402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711347	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711348	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711349	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713678	0.81[EUR][1000 genomes]
rs4713679	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4713681	0.93[AFR][1000 genomes]
rs6457741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747694	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs751728	0.88[AFR][1000 genomes]
rs7774620	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9357164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380378	0.89[AFR][1000 genomes]
rs9394166	0.81[AFR][1000 genomes]
rs9394167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943471	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33757000-33760000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:33757000-33760200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:33757200-33760000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:33757400-33761400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:33757600-33760200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:33757600-33760800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:33757600-33761000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:33757600-33762400	Weak transcription	A549	lung
9	chr6:33757600-33763600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
11	chr6:33758000-33760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:33758000-33762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:33758400-33763600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:33758800-33760000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:33759000-33760200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:33759000-33761000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:33759000-33762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:33759000-33765600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:33759200-33763600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:33759400-33760600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:33759400-33761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:33759400-33762200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:33759400-33762600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:33759400-33762600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:33759400-33762800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:33759600-33762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:33759800-33760000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:33759800-33760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:33759800-33761600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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