Variant report

Variant	rs6741192
Chromosome Location	chr2:67549274-67549275
allele	C/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	RAD21	chr2:67548017-67552070	SK-N-SH	brain:	n/a	chr2:67549967-67549986 chr2:67549668-67549680
2	EP300	chr2:67549062-67552186	SK-N-SH	brain:	n/a	chr2:67549158-67549172 chr2:67551647-67551661 chr2:67550694-67550704 chr2:67549163-67549177
3	CTCF	chr2:67549268-67551067	SK-N-SH	brain:	n/a	chr2:67549964-67549985 chr2:67549971-67549984 chr2:67549976-67549983

Variant related genes	Relation type
ENSG00000236605	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10496153	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap]
rs1063571	0.92[CEU][hapmap];1.00[MEX][hapmap]
rs13008890	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs13030037	0.92[CEU][hapmap]
rs13030211	0.92[CEU][hapmap]
rs13036061	0.92[CEU][hapmap]
rs17545245	0.92[CEU][hapmap]
rs2170703	0.84[AMR][1000 genomes]
rs4274583	0.89[EUR][1000 genomes]
rs4605358	0.81[EUR][1000 genomes]
rs56880806	0.89[EUR][1000 genomes]
rs58349979	0.84[AMR][1000 genomes]
rs60181254	0.89[EUR][1000 genomes]
rs62156547	0.84[AMR][1000 genomes]
rs62158280	0.86[EUR][1000 genomes]
rs62158281	0.89[EUR][1000 genomes]
rs62158282	0.87[EUR][1000 genomes]
rs62158289	0.83[AMR][1000 genomes]
rs7573357	0.89[EUR][1000 genomes]
rs7606736	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs874236	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67539000-67551400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:67539200-67551800	Weak transcription	Fetal Kidney	kidney
3	chr2:67545200-67549600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:67546400-67549400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:67546600-67549600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:67546600-67549600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:67546600-67549600	Weak transcription	Osteobl	bone
8	chr2:67546800-67549600	Weak transcription	Hela-S3	cervix
9	chr2:67546800-67551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:67546800-67552200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:67547400-67552000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:67547600-67550000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:67547800-67549800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:67547800-67550000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:67547800-67550000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:67547800-67550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:67547800-67552200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:67547800-67552600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:67548000-67549600	Enhancers	Colon Smooth Muscle	Colon
20	chr2:67548200-67549600	Weak transcription	NHDF-Ad	bronchial
21	chr2:67548400-67549800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:67548400-67550000	Enhancers	Fetal Brain Female	brain
23	chr2:67548600-67549600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:67548600-67550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:67548600-67551800	Enhancers	Fetal Lung	lung
26	chr2:67548600-67551800	Enhancers	Fetal Stomach	stomach
27	chr2:67548800-67549400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:67548800-67549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:67549000-67549600	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:67549200-67552000	Enhancers	Rectal Smooth Muscle	rectum

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