Variant report

Variant	rs6816893
Chromosome Location	chr4:106477417-106477418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106471957..106473637-chr4:106475938..106478326,2	MCF-7	breast:
2	chr4:106474325..106476444-chr4:106476458..106478164,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250522	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10001434	0.98[EUR][1000 genomes]
rs10001614	0.98[EUR][1000 genomes]
rs10007801	0.98[EUR][1000 genomes]
rs10014771	0.98[EUR][1000 genomes]
rs10016616	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10024863	1.00[CEU][hapmap]
rs10025663	0.98[EUR][1000 genomes]
rs10032241	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10470907	0.98[EUR][1000 genomes]
rs10488942	0.87[CEU][hapmap];0.98[EUR][1000 genomes]
rs11938316	0.93[EUR][1000 genomes]
rs1490596	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1490597	0.98[EUR][1000 genomes]
rs1490598	0.98[EUR][1000 genomes]
rs17035687	0.98[EUR][1000 genomes]
rs17035704	0.98[EUR][1000 genomes]
rs17035711	0.98[EUR][1000 genomes]
rs17035736	0.93[YRI][hapmap];0.94[AFR][1000 genomes]
rs2107046	0.98[EUR][1000 genomes]
rs2158202	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs28380268	0.98[EUR][1000 genomes]
rs28422499	0.87[EUR][1000 genomes]
rs28444199	0.93[EUR][1000 genomes]
rs28462162	0.98[EUR][1000 genomes]
rs28634484	0.98[EUR][1000 genomes]
rs2866800	0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs28678184	0.98[EUR][1000 genomes]
rs28687111	0.98[EUR][1000 genomes]
rs28707788	0.98[EUR][1000 genomes]
rs28754790	0.98[EUR][1000 genomes]
rs3948725	0.98[EUR][1000 genomes]
rs56068525	0.98[EUR][1000 genomes]
rs6817444	0.98[EUR][1000 genomes]
rs6825245	0.98[EUR][1000 genomes]
rs6834374	0.98[EUR][1000 genomes]
rs6858204	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs730207	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs730208	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs730850	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7661571	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1005011	chr4:106461690-106496019	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1013019	chr4:106461690-106501412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv524424	chr4:106466128-106491511	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv461610	chr4:106466128-106491511	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv595008	chr4:106466128-106491511	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv517837	chr4:106466588-106502513	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106472200-106477600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr4:106473600-106477600	Active TSS	Fetal Intestine Large	intestine
3	chr4:106473600-106477600	Weak transcription	Gastric	stomach
4	chr4:106474800-106479400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:106476200-106477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:106476200-106478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:106476400-106477600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:106476600-106477600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr4:106476600-106478000	Enhancers	Stomach Mucosa	stomach
10	chr4:106476600-106478200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr4:106476600-106478200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:106476800-106480400	Weak transcription	Pancreas	Pancrea
13	chr4:106477000-106477800	Enhancers	Fetal Kidney	kidney
14	chr4:106477200-106478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:106477200-106478000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr4:106477200-106478000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr4:106477200-106479600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr4:106477400-106477600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr4:106477400-106477600	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:106477400-106477800	Enhancers	Fetal Lung	lung
21	chr4:106477400-106478000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:106477400-106480400	Enhancers	Fetal Intestine Small	intestine

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