Variant report

Variant	rs6816859
Chromosome Location	chr4:187650634-187650635
allele	A/G
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	FOSL1	chr4:187646504-187650649	HCT-116	colon:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187647502-187647510 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
2	CEBPB	chr4:187648934-187650710	HCT-116	colon:	n/a	n/a
3	JUND	chr4:187648806-187650644	HCT-116	colon:	n/a	chr4:187650124-187650134 chr4:187650307-187650319 chr4:187650124-187650134 chr4:187650409-187650420 chr4:187650309-187650317 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650124-187650134 chr4:187650308-187650318 chr4:187650125-187650133
4	SP1	chr4:187648699-187650734	HCT-116	colon:	n/a	chr4:187649232-187649246
5	STAT3	chr4:187649766-187650674	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr4:187648956-187650770	HCT-116	colon:	n/a	n/a
7	SIN3AK20	chr4:187645874-187650702	HCT-116	colon:	n/a	n/a
8	MAX	chr4:187648665-187650706	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
2	chr4:187642627..187645169-chr4:187647943..187651570,4	MCF-7	breast:

Variant related genes	Relation type
FAT1	TF binding region
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11132407	0.83[ASN][1000 genomes]
rs57277221	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62342738	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv822893	chr4:187642198-187652700	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187648800-187651200	Enhancers	Hela-S3	cervix
2	chr4:187649000-187652200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:187649000-187654800	Weak transcription	Aorta	Aorta
4	chr4:187649400-187651600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:187649400-187651800	Enhancers	Fetal Intestine Large	intestine
6	chr4:187649600-187651200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:187649600-187652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:187649600-187652200	Enhancers	Stomach Mucosa	stomach
9	chr4:187649600-187652400	Enhancers	HepG2	liver
10	chr4:187649800-187651400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:187650000-187650800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:187650000-187651200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:187650000-187651400	Enhancers	Adipose Nuclei	Adipose
14	chr4:187650000-187652400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:187650200-187651800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:187650200-187652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:187650200-187652400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:187650200-187652400	Enhancers	Fetal Intestine Small	intestine
19	chr4:187650400-187651000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:187650400-187655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:187650400-187657000	Weak transcription	HSMM	muscle
22	chr4:187650400-187660800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:187650600-187652200	Enhancers	A549	lung
24	chr4:187650600-187652400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:187650600-187652400	Enhancers	HMEC	breast
26	chr4:187650600-187652400	Enhancers	NHEK	skin
27	chr4:187650600-187652800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:187650600-187657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:187650600-187657000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:187650600-187660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:187650600-187661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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