Variant report

Variant	rs1891147
Chromosome Location	chr6:128753978-128753979
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	GATA3	chr6:128753281-128754083	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr6:128753399-128753990	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr6:128753348-128754009	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr6:128753392-128754013	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr6:128753355-128754033	SK-N-SH	brain:	n/a	n/a
6	FOSL1	chr6:128753599-128753979	HCT-116	colon:	n/a	n/a
7	JUND	chr6:128753410-128754049	SK-N-SH	brain:	n/a	chr6:128753751-128753762
8	EP300	chr6:128753326-128754015	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000228972	TF binding region

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

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

rs_ID	r²[population]
rs10428737	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12110431	0.93[AFR][1000 genomes]
rs1339193	1.00[CEU][hapmap]
rs1612415	0.85[CEU][hapmap]
rs17055854	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17361665	0.87[EUR][1000 genomes]
rs17459362	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1891146	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1891148	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4466261	0.92[CEU][hapmap]
rs58395468	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59893653	0.89[EUR][1000 genomes]
rs66843622	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6939023	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs722796	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974018	0.84[EUR][1000 genomes]
rs72974042	0.81[EUR][1000 genomes]
rs72974046	1.00[EUR][1000 genomes]
rs72974053	1.00[EUR][1000 genomes]
rs72974060	1.00[EUR][1000 genomes]
rs72974074	1.00[EUR][1000 genomes]
rs72974081	0.81[EUR][1000 genomes]
rs7748155	0.82[YRI][hapmap]
rs7764930	1.00[CEU][hapmap]
rs7774606	0.92[AFR][1000 genomes]
rs9375564	0.89[AFR][1000 genomes]
rs9402035	0.92[YRI][hapmap]
rs946424	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs953549	0.92[CEU][hapmap]
rs961292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128739600-128755600	Weak transcription	Osteobl	bone
2	chr6:128739800-128762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:128740000-128756000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:128740800-128777000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:128743600-128755200	Weak transcription	Brain Substantia Nigra	brain
6	chr6:128743600-128759400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:128743800-128756000	Weak transcription	Fetal Intestine Large	intestine
8	chr6:128744200-128754200	Weak transcription	Brain Angular Gyrus	brain
9	chr6:128744400-128755200	Weak transcription	HepG2	liver
10	chr6:128744600-128758800	Weak transcription	HSMM	muscle
11	chr6:128748200-128759600	Weak transcription	Fetal Stomach	stomach
12	chr6:128748400-128754400	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:128748600-128759200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:128748600-128759200	Weak transcription	Gastric	stomach
15	chr6:128748800-128756000	Weak transcription	Lung	lung
16	chr6:128748800-128759000	Weak transcription	Fetal Heart	heart
17	chr6:128748800-128759400	Weak transcription	Brain Anterior Caudate	brain
18	chr6:128749000-128754600	Weak transcription	Left Ventricle	heart
19	chr6:128749200-128758800	Weak transcription	Ovary	ovary
20	chr6:128751800-128754000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:128752600-128754000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:128752600-128754000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:128752600-128754200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:128752800-128754000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:128752800-128758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:128753000-128754600	Enhancers	HUVEC	blood vessel
27	chr6:128753200-128756600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:128753200-128756600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:128753200-128756600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:128753200-128777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:128753400-128754600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:128753400-128754800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:128753400-128754800	Enhancers	NHEK	skin
34	chr6:128753400-128756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:128753400-128756600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:128753400-128759600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:128753600-128759200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:128753800-128755600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:128753800-128756600	Weak transcription	NHDF-Ad	bronchial

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