Variant report

Variant	rs6787972
Chromosome Location	chr3:46427835-46427836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46130909..46132770-chr3:46427115..46429449,2	K562	blood:
2	chr3:46427138..46428924-chr3:46441384..46443422,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1140865	0.98[EUR][1000 genomes]
rs11574428	0.98[EUR][1000 genomes]
rs11574429	0.98[EUR][1000 genomes]
rs11574434	0.98[EUR][1000 genomes]
rs11574435	0.83[EUR][1000 genomes]
rs11575821	0.98[EUR][1000 genomes]
rs2157061	0.98[EUR][1000 genomes]
rs2157062	0.96[EUR][1000 genomes]
rs2856758	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3092960	0.89[EUR][1000 genomes]
rs3136535	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34291293	0.97[EUR][1000 genomes]
rs34445878	0.98[EUR][1000 genomes]
rs34971514	0.97[EUR][1000 genomes]
rs35388950	0.97[EUR][1000 genomes]
rs41490645	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4452362	0.81[EUR][1000 genomes]
rs57093591	0.89[EUR][1000 genomes]
rs6770674	0.98[EUR][1000 genomes]
rs6782522	0.98[EUR][1000 genomes]
rs6791789	0.97[EUR][1000 genomes]
rs6798291	0.98[EUR][1000 genomes]
rs6808835	0.98[EUR][1000 genomes]
rs762790	0.90[EUR][1000 genomes]
rs7652037	0.98[EUR][1000 genomes]
rs916094	0.97[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv10267	chr3:46423130-46440713	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46422200-46435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
3	chr3:46422600-46435200	Weak transcription	Right Atrium	heart
4	chr3:46422800-46429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:46424400-46428200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:46424400-46428200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:46424400-46428200	Enhancers	Fetal Thymus	thymus
8	chr3:46424400-46428800	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:46425200-46435600	Weak transcription	Lung	lung
10	chr3:46425400-46428800	Weak transcription	Placenta	Placenta
11	chr3:46425400-46441800	Weak transcription	Stomach Mucosa	stomach
12	chr3:46425600-46428200	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:46425800-46428200	Enhancers	Primary B cells from cord blood	blood
14	chr3:46425800-46429400	Enhancers	Dnd41	blood
15	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:46426600-46435200	Weak transcription	Spleen	Spleen
17	chr3:46426600-46435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:46426800-46428200	Enhancers	Fetal Intestine Large	intestine
19	chr3:46426800-46428200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:46427000-46428800	Enhancers	HMEC	breast
21	chr3:46427400-46428200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:46427400-46428200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:46427400-46428800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:46427400-46429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:46427600-46428000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:46427600-46428000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:46427600-46428000	Enhancers	Adipose Nuclei	Adipose
28	chr3:46427600-46428000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr3:46427600-46428000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:46427600-46428000	Enhancers	HSMMtube	muscle
31	chr3:46427600-46428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:46427600-46428200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:46427600-46428200	Enhancers	Pancreas	Pancrea
34	chr3:46427600-46428200	Enhancers	HSMM	muscle
35	chr3:46427600-46428200	Enhancers	K562	blood
36	chr3:46427600-46428200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr3:46427600-46428400	Enhancers	HUVEC	blood vessel
38	chr3:46427600-46429000	Enhancers	Hela-S3	cervix
39	chr3:46427800-46428000	Enhancers	Primary T cells from cord blood	blood
40	chr3:46427800-46428000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr3:46427800-46428000	Enhancers	Brain Angular Gyrus	brain
42	chr3:46427800-46428000	Enhancers	Colonic Mucosa	Colon
43	chr3:46427800-46428000	Active TSS	Osteobl	bone
44	chr3:46427800-46428200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:46427800-46428200	Enhancers	Esophagus	oesophagus
46	chr3:46427800-46428200	Flanking Active TSS	NHEK	skin

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