Variant report

Variant	rs6042674
Chromosome Location	chr20:14311988-14311989
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs204604	0.80[AFR][1000 genomes]
rs204611	0.80[AFR][1000 genomes]
rs204612	1.00[AMR][1000 genomes]
rs204613	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs204623	0.84[AFR][1000 genomes]
rs204624	0.84[AFR][1000 genomes]
rs204626	1.00[YRI][hapmap]
rs204646	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs204649	1.00[AMR][1000 genomes]
rs204653	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs204654	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2327836	1.00[AMR][1000 genomes]
rs2876372	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4052955	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6033939	1.00[AMR][1000 genomes]
rs6033945	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042622	1.00[AMR][1000 genomes]
rs6042662	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042664	1.00[AMR][1000 genomes]
rs6042665	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042702	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6074727	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6079419	1.00[AMR][1000 genomes]
rs6079420	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv458872	chr20:14189779-14317390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv470540	chr20:14189779-14317390	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv585439	chr20:14189779-14317390	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv432101	chr20:14294196-14353346	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1799128	chr20:14309952-14324140	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14294800-14314000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr20:14296000-14312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:14303600-14323400	Weak transcription	Small Intestine	intestine
4	chr20:14304000-14313600	Weak transcription	Fetal Brain Male	brain
5	chr20:14304000-14315600	Weak transcription	HSMMtube	muscle
6	chr20:14304800-14314400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:14305200-14317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:14305400-14314400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:14305800-14317200	Weak transcription	Aorta	Aorta
10	chr20:14306000-14312800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:14306000-14314200	Weak transcription	HSMM	muscle
12	chr20:14306200-14313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:14306600-14312000	Weak transcription	Brain Anterior Caudate	brain
14	chr20:14306800-14315800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr20:14307200-14312000	Weak transcription	Brain Angular Gyrus	brain
16	chr20:14307200-14315600	Weak transcription	Fetal Lung	lung
17	chr20:14307400-14314200	Weak transcription	A549	lung
18	chr20:14307400-14317200	Weak transcription	Lung	lung
19	chr20:14307800-14314000	Weak transcription	NHLF	lung
20	chr20:14307800-14314200	Weak transcription	Fetal Muscle Leg	muscle
21	chr20:14307800-14314200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr20:14307800-14315800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr20:14308000-14313600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr20:14308200-14312000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:14308200-14312000	Weak transcription	Brain Hippocampus Middle	brain
26	chr20:14308200-14312200	Weak transcription	Fetal Intestine Small	intestine
27	chr20:14308200-14312200	Weak transcription	Fetal Kidney	kidney
28	chr20:14308200-14312400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr20:14308200-14313400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:14308200-14313400	Weak transcription	Colon Smooth Muscle	Colon
31	chr20:14308200-14313600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:14308200-14313600	Weak transcription	Fetal Stomach	stomach
33	chr20:14308200-14313600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr20:14308200-14314400	Weak transcription	Brain Substantia Nigra	brain
35	chr20:14308200-14314400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr20:14308200-14317200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:14308200-14317200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr20:14308200-14317200	Weak transcription	Pancreas	Pancrea
39	chr20:14308400-14313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr20:14309000-14312800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:14309600-14313400	Weak transcription	Liver	Liver
42	chr20:14309600-14317200	Weak transcription	Gastric	stomach
43	chr20:14309800-14312400	Weak transcription	Fetal Intestine Large	intestine
44	chr20:14309800-14313400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:14309800-14313600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr20:14309800-14313600	Weak transcription	Ovary	ovary
47	chr20:14310000-14313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:14310000-14314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:14310600-14312200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr20:14310600-14314200	Weak transcription	Muscle Satellite Cultured Cells	--

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