Variant report

Variant	rs61422194
Chromosome Location	chr20:13475739-13475740
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56349038	0.93[AFR][1000 genomes]
rs73899333	0.86[AFR][1000 genomes]
rs73899345	0.89[AFR][1000 genomes]
rs73899346	0.89[AFR][1000 genomes]
rs73901122	0.81[AFR][1000 genomes]
rs73901123	0.90[AFR][1000 genomes]
rs73901154	0.93[AFR][1000 genomes]
rs73901158	0.93[AFR][1000 genomes]
rs73901163	0.87[AFR][1000 genomes]
rs73901174	1.00[AFR][1000 genomes]
rs73901175	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13395600-13477800	Weak transcription	Gastric	stomach
2	chr20:13462200-13477800	Weak transcription	Thymus	Thymus
3	chr20:13463400-13480200	Weak transcription	Brain Angular Gyrus	brain
4	chr20:13463800-13481200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr20:13463800-13505400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr20:13464000-13479000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr20:13464000-13493800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr20:13464200-13475800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:13464200-13477800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr20:13464200-13478000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr20:13464200-13479200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:13464200-13480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr20:13464200-13483400	Weak transcription	Fetal Thymus	thymus
14	chr20:13464400-13479400	Weak transcription	Primary B cells from cord blood	blood
15	chr20:13465400-13480000	Strong transcription	Dnd41	blood
16	chr20:13467800-13477800	Weak transcription	Primary T cells from cord blood	blood
17	chr20:13468000-13483600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:13468200-13477800	Weak transcription	Aorta	Aorta
19	chr20:13468200-13481200	Weak transcription	Liver	Liver
20	chr20:13468200-13483600	Weak transcription	Right Ventricle	heart
21	chr20:13469600-13476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:13470200-13505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:13471000-13481000	Weak transcription	HepG2	liver
24	chr20:13471800-13480000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:13471800-13483400	Weak transcription	Fetal Intestine Small	intestine
26	chr20:13473000-13480600	Weak transcription	NHLF	lung
27	chr20:13473200-13475800	Weak transcription	Fetal Lung	lung
28	chr20:13473200-13476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:13473200-13478800	Weak transcription	Fetal Stomach	stomach
30	chr20:13473400-13475800	Weak transcription	Adipose Nuclei	Adipose
31	chr20:13473400-13479800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr20:13473400-13480800	Weak transcription	Osteobl	bone
33	chr20:13473400-13505800	Weak transcription	HSMM	muscle
34	chr20:13473800-13477600	Weak transcription	A549	lung
35	chr20:13474000-13482000	Weak transcription	HMEC	breast
36	chr20:13474200-13479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:13474200-13482600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr20:13474400-13476000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr20:13474400-13477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr20:13474400-13479800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:13474400-13483000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr20:13474400-13483600	Weak transcription	Left Ventricle	heart
43	chr20:13474400-13496800	Weak transcription	Pancreas	Pancrea
44	chr20:13474600-13475800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr20:13474800-13477400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr20:13474800-13477800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:13475400-13475800	Weak transcription	Fetal Kidney	kidney
48	chr20:13475400-13476200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:13475400-13476200	Enhancers	Colon Smooth Muscle	Colon
50	chr20:13475400-13479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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