Variant report

Variant	rs204605
Chromosome Location	chr20:14317390-14317391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1040826	0.88[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap]
rs17263597	0.85[CHB][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap]
rs1998238	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs2038505	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs204606	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs204608	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs204617	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap]
rs204625	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs204632	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs204633	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204638	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs204639	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs204643	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2208453	0.85[CHB][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2208455	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2256118	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2327841	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap]
rs2327842	0.94[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2327843	0.81[AMR][1000 genomes]
rs2327845	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2423779	0.90[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2876376	0.81[ASN][1000 genomes]
rs370158	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs382674	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4384860	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4814293	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs485293	0.82[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs6033926	0.95[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6033927	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap]
rs6033931	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs6033932	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033933	0.95[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6033941	0.82[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6042613	0.81[CHB][hapmap]
rs6042629	0.95[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6042630	0.94[JPT][hapmap]
rs6042642	0.95[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs6042648	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042652	0.84[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042653	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042669	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6074719	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6074720	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6074721	0.89[ASN][1000 genomes]
rs6074722	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6079355	0.85[CHB][hapmap]
rs6079380	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6110206	0.81[CHB][hapmap]
rs6135113	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs615331	0.82[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap]
rs717327	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs718705	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7263144	0.82[CEU][hapmap]
rs8123052	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs982553	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs982554	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs994567	0.82[CEU][hapmap];0.85[CHB][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs204605	KIF16B	cis	parietal	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14303600-14323400	Weak transcription	Small Intestine	intestine
2	chr20:14311800-14317400	Active TSS	Brain Germinal Matrix	brain
3	chr20:14311800-14318600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr20:14312200-14318400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:14312800-14318400	Active TSS	HMEC	breast
6	chr20:14313200-14318400	Active TSS	Fetal Intestine Large	intestine
7	chr20:14313400-14318400	Active TSS	Fetal Intestine Small	intestine
8	chr20:14313400-14318600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:14313600-14318400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:14313600-14318400	Active TSS	Brain Anterior Caudate	brain
11	chr20:14313600-14318400	Active TSS	Brain Hippocampus Middle	brain
12	chr20:14313600-14318400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr20:14313600-14318400	Active TSS	Colon Smooth Muscle	Colon
14	chr20:14313600-14318400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr20:14313600-14318400	Active TSS	Fetal Stomach	stomach
16	chr20:14313600-14318600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:14313600-14318600	Active TSS	Brain Angular Gyrus	brain
18	chr20:14313600-14318600	Active TSS	Stomach Smooth Muscle	stomach
19	chr20:14313800-14318400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:14313800-14318400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr20:14313800-14318600	Active TSS	Fetal Kidney	kidney
22	chr20:14313800-14318800	Active TSS	Ovary	ovary
23	chr20:14314000-14317800	Active TSS	Rectal Smooth Muscle	rectum
24	chr20:14314000-14318400	Active TSS	NHLF	lung
25	chr20:14314200-14318400	Active TSS	Fetal Muscle Leg	muscle
26	chr20:14314400-14318400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:14314400-14318400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr20:14314400-14318400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr20:14314400-14318400	Active TSS	Duodenum Mucosa	Duodenum
30	chr20:14314400-14318400	Active TSS	Fetal Heart	heart
31	chr20:14314400-14318600	Active TSS	Brain Cingulate Gyrus	brain
32	chr20:14314600-14318400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:14314800-14318400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:14314800-14318600	Active TSS	A549	lung
35	chr20:14315000-14318400	Active TSS	NHEK	skin
36	chr20:14315200-14318400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:14315600-14318600	Active TSS	NHDF-Ad	bronchial
38	chr20:14315800-14318400	Active TSS	Fetal Brain Male	brain
39	chr20:14315800-14318400	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr20:14316000-14317400	Weak transcription	Adipose Nuclei	Adipose
41	chr20:14316000-14317400	Weak transcription	HSMMtube	muscle
42	chr20:14316000-14318000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr20:14316000-14318400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr20:14316000-14318400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr20:14316000-14318400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr20:14316400-14318400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr20:14316600-14317400	Active TSS	Fetal Lung	lung
48	chr20:14316600-14318600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr20:14317000-14317400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr20:14317000-14317600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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