Variant report

Variant	rs16903531
Chromosome Location	chr5:37197160-37197161
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37196006..37197813-chr5:37198667..37201494,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10042473	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10061157	0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10073054	0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10461974	0.86[AFR][1000 genomes]
rs10461978	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10512664	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10941321	0.83[ASN][1000 genomes]
rs12055164	0.86[MEX][hapmap];0.85[TSI][hapmap]
rs125682	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs12652735	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12652882	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658479	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154730	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13160521	0.86[MEX][hapmap]
rs13163937	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13165088	0.86[MEX][hapmap];0.85[TSI][hapmap]
rs13166067	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13166829	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13166974	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13169211	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13171061	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13171414	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13176996	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13177573	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13177875	0.87[AFR][1000 genomes]
rs13179402	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13181187	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13184464	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13188136	0.93[AFR][1000 genomes]
rs13189308	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2098713	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs217838	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs217840	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2366273	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs301863	0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs301867	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs301869	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs34525350	0.93[AFR][1000 genomes]
rs35151340	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59398009	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61748200	0.93[AFR][1000 genomes]
rs6451313	0.84[ASN][1000 genomes]
rs6860727	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6879284	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887958	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7711452	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9632396	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9637791	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16903531	UGT3A2	cis	cerebellum	SCAN
rs16903531	WDR70	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
2	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
3	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:37147200-37200600	Strong transcription	HSMM	muscle
5	chr5:37151600-37197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:37159600-37197400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:37161000-37207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:37161200-37197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:37162600-37197400	Strong transcription	Adipose Nuclei	Adipose
10	chr5:37166400-37198400	Weak transcription	Stomach Mucosa	stomach
11	chr5:37166400-37213600	Weak transcription	HepG2	liver
12	chr5:37166600-37197400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:37169600-37197200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
15	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:37171400-37209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:37171600-37197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:37171600-37208200	Weak transcription	Gastric	stomach
19	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
20	chr5:37172200-37197200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:37172200-37207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:37173400-37197400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:37173400-37197400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:37173400-37209200	Weak transcription	NHEK	skin
26	chr5:37174000-37197200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:37174200-37197400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:37175400-37209000	Weak transcription	Colonic Mucosa	Colon
30	chr5:37175400-37209000	Weak transcription	Esophagus	oesophagus
31	chr5:37175600-37209000	Weak transcription	Right Ventricle	heart
32	chr5:37176800-37197400	Weak transcription	Primary T cells from cord blood	blood
33	chr5:37178000-37197400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:37178000-37197600	Weak transcription	NHLF	lung
35	chr5:37178200-37203400	Weak transcription	Fetal Brain Male	brain
36	chr5:37178600-37209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:37180800-37202800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:37183400-37200200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:37183600-37214800	Weak transcription	A549	lung
40	chr5:37184200-37200400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:37184200-37200400	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:37184400-37214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:37185200-37197200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:37185200-37197400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:37185200-37226000	Weak transcription	HMEC	breast
46	chr5:37185400-37197200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:37185400-37197400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:37185600-37197400	Weak transcription	Primary B cells from cord blood	blood
49	chr5:37186400-37220600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:37188000-37213400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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