Variant report

Variant	rs17613166
Chromosome Location	chr1:227404838-227404839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227400709..227402426-chr1:227403946..227405462,2	K562	blood:
2	chr1:227367936..227369654-chr1:227404389..227406175,2	K562	blood:
3	chr1:227402647..227405396-chr1:227406531..227409406,3	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1015815	0.93[EUR][1000 genomes]
rs1015816	0.91[EUR][1000 genomes]
rs10495263	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs10495269	0.80[AMR][1000 genomes]
rs10916109	0.96[EUR][1000 genomes]
rs10916114	0.94[EUR][1000 genomes]
rs11799413	1.00[CEU][hapmap]
rs11800062	0.82[EUR][1000 genomes]
rs11801994	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11803590	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11803761	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11805298	0.93[EUR][1000 genomes]
rs11806511	0.91[EUR][1000 genomes]
rs11806937	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11808928	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11810328	0.94[EUR][1000 genomes]
rs11811358	0.93[EUR][1000 genomes]
rs12401963	1.00[CEU][hapmap]
rs12402456	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403833	0.90[CEU][hapmap]
rs12403986	0.95[EUR][1000 genomes]
rs12405363	0.92[EUR][1000 genomes]
rs12405686	1.00[CEU][hapmap]
rs12405878	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs12408913	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12410327	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12410337	1.00[CEU][hapmap]
rs12410460	1.00[CEU][hapmap]
rs12741049	0.86[EUR][1000 genomes]
rs1464076	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1464077	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1513602	0.98[EUR][1000 genomes]
rs1513603	0.93[EUR][1000 genomes]
rs1546557	0.94[EUR][1000 genomes]
rs1606549	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16846855	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs16846972	1.00[CEU][hapmap]
rs16846985	1.00[CEU][hapmap]
rs16847014	1.00[CEU][hapmap]
rs16847035	1.00[CEU][hapmap]
rs16847098	1.00[CEU][hapmap]
rs16847107	1.00[CEU][hapmap]
rs16847492	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847634	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1877622	1.00[CEU][hapmap]
rs1888831	1.00[CEU][hapmap]
rs34263105	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34400564	0.93[EUR][1000 genomes]
rs34953255	0.80[AMR][1000 genomes]
rs41270149	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4255349	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4282782	0.94[EUR][1000 genomes]
rs4300186	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4354510	0.92[EUR][1000 genomes]
rs4434814	0.94[EUR][1000 genomes]
rs4437846	0.93[EUR][1000 genomes]
rs4518864	0.94[EUR][1000 genomes]
rs4543764	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55805110	0.94[EUR][1000 genomes]
rs55882852	0.93[EUR][1000 genomes]
rs55946024	0.98[EUR][1000 genomes]
rs57276421	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57758974	0.94[EUR][1000 genomes]
rs58489467	0.96[EUR][1000 genomes]
rs59116340	0.93[EUR][1000 genomes]
rs59121440	0.94[EUR][1000 genomes]
rs59859849	0.98[EUR][1000 genomes]
rs60068245	0.94[EUR][1000 genomes]
rs60235610	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60742095	0.93[EUR][1000 genomes]
rs60958272	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61081394	0.94[EUR][1000 genomes]
rs61522132	0.93[EUR][1000 genomes]
rs6659506	0.94[EUR][1000 genomes]
rs6668367	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6675521	1.00[YRI][hapmap]
rs73086746	0.82[EUR][1000 genomes]
rs73086752	0.82[EUR][1000 genomes]
rs73086775	0.82[EUR][1000 genomes]
rs73088658	0.93[EUR][1000 genomes]
rs73090612	0.93[EUR][1000 genomes]
rs73094351	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73094393	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73094400	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73096317	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73096350	0.96[EUR][1000 genomes]
rs73096353	0.96[EUR][1000 genomes]
rs73096358	0.94[EUR][1000 genomes]
rs73096374	0.95[EUR][1000 genomes]
rs73098390	0.92[EUR][1000 genomes]
rs73098398	0.92[EUR][1000 genomes]
rs73100852	0.81[EUR][1000 genomes]
rs73102307	0.92[EUR][1000 genomes]
rs73102915	0.81[EUR][1000 genomes]
rs7413768	0.82[EUR][1000 genomes]
rs74140153	0.94[EUR][1000 genomes]
rs74143321	0.81[EUR][1000 genomes]
rs7515739	0.94[EUR][1000 genomes]
rs7519099	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7526283	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7534286	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7535010	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7539037	0.93[EUR][1000 genomes]
rs7539750	0.93[EUR][1000 genomes]
rs7542505	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7544923	0.96[EUR][1000 genomes]
rs7545775	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7551556	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17613166	RHOU	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
2	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
4	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:227375600-227410800	Weak transcription	HepG2	liver
8	chr1:227376600-227412600	Weak transcription	Fetal Lung	lung
9	chr1:227380200-227405200	Weak transcription	Gastric	stomach
10	chr1:227380200-227421800	Weak transcription	Ovary	ovary
11	chr1:227380400-227406800	Weak transcription	NHDF-Ad	bronchial
12	chr1:227381600-227406600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:227382000-227414000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:227383600-227421800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
16	chr1:227386400-227413800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:227386800-227406600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:227387000-227413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:227387400-227414000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:227390600-227413600	Weak transcription	Small Intestine	intestine
21	chr1:227396800-227413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:227397000-227406800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:227398200-227413600	Weak transcription	NHLF	lung
24	chr1:227398600-227407000	Weak transcription	Lung	lung
25	chr1:227398800-227405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:227398800-227407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:227398800-227411200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:227398800-227413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:227399000-227408800	Weak transcription	Liver	Liver
32	chr1:227399200-227406800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:227399200-227407000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:227399400-227411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:227399400-227415400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:227399600-227413200	Weak transcription	HSMM	muscle
37	chr1:227399800-227407000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:227399800-227411000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:227400400-227406600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:227400400-227406600	Weak transcription	Right Ventricle	heart
41	chr1:227400400-227407600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:227400400-227408200	Weak transcription	K562	blood
43	chr1:227400400-227410800	Weak transcription	Brain Angular Gyrus	brain
44	chr1:227400400-227410800	Weak transcription	Brain Substantia Nigra	brain
45	chr1:227400400-227413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:227400400-227413000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:227400400-227426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:227400600-227413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:227400600-227413000	Weak transcription	NHEK	skin
50	chr1:227400800-227412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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