Variant report

Variant	rs7535010
Chromosome Location	chr1:227374302-227374303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227365251..227367190-chr1:227371984..227375259,3	K562	blood:
2	chr1:227373675..227376391-chr1:227377073..227380557,3	K562	blood:
3	chr1:227365251..227368587-chr1:227371984..227374314,3	K562	blood:

Variant related genes	Relation type
ENSG00000228625	Chromatin interaction

Extended variants
information (count: 179 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs1015815	0.88[EUR][1000 genomes]
rs1015816	0.86[EUR][1000 genomes]
rs10495258	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10495263	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10495266	0.82[EUR][1000 genomes]
rs10495269	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10495270	0.84[EUR][1000 genomes]
rs10916109	0.92[EUR][1000 genomes]
rs10916114	0.90[EUR][1000 genomes]
rs11799413	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11800062	0.86[EUR][1000 genomes]
rs11801994	0.93[EUR][1000 genomes]
rs11802395	0.82[EUR][1000 genomes]
rs11803590	0.93[EUR][1000 genomes]
rs11803761	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11805298	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11806511	0.86[EUR][1000 genomes]
rs11806820	0.82[EUR][1000 genomes]
rs11806937	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11808186	0.82[EUR][1000 genomes]
rs11808928	0.93[EUR][1000 genomes]
rs11809998	0.84[EUR][1000 genomes]
rs11810328	0.90[EUR][1000 genomes]
rs11811358	0.88[EUR][1000 genomes]
rs12401556	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12401963	1.00[CEU][hapmap]
rs12402456	0.93[EUR][1000 genomes]
rs12403391	0.82[EUR][1000 genomes]
rs12403650	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403833	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12403978	1.00[YRI][hapmap]
rs12403986	0.91[EUR][1000 genomes]
rs12404219	1.00[YRI][hapmap]
rs12404494	0.82[EUR][1000 genomes]
rs12404627	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12405363	0.87[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];0.82[EUR][1000 genomes]
rs12407061	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408437	0.82[EUR][1000 genomes]
rs12408913	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12409816	0.81[EUR][1000 genomes]
rs12410327	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12410337	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12410460	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12411017	0.81[EUR][1000 genomes]
rs12741049	0.82[EUR][1000 genomes]
rs1320493	0.81[EUR][1000 genomes]
rs1464076	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1464077	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1513600	0.82[EUR][1000 genomes]
rs1513602	0.93[EUR][1000 genomes]
rs1513603	0.98[EUR][1000 genomes]
rs1546557	0.90[EUR][1000 genomes]
rs1606549	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16846855	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs16846874	0.82[EUR][1000 genomes]
rs16846877	0.82[EUR][1000 genomes]
rs16846908	0.82[EUR][1000 genomes]
rs16846910	0.82[EUR][1000 genomes]
rs16846911	0.82[EUR][1000 genomes]
rs16846972	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16846985	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16847014	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16847035	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16847098	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16847107	1.00[CEU][hapmap]
rs16847492	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16847634	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17605533	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17613166	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17851754	0.82[EUR][1000 genomes]
rs1877622	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1888831	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2090009	0.82[EUR][1000 genomes]
rs2150869	0.80[EUR][1000 genomes]
rs2150873	0.82[EUR][1000 genomes]
rs2183837	0.82[EUR][1000 genomes]
rs34263105	0.92[EUR][1000 genomes]
rs34400564	0.98[EUR][1000 genomes]
rs34953255	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41270149	0.93[EUR][1000 genomes]
rs41303115	0.82[EUR][1000 genomes]
rs4255349	0.91[EUR][1000 genomes]
rs4282782	0.90[EUR][1000 genomes]
rs4300186	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4354510	0.87[EUR][1000 genomes]
rs4434814	0.90[EUR][1000 genomes]
rs4437846	0.88[EUR][1000 genomes]
rs4518864	0.90[EUR][1000 genomes]
rs4543764	0.85[EUR][1000 genomes]
rs4551563	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55685166	0.82[EUR][1000 genomes]
rs55805110	0.90[EUR][1000 genomes]
rs55865118	0.82[EUR][1000 genomes]
rs55882852	0.88[EUR][1000 genomes]
rs55946024	0.93[EUR][1000 genomes]
rs56834719	0.84[EUR][1000 genomes]
rs57276421	0.93[EUR][1000 genomes]
rs57513303	0.82[EUR][1000 genomes]
rs57758974	0.90[EUR][1000 genomes]
rs58489467	0.92[EUR][1000 genomes]
rs58532064	0.82[EUR][1000 genomes]
rs59116340	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59121440	0.90[EUR][1000 genomes]
rs59859849	0.93[EUR][1000 genomes]
rs60068245	0.90[EUR][1000 genomes]
rs60079575	0.83[EUR][1000 genomes]
rs60235610	0.93[EUR][1000 genomes]
rs60291100	0.82[EUR][1000 genomes]
rs60641481	0.82[EUR][1000 genomes]
rs60742095	0.88[EUR][1000 genomes]
rs60866629	0.84[EUR][1000 genomes]
rs60958272	0.92[EUR][1000 genomes]
rs60979561	0.82[EUR][1000 genomes]
rs61081394	0.90[EUR][1000 genomes]
rs61522132	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6659506	0.90[EUR][1000 genomes]
rs6668367	0.89[EUR][1000 genomes]
rs6675521	1.00[YRI][hapmap]
rs6696791	0.83[EUR][1000 genomes]
rs6696794	0.82[EUR][1000 genomes]
rs73086746	0.86[EUR][1000 genomes]
rs73086752	0.86[EUR][1000 genomes]
rs73086775	0.86[EUR][1000 genomes]
rs73088658	0.98[EUR][1000 genomes]
rs73089755	0.82[EUR][1000 genomes]
rs73089760	0.82[EUR][1000 genomes]
rs73089765	0.82[EUR][1000 genomes]
rs73089770	0.82[EUR][1000 genomes]
rs73090612	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091738	0.82[EUR][1000 genomes]
rs73091740	0.82[EUR][1000 genomes]
rs73091742	0.82[EUR][1000 genomes]
rs73091755	0.82[EUR][1000 genomes]
rs73091759	0.82[EUR][1000 genomes]
rs73091761	0.82[EUR][1000 genomes]
rs73091774	0.82[EUR][1000 genomes]
rs73093463	0.81[EUR][1000 genomes]
rs73093495	0.81[EUR][1000 genomes]
rs73094351	0.91[EUR][1000 genomes]
rs73094393	0.93[EUR][1000 genomes]
rs73094400	0.92[EUR][1000 genomes]
rs73096317	0.92[EUR][1000 genomes]
rs73096350	0.92[EUR][1000 genomes]
rs73096353	0.92[EUR][1000 genomes]
rs73096358	0.89[EUR][1000 genomes]
rs73096374	0.91[EUR][1000 genomes]
rs73098390	0.87[EUR][1000 genomes]
rs73098398	0.87[EUR][1000 genomes]
rs73099023	0.82[EUR][1000 genomes]
rs73099026	0.82[EUR][1000 genomes]
rs73100804	0.82[EUR][1000 genomes]
rs73100814	0.82[EUR][1000 genomes]
rs73100852	0.85[EUR][1000 genomes]
rs73102307	0.87[EUR][1000 genomes]
rs73102915	0.85[EUR][1000 genomes]
rs73102920	0.84[EUR][1000 genomes]
rs73102930	0.84[EUR][1000 genomes]
rs73102936	0.84[EUR][1000 genomes]
rs7413768	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74140153	0.90[EUR][1000 genomes]
rs74140276	0.81[EUR][1000 genomes]
rs74143321	0.85[EUR][1000 genomes]
rs7515739	0.90[EUR][1000 genomes]
rs7519099	0.89[EUR][1000 genomes]
rs7526283	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7534286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539037	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7539750	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7542505	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7544923	0.92[EUR][1000 genomes]
rs7545775	0.92[EUR][1000 genomes]
rs7551556	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[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
rs7535010	RHOU	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
4	chr1:227333400-227381000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
6	chr1:227343200-227400400	Weak transcription	A549	lung
7	chr1:227346800-227379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
11	chr1:227347200-227378000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:227347800-227385800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:227347800-227390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:227348200-227376400	Weak transcription	Fetal Lung	lung
15	chr1:227348200-227377800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:227348200-227377800	Weak transcription	HUVEC	blood vessel
17	chr1:227348200-227379800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:227348200-227398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:227348200-227398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:227348200-227401600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:227348400-227378000	Weak transcription	Liver	Liver
24	chr1:227354800-227374400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:227355000-227374800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:227355400-227379800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:227355400-227386200	Weak transcription	Brain Anterior Caudate	brain
28	chr1:227357600-227374400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:227359200-227379600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:227359400-227374400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:227359400-227379800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:227359400-227379800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:227359400-227379800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:227359400-227389000	Weak transcription	Right Ventricle	heart
35	chr1:227360800-227401200	Weak transcription	Hela-S3	cervix
36	chr1:227362800-227377600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:227362800-227377800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:227362800-227379800	Weak transcription	NHLF	lung
39	chr1:227363000-227379600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:227363800-227380600	Weak transcription	Esophagus	oesophagus
41	chr1:227364000-227379800	Weak transcription	HSMMtube	muscle
42	chr1:227364000-227385800	Weak transcription	Fetal Stomach	stomach
43	chr1:227364200-227381000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:227365800-227399400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:227367200-227375400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:227369000-227379600	Weak transcription	HMEC	breast
47	chr1:227369200-227382600	Weak transcription	Fetal Brain Female	brain
48	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:227370600-227379400	Weak transcription	NHDF-Ad	bronchial
50	chr1:227370600-227380000	Weak transcription	Gastric	stomach

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