Variant report

Variant	rs7539037
Chromosome Location	chr1:227371606-227371607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227371203..227372814-chr1:227466811..227469363,2	K562	blood:

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs1015815	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1015816	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10495258	0.82[EUR][1000 genomes]
rs10495263	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10495266	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10495269	0.82[EUR][1000 genomes]
rs10495270	0.82[EUR][1000 genomes]
rs10916109	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10916114	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11799413	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11800062	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11801443	0.81[EUR][1000 genomes]
rs11801994	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11802395	0.84[EUR][1000 genomes]
rs11803590	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11803761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803959	0.81[EUR][1000 genomes]
rs11805298	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806511	0.89[EUR][1000 genomes]
rs11806820	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11806937	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808186	0.84[EUR][1000 genomes]
rs11808928	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11809998	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11810328	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11811358	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12401963	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12402456	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403195	0.82[EUR][1000 genomes]
rs12403391	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12403650	0.93[EUR][1000 genomes]
rs12403833	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs12403986	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12404494	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12404627	0.82[EUR][1000 genomes]
rs12405122	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12405363	0.90[EUR][1000 genomes]
rs12405686	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12405878	1.00[CEU][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12407061	0.82[EUR][1000 genomes]
rs12407545	0.82[EUR][1000 genomes]
rs12408437	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408913	0.93[EUR][1000 genomes]
rs12409816	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12410327	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12410337	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12410460	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12411017	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12741049	0.84[EUR][1000 genomes]
rs1320493	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1464076	0.90[EUR][1000 genomes]
rs1464077	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1513600	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1513602	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1513603	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1546557	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1606549	0.92[EUR][1000 genomes]
rs16846855	1.00[CEU][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes]
rs16846874	0.84[EUR][1000 genomes]
rs16846877	0.84[EUR][1000 genomes]
rs16846908	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16846910	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16846911	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16846972	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16846985	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16847014	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16847035	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16847098	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16847107	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs16847492	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16847634	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17605533	0.82[EUR][1000 genomes]
rs17613166	0.93[EUR][1000 genomes]
rs17851754	0.84[EUR][1000 genomes]
rs1877622	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1888831	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2090009	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2150871	0.82[EUR][1000 genomes]
rs2150873	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2183837	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34263105	0.90[EUR][1000 genomes]
rs34400564	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34953255	0.82[EUR][1000 genomes]
rs41270149	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4255349	0.88[EUR][1000 genomes]
rs4282782	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4300186	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4354510	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4434814	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4437846	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4518864	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4543764	0.83[EUR][1000 genomes]
rs4551563	0.82[EUR][1000 genomes]
rs55685166	0.84[EUR][1000 genomes]
rs55805110	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55865118	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55882852	0.91[EUR][1000 genomes]
rs55946024	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56834719	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57276421	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57513303	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57758974	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58489467	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58532064	0.84[EUR][1000 genomes]
rs59116340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59121440	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59859849	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60068245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60079575	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60235610	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60291100	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60641481	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60742095	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60866629	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60958272	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60979561	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61081394	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61522132	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659506	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6668367	0.87[EUR][1000 genomes]
rs6675383	0.89[AMR][1000 genomes]
rs6696791	0.83[EUR][1000 genomes]
rs6696794	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6701743	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73086746	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73086752	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73086775	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73088658	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089725	0.82[EUR][1000 genomes]
rs73089747	0.82[EUR][1000 genomes]
rs73089755	0.84[EUR][1000 genomes]
rs73089760	0.84[EUR][1000 genomes]
rs73089765	0.84[EUR][1000 genomes]
rs73089770	0.84[EUR][1000 genomes]
rs73090612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091738	0.84[EUR][1000 genomes]
rs73091740	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091742	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091755	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091759	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091761	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091774	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73093463	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73093495	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73094351	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73094393	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73094400	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73096317	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73096350	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73096353	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73096358	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73096374	0.91[EUR][1000 genomes]
rs73098390	0.90[EUR][1000 genomes]
rs73098398	0.90[EUR][1000 genomes]
rs73099023	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73099026	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73100804	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73100814	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73100852	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73102307	0.85[EUR][1000 genomes]
rs73102915	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73102920	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102930	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73102936	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7413768	0.84[EUR][1000 genomes]
rs74140153	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74140276	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74143321	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7515739	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7519099	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7526283	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7534286	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7535010	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7539750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7542505	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7544923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7545775	0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7551556	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:69 , 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	chr1:227317000-227374200	Weak transcription	HepG2	liver
4	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
5	chr1:227333400-227381000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:227334800-227371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:227343200-227400400	Weak transcription	A549	lung
9	chr1:227346800-227379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
13	chr1:227347200-227378000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:227347800-227385800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:227347800-227390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:227348200-227376400	Weak transcription	Fetal Lung	lung
17	chr1:227348200-227377800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:227348200-227377800	Weak transcription	HUVEC	blood vessel
19	chr1:227348200-227379800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:227348200-227398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:227348200-227398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:227348200-227401600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:227348400-227378000	Weak transcription	Liver	Liver
26	chr1:227354800-227374400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:227355000-227374800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:227355400-227379800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:227355400-227386200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:227357600-227374400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:227358600-227374000	Weak transcription	Left Ventricle	heart
32	chr1:227358800-227374200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:227359200-227379600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:227359400-227374000	Weak transcription	Pancreas	Pancrea
35	chr1:227359400-227374400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:227359400-227379800	Weak transcription	Brain Angular Gyrus	brain
37	chr1:227359400-227379800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:227359400-227379800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:227359400-227389000	Weak transcription	Right Ventricle	heart
40	chr1:227360800-227401200	Weak transcription	Hela-S3	cervix
41	chr1:227361200-227374200	Weak transcription	Psoas Muscle	Psoas
42	chr1:227362800-227377600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:227362800-227377800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:227362800-227379800	Weak transcription	NHLF	lung
45	chr1:227363000-227379600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:227363800-227380600	Weak transcription	Esophagus	oesophagus
47	chr1:227364000-227379800	Weak transcription	HSMMtube	muscle
48	chr1:227364000-227385800	Weak transcription	Fetal Stomach	stomach
49	chr1:227364200-227381000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:227365800-227399400	Weak transcription	Fetal Intestine Large	intestine

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