Variant report

Variant	rs60726516
Chromosome Location	chr11:3805860-3805861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3805522..3809084-chr11:3816316..3820191,6	K562	blood:
2	chr11:3805860..3809513-chr11:3815479..3820191,6	K562	blood:
3	chr11:3805418..3808552-chr11:3809921..3811624,3	K562	blood:

Variant related genes	Relation type
ENSG00000110713	Chromatin interaction
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10500588	0.81[AFR][1000 genomes]
rs12269960	1.00[ASN][1000 genomes]
rs12271649	1.00[ASN][1000 genomes]
rs12277623	1.00[ASN][1000 genomes]
rs12277783	1.00[ASN][1000 genomes]
rs12282367	1.00[ASN][1000 genomes]
rs12284297	1.00[ASN][1000 genomes]
rs12285688	1.00[ASN][1000 genomes]
rs12293671	1.00[ASN][1000 genomes]
rs12295219	1.00[ASN][1000 genomes]
rs1567923	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16925377	1.00[ASN][1000 genomes]
rs16929762	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929781	0.86[AFR][1000 genomes]
rs16929785	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231546	1.00[ASN][1000 genomes]
rs2231547	1.00[ASN][1000 genomes]
rs35404087	1.00[ASN][1000 genomes]
rs35803045	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910530	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910549	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910565	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910639	1.00[ASN][1000 genomes]
rs4910654	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910665	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910695	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910710	0.96[EUR][1000 genomes]
rs4910711	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910712	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910797	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910798	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910799	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910800	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910805	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910806	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910808	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910810	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910811	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910814	1.00[ASN][1000 genomes]
rs55798582	1.00[ASN][1000 genomes]
rs56702085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59617039	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61508984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61751339	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877577	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877578	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877579	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877580	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877581	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877582	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877583	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877584	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877592	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877594	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877595	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877596	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877597	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61877598	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877601	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877602	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61877604	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877626	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877627	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877628	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877629	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877630	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877631	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61877632	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61878509	1.00[ASN][1000 genomes]
rs61878531	1.00[ASN][1000 genomes]
rs61878539	1.00[ASN][1000 genomes]
rs61878540	1.00[ASN][1000 genomes]
rs61878542	1.00[ASN][1000 genomes]
rs61878543	1.00[ASN][1000 genomes]
rs61878551	1.00[ASN][1000 genomes]
rs61878553	1.00[ASN][1000 genomes]
rs61878554	1.00[ASN][1000 genomes]
rs61878555	1.00[ASN][1000 genomes]
rs61878556	1.00[ASN][1000 genomes]
rs61879789	1.00[ASN][1000 genomes]
rs61879790	1.00[ASN][1000 genomes]
rs61879791	1.00[ASN][1000 genomes]
rs61879792	1.00[ASN][1000 genomes]
rs61879795	1.00[ASN][1000 genomes]
rs61879797	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879798	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879799	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879800	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879801	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879830	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879831	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879832	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879982	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879984	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896888	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896889	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896890	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896891	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896892	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896893	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896894	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61896897	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896898	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61896899	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61896900	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61896901	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61896917	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896918	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896919	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896920	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896921	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896922	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896923	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896925	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998205	1.00[ASN][1000 genomes]
rs7105207	1.00[ASN][1000 genomes]
rs7111156	1.00[ASN][1000 genomes]
rs7118870	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122294	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844330	1.00[ASN][1000 genomes]
rs72844332	1.00[ASN][1000 genomes]
rs72844335	1.00[ASN][1000 genomes]
rs72844387	1.00[ASN][1000 genomes]
rs72844389	1.00[ASN][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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3732400-3808000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:3780200-3808000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:3780600-3817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:3786800-3816000	Weak transcription	Stomach Mucosa	stomach
6	chr11:3791200-3813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:3793800-3816800	Weak transcription	Fetal Heart	heart
8	chr11:3793800-3817000	Weak transcription	Fetal Brain Male	brain
9	chr11:3800000-3808400	Weak transcription	Psoas Muscle	Psoas
10	chr11:3800400-3806400	Weak transcription	Brain Substantia Nigra	brain
11	chr11:3800400-3806600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:3800400-3806600	Weak transcription	Gastric	stomach
13	chr11:3800400-3806600	Weak transcription	Spleen	Spleen
14	chr11:3800400-3807200	Weak transcription	Brain Angular Gyrus	brain
15	chr11:3800400-3807200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:3800400-3807400	Weak transcription	NH-A	brain
17	chr11:3800400-3808400	Weak transcription	Pancreas	Pancrea
18	chr11:3800400-3812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:3800400-3813200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:3800400-3813400	Weak transcription	Fetal Kidney	kidney
21	chr11:3800400-3816400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:3800400-3816400	Weak transcription	Small Intestine	intestine
23	chr11:3800400-3817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:3800400-3817600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:3800600-3807800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:3800600-3807800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:3800600-3813400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:3800600-3816400	Weak transcription	Colonic Mucosa	Colon
29	chr11:3800600-3817000	Weak transcription	HSMMtube	muscle
30	chr11:3800600-3817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:3800800-3808400	Weak transcription	Right Ventricle	heart
32	chr11:3801000-3807800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:3801200-3808000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:3801400-3812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:3801600-3813800	Weak transcription	Fetal Brain Female	brain
36	chr11:3801800-3810400	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:3802000-3807800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:3802200-3813200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:3802400-3806400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:3802400-3806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:3802400-3807400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:3802400-3808200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:3802400-3808400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:3802400-3808400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:3802400-3808400	Weak transcription	Placenta	Placenta
46	chr11:3802400-3808400	Weak transcription	Fetal Stomach	stomach
47	chr11:3802400-3808400	Weak transcription	Lung	lung
48	chr11:3802400-3811200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:3802400-3811200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:3802400-3811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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