Variant report

Variant	rs11816860
Chromosome Location	chr10:38336758-38336759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:38336695-38336916	GM12878	blood:	n/a	n/a
2	BCLAF1	chr10:38336581-38336949	GM12878	blood:	n/a	n/a
3	EBF1	chr10:38336716-38336870	GM12878	blood:	n/a	n/a
4	ZNF384	chr10:38336480-38336761	GM12878	blood:	n/a	n/a
5	IRF4	chr10:38336593-38336943	GM12878	blood:	n/a	n/a
6	RUNX3	chr10:38336580-38336954	GM12878	blood:	n/a	n/a
7	BATF	chr10:38336537-38336969	GM12878	blood:	n/a	n/a
8	IRF4	chr10:38336519-38337036	GM12878	blood:	n/a	n/a
9	JUND	chr10:38336546-38337001	GM12878	blood:	n/a	n/a
10	NFIC	chr10:38336571-38337038	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:38336734-38336913	GM12878	blood:	n/a	n/a
12	BATF	chr10:38336581-38336988	GM12878	blood:	n/a	n/a
13	SRF	chr10:38336713-38336833	GM12878	blood:	n/a	n/a
14	RUNX3	chr10:38336594-38336978	GM12878	blood:	n/a	n/a
15	ATF2	chr10:38336583-38337023	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38328756..38330402-chr10:38335059..38337082,2	K562	blood:

Variant related genes	Relation type
RNU6-795P	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10827834	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10827837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10827838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011385	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011391	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11011393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011403	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11011428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011429	1.00[EUR][1000 genomes]
rs11011430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011438	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11812927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11814622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11817782	1.00[AFR][1000 genomes]
rs11818933	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12241614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245586	1.00[EUR][1000 genomes]
rs12248857	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12250395	1.00[EUR][1000 genomes]
rs12252754	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256794	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258024	1.00[EUR][1000 genomes]
rs12258128	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12260189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12260310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262814	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12269398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12770231	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12773340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12777107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12779056	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2023432	1.00[EUR][1000 genomes]
rs34445730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34918037	1.00[EUR][1000 genomes]
rs35006520	1.00[EUR][1000 genomes]
rs35246660	1.00[EUR][1000 genomes]
rs57753536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60538050	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491212	1.00[EUR][1000 genomes]
rs71491214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491227	1.00[EUR][1000 genomes]
rs71491228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9651365	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised 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	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS 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 target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription 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	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers 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	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38300600-38339400	Weak transcription	Psoas Muscle	Psoas
2	chr10:38300800-38339200	Weak transcription	HSMMtube	muscle
3	chr10:38301800-38344400	Weak transcription	Hela-S3	cervix
4	chr10:38307600-38346600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:38307800-38343600	Weak transcription	Small Intestine	intestine
6	chr10:38307800-38344000	Weak transcription	Stomach Mucosa	stomach
7	chr10:38308000-38342200	Weak transcription	Brain Angular Gyrus	brain
8	chr10:38309000-38339200	Weak transcription	HUVEC	blood vessel
9	chr10:38309000-38342200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:38309800-38344200	Weak transcription	NH-A	brain
11	chr10:38314600-38342800	Weak transcription	Brain Substantia Nigra	brain
12	chr10:38315000-38342800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:38316000-38339800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:38316000-38342600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:38316600-38343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:38316800-38339200	Weak transcription	HSMM	muscle
17	chr10:38318800-38339200	Weak transcription	Left Ventricle	heart
18	chr10:38322000-38339400	Weak transcription	Spleen	Spleen
19	chr10:38322000-38342000	Weak transcription	Gastric	stomach
20	chr10:38322000-38342600	Weak transcription	Right Ventricle	heart
21	chr10:38322400-38342800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:38323800-38342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:38323800-38343000	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:38324000-38342000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:38324600-38342000	Weak transcription	Fetal Brain Male	brain
26	chr10:38324600-38343800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:38325200-38339600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:38325200-38342000	Weak transcription	HMEC	breast
29	chr10:38325200-38344000	Weak transcription	Osteobl	bone
30	chr10:38325400-38342200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:38325600-38342000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:38325800-38343200	Weak transcription	Brain Anterior Caudate	brain
33	chr10:38326000-38342800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:38326400-38342000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:38326600-38339000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:38326600-38349200	Weak transcription	HepG2	liver
37	chr10:38327800-38339000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:38327800-38344000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:38328400-38336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr10:38331400-38337800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr10:38331600-38342600	Weak transcription	Colon Smooth Muscle	Colon
42	chr10:38332000-38339400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:38332600-38337000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr10:38332600-38337400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:38333000-38342000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:38333200-38337600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:38333200-38339000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:38333200-38341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:38333400-38337200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr10:38333800-38337200	Strong transcription	Placenta	Placenta

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