Variant report

Variant	rs6494989
Chromosome Location	chr15:72389922-72389923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10851849	1.00[EUR][1000 genomes]
rs11072341	0.88[AFR][1000 genomes]
rs11072348	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11072352	1.00[EUR][1000 genomes]
rs12593333	1.00[EUR][1000 genomes]
rs12903688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1457030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545825	0.89[AFR][1000 genomes]
rs1598714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1800431	1.00[EUR][1000 genomes]
rs2254976	1.00[EUR][1000 genomes]
rs2415124	1.00[AMR][1000 genomes]
rs2415131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723338	1.00[EUR][1000 genomes]
rs2856926	1.00[EUR][1000 genomes]
rs2912208	1.00[EUR][1000 genomes]
rs2912209	1.00[EUR][1000 genomes]
rs2912211	1.00[EUR][1000 genomes]
rs2912212	1.00[EUR][1000 genomes]
rs2912213	1.00[EUR][1000 genomes]
rs2912218	1.00[EUR][1000 genomes]
rs2912232	1.00[EUR][1000 genomes]
rs2925647	1.00[EUR][1000 genomes]
rs2925651	1.00[EUR][1000 genomes]
rs2929516	1.00[EUR][1000 genomes]
rs2929520	1.00[EUR][1000 genomes]
rs2929521	0.87[AFR][1000 genomes]
rs2929522	0.87[AFR][1000 genomes]
rs2929523	1.00[EUR][1000 genomes]
rs2929530	0.82[AFR][1000 genomes]
rs2929531	0.81[AFR][1000 genomes]
rs2957367	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957369	0.87[AFR][1000 genomes]
rs2957370	1.00[EUR][1000 genomes]
rs2957371	1.00[EUR][1000 genomes]
rs2957722	1.00[EUR][1000 genomes]
rs2957733	0.87[AFR][1000 genomes]
rs2957747	0.87[AFR][1000 genomes]
rs2957749	0.88[AFR][1000 genomes]
rs2957751	0.87[AFR][1000 genomes]
rs2957752	0.87[AFR][1000 genomes]
rs2959901	1.00[EUR][1000 genomes]
rs2959902	1.00[EUR][1000 genomes]
rs2959905	1.00[EUR][1000 genomes]
rs2959907	1.00[EUR][1000 genomes]
rs2959920	1.00[EUR][1000 genomes]
rs2959928	1.00[EUR][1000 genomes]
rs2959934	1.00[EUR][1000 genomes]
rs2959936	1.00[EUR][1000 genomes]
rs2959937	1.00[EUR][1000 genomes]
rs2959942	1.00[EUR][1000 genomes]
rs35293819	1.00[EUR][1000 genomes]
rs35514603	1.00[EUR][1000 genomes]
rs4238451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4461029	1.00[EUR][1000 genomes]
rs4511484	0.83[AFR][1000 genomes]
rs4776585	0.81[AFR][1000 genomes]
rs4776587	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4776588	1.00[EUR][1000 genomes]
rs4777487	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777493	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777502	1.00[EUR][1000 genomes]
rs56168468	1.00[EUR][1000 genomes]
rs6494987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6494988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494991	1.00[AMR][1000 genomes]
rs6494995	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170173	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171097	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173348	1.00[EUR][1000 genomes]
rs7173532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177512	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7179691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180934	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032957	0.86[AFR][1000 genomes]
rs8034892	1.00[EUR][1000 genomes]
rs8037749	1.00[EUR][1000 genomes]
rs930871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
6	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
8	esv11550	chr15:72353301-72395288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv904337	chr15:72361942-72390515	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv869747	chr15:72372245-72403103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
12	nsv510665	chr15:72374862-72407548	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3310927	chr15:72383998-72390096	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv511557	chr15:72386175-72408069	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv569929	chr15:72386349-72403001	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72361600-72390600	Weak transcription	Aorta	Aorta
3	chr15:72361600-72391400	Weak transcription	Ovary	ovary
4	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
8	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:72378800-72391400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
12	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:72379800-72391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
21	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:72380400-72390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:72380400-72390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
26	chr15:72381000-72391400	Weak transcription	Primary T cells from cord blood	blood
27	chr15:72384800-72392400	Weak transcription	Stomach Mucosa	stomach
28	chr15:72388200-72395600	Weak transcription	Osteobl	bone
29	chr15:72388400-72396200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr15:72388800-72391400	Weak transcription	Fetal Intestine Small	intestine
31	chr15:72388800-72391400	Weak transcription	Fetal Stomach	stomach
32	chr15:72389200-72395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:72389400-72395800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:72389400-72396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:72389600-72391800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:72389600-72395600	Weak transcription	Fetal Lung	lung
37	chr15:72389600-72395600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:72389600-72403600	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:72389800-72396200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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