Variant report

Variant	rs57499412
Chromosome Location	chr15:31227947-31227948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31223541..31225627-chr15:31225836..31228644,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11855516	1.00[AMR][1000 genomes]
rs11856775	1.00[AMR][1000 genomes]
rs11858651	1.00[AMR][1000 genomes]
rs11858680	1.00[AMR][1000 genomes]
rs28583796	1.00[AMR][1000 genomes]
rs28607120	1.00[AMR][1000 genomes]
rs28623378	1.00[AMR][1000 genomes]
rs28770770	1.00[AMR][1000 genomes]
rs28809782	1.00[AMR][1000 genomes]
rs55749458	1.00[AMR][1000 genomes]
rs55896057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56310450	1.00[AMR][1000 genomes]
rs56408018	1.00[AMR][1000 genomes]
rs57661317	1.00[AMR][1000 genomes]
rs58522856	1.00[AMR][1000 genomes]
rs59803232	1.00[AMR][1000 genomes]
rs60002525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60084176	1.00[AMR][1000 genomes]
rs60718659	1.00[AMR][1000 genomes]
rs61009284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61080715	1.00[AMR][1000 genomes]
rs61439612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61528441	1.00[AMR][1000 genomes]
rs61599827	1.00[AMR][1000 genomes]
rs61701824	1.00[AMR][1000 genomes]
rs7163814	1.00[AMR][1000 genomes]
rs7165699	1.00[AMR][1000 genomes]
rs7169444	1.00[AMR][1000 genomes]
rs7169542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7170006	1.00[AMR][1000 genomes]
rs7182086	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73366503	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73366542	0.84[AFR][1000 genomes]
rs73366549	1.00[AMR][1000 genomes]
rs73366561	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73366569	1.00[AMR][1000 genomes]
rs73366598	1.00[AMR][1000 genomes]
rs73368419	1.00[AMR][1000 genomes]
rs73368457	1.00[AMR][1000 genomes]
rs73377277	1.00[AMR][1000 genomes]
rs73377279	1.00[AMR][1000 genomes]
rs73377286	1.00[AMR][1000 genomes]
rs73377300	1.00[AMR][1000 genomes]
rs73379134	1.00[AMR][1000 genomes]
rs73379138	1.00[AMR][1000 genomes]
rs73379150	1.00[AMR][1000 genomes]
rs73379190	1.00[AMR][1000 genomes]
rs73381335	1.00[AMR][1000 genomes]
rs73381337	1.00[AMR][1000 genomes]
rs73381339	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73381363	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009242	1.00[AMR][1000 genomes]
rs74012716	1.00[AMR][1000 genomes]
rs8028459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033175	1.00[AMR][1000 genomes]
rs8042198	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9783686	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427955	chr15:30467980-31273174	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
5	nsv533434	chr15:30938215-31244225	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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	87 gene(s)	inside rSNPs	diseases
9	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
11	nsv1039037	chr15:31140415-31277268	Strong transcription ZNF genes & repeats Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv542309	chr15:31140415-31277268	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv521842	chr15:31140700-31272670	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr15:31200400-31242200	Strong transcription	Primary T cells from cord blood	blood
2	chr15:31200600-31254800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:31201200-31241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:31214800-31230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:31215200-31238600	Weak transcription	Fetal Heart	heart
6	chr15:31215200-31241000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:31215800-31236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:31216000-31241600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:31216600-31245800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:31217800-31228600	Weak transcription	Fetal Kidney	kidney
11	chr15:31218200-31228400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:31220000-31228800	Weak transcription	HSMM	muscle
13	chr15:31220000-31233800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:31221000-31246800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:31221600-31230600	Weak transcription	K562	blood
16	chr15:31222600-31241000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:31222800-31229000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:31222800-31232600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:31222800-31233000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:31223000-31228600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:31223000-31228800	Weak transcription	Colonic Mucosa	Colon
22	chr15:31223000-31229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:31223000-31229200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:31223000-31229400	Weak transcription	HSMMtube	muscle
25	chr15:31223000-31232400	Weak transcription	Stomach Mucosa	stomach
26	chr15:31223200-31228400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr15:31223200-31228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:31223200-31228400	Weak transcription	Spleen	Spleen
29	chr15:31223200-31228400	Weak transcription	NHDF-Ad	bronchial
30	chr15:31223200-31228800	Weak transcription	Hela-S3	cervix
31	chr15:31223200-31229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:31223200-31230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:31223200-31230600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:31223200-31230600	Weak transcription	Aorta	Aorta
35	chr15:31223200-31230600	Weak transcription	Pancreas	Pancrea
36	chr15:31223200-31230600	Weak transcription	Psoas Muscle	Psoas
37	chr15:31223200-31230600	Weak transcription	Right Ventricle	heart
38	chr15:31223200-31230600	Weak transcription	Small Intestine	intestine
39	chr15:31223200-31230800	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:31223200-31232400	Weak transcription	Esophagus	oesophagus
41	chr15:31223200-31237600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:31223400-31228200	Weak transcription	Left Ventricle	heart
43	chr15:31223400-31228400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:31223400-31228400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:31223400-31228400	Weak transcription	Thymus	Thymus
46	chr15:31223400-31228600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:31223400-31228800	Weak transcription	Gastric	stomach
48	chr15:31223400-31230600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:31223400-31230600	Weak transcription	HUVEC	blood vessel
50	chr15:31223600-31228200	Weak transcription	Fetal Muscle Trunk	muscle

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