Variant report

Variant	rs10048057
Chromosome Location	chr15:43384742-43384743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43375936..43379231-chr15:43382227..43385005,3	K562	blood:
2	chr15:43383221..43385892-chr15:43389653..43392510,3	K562	blood:
3	chr15:43383221..43388610-chr15:43389653..43393489,4	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes]
rs10438267	1.00[EUR][1000 genomes]
rs1078243	1.00[EUR][1000 genomes]
rs11070384	0.87[AFR][1000 genomes]
rs11504654	1.00[EUR][1000 genomes]
rs11504655	1.00[EUR][1000 genomes]
rs12324094	1.00[MKK][hapmap];1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs13380212	0.87[AFR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957292	0.89[AFR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs16957502	1.00[EUR][1000 genomes]
rs16957507	1.00[EUR][1000 genomes]
rs1863601	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[EUR][1000 genomes]
rs28444219	1.00[EUR][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[EUR][1000 genomes]
rs34222269	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes]
rs59401274	1.00[EUR][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes]
rs60481556	1.00[EUR][1000 genomes]
rs61268760	1.00[EUR][1000 genomes]
rs61343376	1.00[EUR][1000 genomes]
rs61711558	1.00[EUR][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes]
rs7175062	0.87[AFR][1000 genomes]
rs7176183	1.00[EUR][1000 genomes]
rs7182685	1.00[EUR][1000 genomes]
rs7183024	1.00[EUR][1000 genomes]
rs8030850	1.00[EUR][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes]
rs8040769	1.00[EUR][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv904137	chr15:43268970-43392075	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised 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	28 gene(s)	inside rSNPs	diseases
15	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv904140	chr15:43276345-43385147	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv904141	chr15:43276345-43392075	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
21	nsv904145	chr15:43286746-43392075	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43301800-43385800	Weak transcription	Gastric	stomach
3	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
4	chr15:43345400-43393400	Weak transcription	Psoas Muscle	Psoas
5	chr15:43346800-43395400	Weak transcription	Small Intestine	intestine
6	chr15:43348200-43389600	Weak transcription	Spleen	Spleen
7	chr15:43348400-43397400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:43353000-43397400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:43362800-43385600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:43363400-43385600	Weak transcription	Ovary	ovary
11	chr15:43365000-43386800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:43365400-43385800	Weak transcription	Aorta	Aorta
13	chr15:43367400-43394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:43370200-43387000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:43373000-43385600	Weak transcription	Lung	lung
16	chr15:43373200-43397200	Weak transcription	Fetal Brain Male	brain
17	chr15:43373400-43385800	Weak transcription	Right Ventricle	heart
18	chr15:43373400-43392400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:43373600-43384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:43373600-43396600	Weak transcription	Pancreas	Pancrea
21	chr15:43374800-43392400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:43375400-43396600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:43375600-43395400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:43376600-43385200	Weak transcription	HSMMtube	muscle
25	chr15:43376600-43386800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:43376600-43392400	Weak transcription	Fetal Brain Female	brain
27	chr15:43376600-43397200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:43376800-43385600	Weak transcription	Left Ventricle	heart
29	chr15:43376800-43396400	Weak transcription	Fetal Kidney	kidney
30	chr15:43376800-43396600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:43377000-43385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:43377000-43385600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:43377200-43391800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:43377400-43385600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:43377600-43385200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:43377600-43385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:43377600-43392600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:43377600-43397200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:43377600-43397200	Weak transcription	Colonic Mucosa	Colon
40	chr15:43377800-43387600	Weak transcription	HepG2	liver
41	chr15:43378000-43389600	Weak transcription	HUVEC	blood vessel
42	chr15:43378000-43391800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:43378000-43393000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:43378200-43385600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:43378200-43389200	Weak transcription	Thymus	Thymus
46	chr15:43378400-43385000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:43378400-43385200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:43378400-43385200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr15:43378400-43387000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr15:43378400-43389200	Weak transcription	Primary T cells fromperipheralblood	blood

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