Variant report

Variant	rs686038
Chromosome Location	chr15:41190989-41190990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41190554..41193309-chr15:41194850..41196390,2	MCF-7	breast:
2	chr15:41189733..41192920-chr15:41195198..41198883,3	MCF-7	breast:
3	chr15:41188067..41190657-chr15:41190736..41192899,3	K562	blood:
4	chr15:41185728..41189415-chr15:41190458..41194976,6	MCF-7	breast:
5	chr15:41164000..41165836-chr15:41190857..41193283,2	K562	blood:
6	chr15:41190132..41193059-chr15:41221579..41223511,2	K562	blood:

Variant related genes	Relation type
ENSG00000128917	Chromatin interaction
ENSG00000104142	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11855507	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11856227	0.82[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap]
rs12148523	0.81[ASN][1000 genomes]
rs16971177	0.84[GIH][hapmap]
rs16971186	0.84[GIH][hapmap]
rs2008102	0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2279578	0.82[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap]
rs2925352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3100812	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs4924510	0.84[ASN][1000 genomes]
rs604751	0.85[AFR][1000 genomes]
rs611694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677273	1.00[GIH][hapmap]
rs694213	1.00[GIH][hapmap]
rs9806683	0.94[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv819345	chr15:41188313-41191222	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	6 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	chr15:41187600-41191200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41187600-41191200	Weak transcription	Aorta	Aorta
3	chr15:41187600-41194400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:41187800-41195400	Weak transcription	Fetal Kidney	kidney
5	chr15:41188000-41191000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:41188000-41191000	Weak transcription	Thymus	Thymus
7	chr15:41188000-41191000	Weak transcription	A549	lung
8	chr15:41188000-41191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:41188000-41191800	Weak transcription	Psoas Muscle	Psoas
10	chr15:41188000-41192800	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr15:41188000-41196000	Weak transcription	Right Atrium	heart
12	chr15:41188200-41191000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:41188200-41191000	Weak transcription	Colonic Mucosa	Colon
14	chr15:41188200-41191000	Weak transcription	Esophagus	oesophagus
15	chr15:41188200-41191000	Weak transcription	Gastric	stomach
16	chr15:41188200-41191000	Weak transcription	HSMMtube	muscle
17	chr15:41188200-41191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:41188200-41191200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:41188200-41191400	Weak transcription	Brain Substantia Nigra	brain
20	chr15:41188200-41192400	Strong transcription	Placenta	Placenta
21	chr15:41188200-41193200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:41188200-41193800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:41188200-41194600	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:41188200-41195800	Weak transcription	Stomach Mucosa	stomach
25	chr15:41188200-41196000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:41188200-41196200	Weak transcription	Fetal Brain Male	brain
27	chr15:41188200-41197200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:41188200-41197200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:41188200-41197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:41188200-41197800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:41188200-41198000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:41188200-41198800	Weak transcription	Small Intestine	intestine
33	chr15:41188400-41191000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:41188400-41191800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:41188400-41192600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:41188400-41192600	Weak transcription	HMEC	breast
37	chr15:41188400-41192600	Weak transcription	K562	blood
38	chr15:41188400-41192800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:41188400-41192800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:41188400-41192800	Weak transcription	Fetal Heart	heart
41	chr15:41188400-41193000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:41188400-41193000	Strong transcription	Fetal Intestine Small	intestine
43	chr15:41188400-41193000	Strong transcription	Fetal Stomach	stomach
44	chr15:41188400-41193200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr15:41188400-41193600	Strong transcription	Adipose Nuclei	Adipose
46	chr15:41188400-41193600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:41188400-41193800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:41188400-41194000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:41188400-41194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:41188400-41194800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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