Variant report

Variant	rs16973018
Chromosome Location	chr15:42598589-42598590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42565221..42567445-chr15:42597344..42599463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103978	Chromatin interaction
ENSG00000214013	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16972927	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972930	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972969	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973177	0.83[EUR][1000 genomes]
rs16973182	0.83[EUR][1000 genomes]
rs16973184	0.83[EUR][1000 genomes]
rs16973188	0.83[EUR][1000 genomes]
rs16973200	1.00[EUR][1000 genomes]
rs16973206	0.83[EUR][1000 genomes]
rs17593	0.83[EUR][1000 genomes]
rs28364383	0.83[EUR][1000 genomes]
rs28364387	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364399	1.00[EUR][1000 genomes]
rs28364423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307925	0.83[EUR][1000 genomes]
rs4486855	0.83[EUR][1000 genomes]
rs4516202	0.83[EUR][1000 genomes]
rs7167683	0.83[EUR][1000 genomes]
rs7174880	0.83[EUR][1000 genomes]
rs728507	0.83[EUR][1000 genomes]
rs728508	0.83[EUR][1000 genomes]
rs728509	0.83[EUR][1000 genomes]
rs728510	1.00[EUR][1000 genomes]
rs8024452	0.83[EUR][1000 genomes]
rs8026890	0.83[EUR][1000 genomes]
rs8027800	0.83[EUR][1000 genomes]
rs8033108	1.00[EUR][1000 genomes]
rs8033734	0.83[EUR][1000 genomes]
rs8033882	0.83[EUR][1000 genomes]
rs8033960	0.83[EUR][1000 genomes]
rs8035332	0.83[EUR][1000 genomes]
rs8035521	0.83[EUR][1000 genomes]
rs8038771	0.83[EUR][1000 genomes]
rs8038967	0.83[EUR][1000 genomes]
rs8039470	0.83[EUR][1000 genomes]
rs8040129	0.83[EUR][1000 genomes]
rs8040726	1.00[EUR][1000 genomes]
rs934877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
5	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42567200-42623600	Weak transcription	Fetal Brain Male	brain
2	chr15:42568400-42604600	Weak transcription	NH-A	brain
3	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
4	chr15:42568600-42602600	Weak transcription	Fetal Heart	heart
5	chr15:42568600-42630800	Weak transcription	Dnd41	blood
6	chr15:42569400-42602800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:42573400-42635800	Weak transcription	Gastric	stomach
8	chr15:42573600-42602600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:42573800-42605600	Weak transcription	Pancreas	Pancrea
10	chr15:42576200-42602800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:42576200-42605800	Weak transcription	Esophagus	oesophagus
12	chr15:42576400-42602000	Weak transcription	Colonic Mucosa	Colon
13	chr15:42576400-42620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:42577800-42616200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:42581600-42601600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:42581800-42602600	Weak transcription	HMEC	breast
17	chr15:42582000-42601000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:42582000-42613400	Weak transcription	HUVEC	blood vessel
19	chr15:42583400-42598800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:42584200-42599200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:42584400-42599000	Weak transcription	Aorta	Aorta
22	chr15:42585400-42601200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:42585400-42601400	Weak transcription	Right Ventricle	heart
24	chr15:42585400-42623600	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:42585600-42598800	Weak transcription	Ovary	ovary
26	chr15:42585600-42599000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:42585600-42599600	Weak transcription	Psoas Muscle	Psoas
28	chr15:42585600-42602000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:42585600-42602600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:42585600-42604400	Weak transcription	Fetal Kidney	kidney
31	chr15:42585600-42607600	Weak transcription	NHLF	lung
32	chr15:42585800-42602600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:42586200-42613800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:42586600-42599200	Weak transcription	Thymus	Thymus
35	chr15:42586600-42600200	Weak transcription	Spleen	Spleen
36	chr15:42587400-42599000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:42588400-42599000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr15:42590400-42598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:42590400-42598600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:42590400-42598800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr15:42590400-42598800	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:42590400-42599600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:42590400-42600000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:42590400-42600200	Weak transcription	NHDF-Ad	bronchial
45	chr15:42590400-42601200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:42590400-42602600	Weak transcription	Osteobl	bone
47	chr15:42590600-42598600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr15:42590600-42598800	Weak transcription	Brain Substantia Nigra	brain
49	chr15:42590600-42599000	Weak transcription	Left Ventricle	heart
50	chr15:42590600-42599600	Weak transcription	Placenta	Placenta

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