Variant report

Variant	rs2338680
Chromosome Location	chr15:31780133-31780134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31729614..31735490-chr15:31778794..31782835,6	MCF-7	breast:
2	chr15:31748477..31753108-chr15:31776889..31783172,7	MCF-7	breast:
3	chr15:31507689..31508257-chr15:31779754..31780346,2	K562	blood:
4	chr15:31730666..31732248-chr15:31779741..31781482,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259448	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11071094	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12439310	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28454521	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4779534	0.81[AMR][1000 genomes]
rs8040427	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv903844	chr15:31736091-31781988	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1046271	chr15:31741255-31795961	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv903845	chr15:31751664-31939001	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1811144	chr15:31775602-31791836	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv568824	chr15:31776343-31787108	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31775400-31780400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:31776000-31780200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:31776000-31780600	Weak transcription	Left Ventricle	heart
4	chr15:31776200-31780600	Weak transcription	Right Atrium	heart
5	chr15:31776800-31780600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:31777000-31780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:31777000-31780600	Weak transcription	Brain Substantia Nigra	brain
8	chr15:31777000-31780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:31777200-31780200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:31777200-31780200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:31777200-31780400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:31777200-31780400	Weak transcription	Lung	lung
13	chr15:31777400-31780200	Weak transcription	Primary T cells from cord blood	blood
14	chr15:31777600-31780200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:31777800-31781800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:31777800-31782400	Enhancers	Esophagus	oesophagus
17	chr15:31778000-31782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:31778000-31782400	Enhancers	Fetal Thymus	thymus
19	chr15:31778200-31780600	Weak transcription	Right Ventricle	heart
20	chr15:31778200-31780600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:31778400-31782400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:31778400-31782400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:31778600-31780800	Weak transcription	Spleen	Spleen
24	chr15:31778800-31780400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:31778800-31782400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr15:31779000-31780200	Weak transcription	HMEC	breast
27	chr15:31779000-31781200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:31779000-31781800	Enhancers	NHEK	skin
29	chr15:31779400-31780600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:31779400-31780600	Enhancers	GM12878-XiMat	blood
31	chr15:31779400-31781200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:31779400-31782400	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:31779600-31780600	Weak transcription	Brain Angular Gyrus	brain
34	chr15:31779600-31780600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:31779600-31781400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:31779600-31782400	Enhancers	Pancreas	Pancrea
37	chr15:31779600-31782400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr15:31779600-31782400	Enhancers	NHDF-Ad	bronchial
39	chr15:31779600-31782400	Enhancers	NHLF	lung
40	chr15:31779800-31780400	Enhancers	Hela-S3	cervix
41	chr15:31779800-31780600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:31779800-31781400	Enhancers	Brain Cingulate Gyrus	brain
43	chr15:31779800-31781400	Enhancers	Thymus	Thymus
44	chr15:31779800-31781600	Enhancers	Primary B cells from cord blood	blood
45	chr15:31779800-31782400	Enhancers	Gastric	stomach
46	chr15:31779800-31782600	Enhancers	Stomach Mucosa	stomach
47	chr15:31780000-31780600	Enhancers	Colonic Mucosa	Colon
48	chr15:31780000-31780600	Enhancers	Osteobl	bone
49	chr15:31780000-31781400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr15:31780000-31782400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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