Variant report

Variant	rs1614205
Chromosome Location	chr15:42248831-42248832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42248315..42251677-chr15:42258247..42261480,4	MCF-7	breast:
2	chr15:42236796..42238369-chr15:42246623..42249098,2	K562	blood:
3	chr15:42248239..42251142-chr15:42253260..42256152,2	K562	blood:
4	chr15:42246088..42249209-chr15:42256409..42259537,4	K562	blood:
5	chr15:42248313..42250478-chr15:42263449..42266063,2	MCF-7	breast:
6	chr15:42248331..42250397-chr15:42251707..42253370,2	K562	blood:

Variant related genes	Relation type
ENSG00000246740	Chromatin interaction
ENSG00000103966	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1025227	1.00[EUR][1000 genomes]
rs1030417	1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[EUR][1000 genomes]
rs1197696	1.00[EUR][1000 genomes]
rs1197698	1.00[EUR][1000 genomes]
rs1201692	1.00[EUR][1000 genomes]
rs1451047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1530836	1.00[EUR][1000 genomes]
rs1559882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1621597	1.00[EUR][1000 genomes]
rs1648808	1.00[EUR][1000 genomes]
rs1648812	1.00[EUR][1000 genomes]
rs1648819	1.00[EUR][1000 genomes]
rs1648820	1.00[EUR][1000 genomes]
rs1668566	1.00[EUR][1000 genomes]
rs1668590	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1668591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1704408	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1704409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2665209	1.00[EUR][1000 genomes]
rs2724932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57032192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410628	1.00[EUR][1000 genomes]
rs890497	1.00[EUR][1000 genomes]
rs890499	1.00[EUR][1000 genomes]
rs890500	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
5	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
6	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42222200-42249800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:42227600-42249200	Weak transcription	Small Intestine	intestine
3	chr15:42230000-42249600	Weak transcription	K562	blood
4	chr15:42230400-42262200	Weak transcription	Thymus	Thymus
5	chr15:42230800-42249400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:42231200-42249800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:42231600-42250000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:42238200-42250200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:42240400-42251800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:42240400-42252600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:42241000-42249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:42241200-42259200	Weak transcription	Brain Anterior Caudate	brain
13	chr15:42242000-42250800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:42242400-42249000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:42242600-42251200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:42242800-42249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:42243000-42252000	Weak transcription	A549	lung
18	chr15:42243400-42249200	Weak transcription	Stomach Mucosa	stomach
19	chr15:42243800-42250000	Weak transcription	Primary B cells from cord blood	blood
20	chr15:42244200-42253200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:42244200-42259400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:42244400-42249000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:42244400-42260600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:42244600-42250000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:42244800-42250400	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:42245800-42249400	Weak transcription	NH-A	brain
27	chr15:42245800-42250200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:42245800-42253000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:42246000-42249200	Weak transcription	Colonic Mucosa	Colon
30	chr15:42246000-42249400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:42246000-42249600	Weak transcription	Primary T cells from cord blood	blood
32	chr15:42246000-42253200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:42246000-42253200	Weak transcription	HMEC	breast
34	chr15:42246000-42253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:42246200-42249800	Weak transcription	Osteobl	bone
36	chr15:42246200-42250000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:42246200-42250400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:42246200-42253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:42246200-42253400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:42246200-42254600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:42246200-42261800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:42246200-42261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:42246200-42262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:42246200-42262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:42246400-42249200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:42246400-42249400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr15:42246400-42249600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:42246400-42249600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:42246400-42249800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr15:42246400-42258400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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