Variant report

Variant	rs8039556
Chromosome Location	chr15:41730126-41730127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41729821..41731972-chr15:41736069..41739008,2	MCF-7	breast:
2	chr15:41693057..41696366-chr15:41728446..41732197,6	K562	blood:
3	chr15:41729274..41732149-chr15:41738929..41741048,2	K562	blood:
4	chr15:41693057..41694608-chr15:41729845..41731591,2	K562	blood:

Variant related genes	Relation type
ENSG00000137806	Chromatin interaction
ENSG00000200407	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs34979001	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs36124939	0.89[YRI][hapmap]
rs55643943	0.82[AFR][1000 genomes]
rs55882121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56145951	0.89[AFR][1000 genomes]
rs56938279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58964563	0.81[AFR][1000 genomes]
rs59836577	0.81[AFR][1000 genomes]
rs60753819	0.85[AFR][1000 genomes]
rs7162242	0.80[AFR][1000 genomes]
rs7166617	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7167144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7168910	0.98[AFR][1000 genomes]
rs7171744	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs74012276	0.82[AFR][1000 genomes]
rs74012285	0.87[AFR][1000 genomes]
rs74012293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012294	0.96[AFR][1000 genomes]
rs74012295	0.80[AFR][1000 genomes]
rs74012297	0.80[AFR][1000 genomes]
rs74012298	1.00[AFR][1000 genomes]
rs8027761	0.85[AFR][1000 genomes]
rs8028208	0.82[AFR][1000 genomes]
rs8031243	0.89[YRI][hapmap]
rs8037253	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038185	0.89[YRI][hapmap]
rs8040920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
6	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv569232	chr15:41694377-41730246	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41710400-41745200	Weak transcription	Esophagus	oesophagus
2	chr15:41710400-41750000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41710600-41731600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:41710600-41731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:41710600-41731800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:41710600-41733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:41710600-41745200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:41710800-41730200	Weak transcription	Fetal Intestine Large	intestine
9	chr15:41710800-41730600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:41710800-41731600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:41710800-41731800	Weak transcription	Left Ventricle	heart
12	chr15:41710800-41733400	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:41710800-41733400	Weak transcription	HSMMtube	muscle
14	chr15:41711000-41730200	Weak transcription	Adipose Nuclei	Adipose
15	chr15:41711000-41730600	Weak transcription	Osteobl	bone
16	chr15:41711400-41730600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:41711400-41733400	Weak transcription	Brain Angular Gyrus	brain
18	chr15:41711400-41733400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:41711600-41731000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:41711600-41746800	Weak transcription	A549	lung
21	chr15:41711600-41759000	Weak transcription	Fetal Heart	heart
22	chr15:41711800-41735400	Weak transcription	Fetal Kidney	kidney
23	chr15:41712800-41733600	Weak transcription	Fetal Lung	lung
24	chr15:41713200-41730400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:41713200-41745200	Weak transcription	Spleen	Spleen
26	chr15:41713400-41731800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:41714800-41730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:41715800-41730600	Weak transcription	Ovary	ovary
29	chr15:41716600-41733600	Weak transcription	HepG2	liver
30	chr15:41716800-41730400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:41716800-41733400	Weak transcription	Hela-S3	cervix
32	chr15:41718200-41745200	Weak transcription	Pancreas	Pancrea
33	chr15:41719000-41730200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:41719000-41730400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:41719000-41731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:41719000-41731600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:41719000-41731600	Weak transcription	HUVEC	blood vessel
38	chr15:41719000-41731800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:41719000-41733400	Weak transcription	HMEC	breast
40	chr15:41719000-41733400	Weak transcription	HSMM	muscle
41	chr15:41719000-41733400	Weak transcription	NHEK	skin
42	chr15:41719000-41733800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:41719000-41745200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr15:41719000-41749800	Weak transcription	NHLF	lung
45	chr15:41719000-41765800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:41719200-41734000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr15:41721600-41735400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:41721600-41745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:41721800-41731600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr15:41721800-41735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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