Variant report

Variant	rs7329985
Chromosome Location	chr13:95257104-95257105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95253610..95255807-chr13:95256426..95259673,3	MCF-7	breast:
2	chr13:95253581..95255283-chr13:95255726..95257266,2	MCF-7	breast:
3	chr13:94692498..94694844-chr13:95254837..95257495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152749	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2226077	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2226078	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4417425	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4516070	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61965606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6492722	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6492724	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7318105	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7329965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7981150	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7984105	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7998457	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9516439	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9524564	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9524575	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7329985	GPR180	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95254600-95259200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:95254600-95276600	Weak transcription	Small Intestine	intestine
3	chr13:95254600-95284000	Weak transcription	Spleen	Spleen
4	chr13:95254800-95257600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:95254800-95258600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:95254800-95258600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:95254800-95259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:95254800-95259200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:95254800-95259200	Weak transcription	Gastric	stomach
10	chr13:95254800-95263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr13:95254800-95263800	Weak transcription	Left Ventricle	heart
12	chr13:95254800-95263800	Weak transcription	Pancreas	Pancrea
13	chr13:95254800-95263800	Weak transcription	Psoas Muscle	Psoas
14	chr13:95254800-95268200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:95254800-95272000	Weak transcription	Lung	lung
16	chr13:95254800-95275400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr13:95254800-95275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:95254800-95288800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:95255000-95257200	Enhancers	Liver	Liver
20	chr13:95255000-95258000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr13:95255000-95258000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:95255000-95258000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:95255000-95258600	Weak transcription	Placenta	Placenta
24	chr13:95255000-95259000	Weak transcription	Ovary	ovary
25	chr13:95255000-95259000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:95255000-95259000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:95255000-95259400	Weak transcription	Right Atrium	heart
28	chr13:95255000-95260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:95255000-95260400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:95255000-95262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:95255000-95262800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr13:95255000-95263200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:95255000-95263200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:95255000-95275400	Weak transcription	Aorta	Aorta
35	chr13:95255000-95275600	Weak transcription	Right Ventricle	heart
36	chr13:95255000-95276200	Weak transcription	HSMMtube	muscle
37	chr13:95255000-95281000	Weak transcription	Colonic Mucosa	Colon
38	chr13:95255200-95257400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:95255200-95257400	Weak transcription	Fetal Thymus	thymus
40	chr13:95255200-95257800	Weak transcription	Primary B cells from cord blood	blood
41	chr13:95255200-95257800	Weak transcription	HSMM	muscle
42	chr13:95255200-95258200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:95255200-95258400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:95255200-95258800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:95255200-95259200	Weak transcription	Fetal Intestine Large	intestine
46	chr13:95255200-95259400	Weak transcription	Brain Germinal Matrix	brain
47	chr13:95255200-95262000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr13:95255200-95262800	Weak transcription	Fetal Kidney	kidney
49	chr13:95255200-95272200	Weak transcription	Colon Smooth Muscle	Colon
50	chr13:95255200-95276200	Weak transcription	Fetal Brain Female	brain

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