Variant report

Variant	rs7986129
Chromosome Location	chr13:30964159-30964160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30963591..30965165-chr13:30969250..30971365,2	MCF-7	breast:
2	chr13:30944939..30947830-chr13:30963625..30965440,2	K562	blood:
3	chr13:30962704..30965120-chr13:30966548..30968829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238121	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12855287	0.98[EUR][1000 genomes]
rs12867032	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs35052580	0.91[EUR][1000 genomes]
rs35624900	0.91[EUR][1000 genomes]
rs6490458	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490459	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7987063	0.92[AFR][1000 genomes]
rs7988131	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9508721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508722	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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 target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30951400-30969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30951600-30964200	Weak transcription	Esophagus	oesophagus
3	chr13:30961600-30964200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:30962000-30964200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr13:30962200-30964200	Enhancers	Primary hematopoietic stem cells	blood
6	chr13:30962200-30964400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:30962200-30964400	Enhancers	Placenta	Placenta
8	chr13:30962400-30964200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:30962400-30964200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:30962600-30964200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:30962600-30964200	Enhancers	HMEC	breast
12	chr13:30962600-30964400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:30962600-30964400	Flanking Active TSS	Dnd41	blood
14	chr13:30963000-30964200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:30963000-30964200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:30963000-30964200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:30963000-30964400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr13:30963200-30964200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr13:30963200-30964200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:30963200-30964200	Enhancers	Fetal Kidney	kidney
21	chr13:30963200-30964200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:30963200-30964200	Flanking Active TSS	HepG2	liver
23	chr13:30963400-30966400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:30963600-30964200	Enhancers	Fetal Intestine Large	intestine
25	chr13:30963600-30964200	Enhancers	NHEK	skin
26	chr13:30963600-30964400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:30963600-30965800	Weak transcription	Fetal Brain Male	brain
28	chr13:30963800-30964200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr13:30963800-30964200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:30963800-30964200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:30963800-30964200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:30963800-30964200	Enhancers	Adipose Nuclei	Adipose
33	chr13:30963800-30964200	Enhancers	Fetal Intestine Small	intestine
34	chr13:30963800-30964400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr13:30963800-30964400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:30963800-30964400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr13:30963800-30964400	Enhancers	Liver	Liver
38	chr13:30963800-30964400	Enhancers	NHDF-Ad	bronchial
39	chr13:30963800-30965200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:30963800-30965400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr13:30963800-30966600	Weak transcription	Fetal Brain Female	brain
42	chr13:30963800-30966800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:30963800-30968200	Weak transcription	Primary B cells from cord blood	blood
44	chr13:30963800-30968400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:30963800-30968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:30963800-30968800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:30964000-30964200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:30964000-30964200	Enhancers	Rectal Smooth Muscle	rectum
49	chr13:30964000-30964400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr13:30964000-30964400	Enhancers	Primary T cells from cord blood	blood

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