Variant report

Variant	rs4769029
Chromosome Location	chr13:30716552-30716553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30697642..30699768-chr13:30715433..30718388,2	MCF-7	breast:
2	chr13:30707361..30710289-chr13:30714464..30717739,4	MCF-7	breast:
3	chr13:30690726..30692990-chr13:30715205..30717386,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1409506	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2151207	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56244909	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61946864	0.82[ASN][1000 genomes]
rs61946866	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61946867	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8001967	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9550530	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9551852	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9551853	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9634359	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:30708800-30716800	Weak transcription	Brain Anterior Caudate	brain
3	chr13:30712600-30717000	Weak transcription	Brain Angular Gyrus	brain
4	chr13:30712800-30716600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:30712800-30716600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:30712800-30716600	Weak transcription	Fetal Lung	lung
7	chr13:30712800-30716800	Weak transcription	Lung	lung
8	chr13:30713000-30716600	Weak transcription	A549	lung
9	chr13:30714400-30718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:30714600-30717800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:30714600-30721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr13:30715200-30716600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:30715200-30717000	Enhancers	Dnd41	blood
15	chr13:30715200-30717400	Enhancers	Primary B cells from peripheral blood	blood
16	chr13:30715200-30717400	Enhancers	Fetal Thymus	thymus
17	chr13:30715200-30718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30715200-30727600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:30715400-30716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:30715400-30716800	Weak transcription	Pancreas	Pancrea
21	chr13:30715400-30717200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:30715400-30718800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:30715400-30720000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:30715400-30727200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr13:30715400-30727200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr13:30715600-30717400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr13:30715600-30717800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:30715600-30718200	Enhancers	Primary T cells from cord blood	blood
29	chr13:30715600-30719000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:30715600-30720000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr13:30715600-30720000	Enhancers	GM12878-XiMat	blood
32	chr13:30715800-30716800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:30715800-30718200	Enhancers	Placenta	Placenta
34	chr13:30715800-30718400	Enhancers	Adipose Nuclei	Adipose
35	chr13:30715800-30718400	Enhancers	NHDF-Ad	bronchial
36	chr13:30716000-30716600	Enhancers	Hela-S3	cervix
37	chr13:30716000-30716800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:30716000-30716800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:30716000-30716800	Enhancers	NHEK	skin
40	chr13:30716000-30716800	Enhancers	Osteobl	bone
41	chr13:30716000-30717000	Enhancers	HMEC	breast
42	chr13:30716000-30717200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:30716000-30717600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:30716000-30717600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:30716000-30717600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr13:30716000-30717600	Enhancers	NHLF	lung
47	chr13:30716000-30717800	Enhancers	Colon Smooth Muscle	Colon
48	chr13:30716000-30718000	Enhancers	Fetal Muscle Leg	muscle
49	chr13:30716000-30718200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:30716000-30718400	Enhancers	HUVEC	blood vessel

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