Variant report

Variant	rs72955239
Chromosome Location	chr3:52128901-52128902
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52111491..52114530-chr3:52124287..52129242,4	K562	blood:
2	chr3:52127256..52128902-chr3:52133250..52136103,2	MCF-7	breast:
3	chr3:52089068..52091833-chr3:52126790..52129092,3	MCF-7	breast:
4	chr3:52125293..52126965-chr3:52127079..52129013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164086	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10433611	1.00[AMR][1000 genomes]
rs2089225	1.00[AMR][1000 genomes]
rs323888	1.00[AMR][1000 genomes]
rs323899	1.00[AMR][1000 genomes]
rs323901	1.00[AMR][1000 genomes]
rs352646	1.00[AMR][1000 genomes]
rs35898691	1.00[AMR][1000 genomes]
rs57236484	1.00[AMR][1000 genomes]
rs59196507	1.00[AMR][1000 genomes]
rs61333587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6446153	1.00[AMR][1000 genomes]
rs72955243	1.00[AMR][1000 genomes]
rs72955259	1.00[AMR][1000 genomes]
rs72955260	1.00[AMR][1000 genomes]
rs72955262	1.00[AMR][1000 genomes]
rs72964041	1.00[AMR][1000 genomes]
rs7430706	1.00[AMR][1000 genomes]
rs7612847	1.00[AMR][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	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
6	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52105800-52142400	Weak transcription	Primary B cells from cord blood	blood
2	chr3:52109600-52129800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
4	chr3:52115800-52133000	Weak transcription	Gastric	stomach
5	chr3:52119600-52129000	Enhancers	Fetal Muscle Leg	muscle
6	chr3:52120600-52129200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:52121400-52129000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:52122000-52140000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:52122400-52130400	Enhancers	Fetal Heart	heart
10	chr3:52122600-52131000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:52122800-52129200	Weak transcription	GM12878-XiMat	blood
12	chr3:52122800-52142200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:52123600-52129600	Weak transcription	Fetal Brain Female	brain
14	chr3:52123600-52135200	Strong transcription	Dnd41	blood
15	chr3:52124200-52138200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:52124200-52157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:52124400-52132800	Weak transcription	Stomach Mucosa	stomach
18	chr3:52124600-52130200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:52124600-52134200	Weak transcription	A549	lung
20	chr3:52124800-52129200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:52124800-52130000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:52124800-52142000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:52125000-52130000	Weak transcription	HMEC	breast
24	chr3:52125000-52140400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:52125200-52129400	Weak transcription	Lung	lung
26	chr3:52125200-52132600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:52125400-52133400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:52125400-52138400	Weak transcription	Fetal Intestine Large	intestine
29	chr3:52125600-52132800	Strong transcription	Fetal Intestine Small	intestine
30	chr3:52125600-52135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:52125800-52132000	Weak transcription	K562	blood
32	chr3:52125800-52133400	Strong transcription	Thymus	Thymus
33	chr3:52125800-52134200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:52125800-52139800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:52125800-52142400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:52126000-52131000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:52126000-52132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:52126000-52132800	Strong transcription	Fetal Stomach	stomach
39	chr3:52126200-52135200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:52126200-52160600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:52126400-52132200	Weak transcription	Fetal Lung	lung
42	chr3:52126600-52130600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:52126600-52132400	Weak transcription	Brain Angular Gyrus	brain
44	chr3:52127000-52131800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:52127000-52132000	Weak transcription	Right Ventricle	heart
46	chr3:52127000-52132400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:52127000-52134600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:52127200-52129000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:52127200-52131800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:52127200-52132400	Strong transcription	H9 Cell Line	embryonic stem cell

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