Variant report

Variant	rs2355324
Chromosome Location	chr3:50642109-50642110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
2	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:
3	chr3:50641854..50644392-chr3:51427006..51429676,2	MCF-7	breast:
4	chr3:50608161..50609853-chr3:50642051..50643670,2	K562	blood:

Variant related genes	Relation type
ENSG00000088543	Chromatin interaction
ENSG00000179837	Chromatin interaction
ENSG00000114735	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13321914	1.00[AMR][1000 genomes]
rs17050997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051020	1.00[AMR][1000 genomes]
rs17051027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2085581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232252	1.00[AMR][1000 genomes]
rs2355336	1.00[AFR][1000 genomes]
rs28496515	1.00[AMR][1000 genomes]
rs28525150	1.00[AMR][1000 genomes]
rs28546448	1.00[AMR][1000 genomes]
rs736472	1.00[AMR][1000 genomes]
rs751850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs762893	1.00[AMR][1000 genomes]
rs762894	1.00[AMR][1000 genomes]
rs9822071	1.00[AMR][1000 genomes]
rs9832171	1.00[AMR][1000 genomes]
rs9841390	1.00[AMR][1000 genomes]
rs9841986	1.00[AMR][1000 genomes]
rs9850032	1.00[AMR][1000 genomes]
rs9866852	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
3	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50636600-50643600	Enhancers	Left Ventricle	heart
2	chr3:50636800-50646000	Genic enhancers	Fetal Intestine Small	intestine
3	chr3:50638800-50647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:50639000-50642400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:50639000-50643600	Weak transcription	Aorta	Aorta
6	chr3:50639000-50643800	Weak transcription	Brain Germinal Matrix	brain
7	chr3:50639000-50648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:50639200-50642200	Enhancers	Stomach Mucosa	stomach
9	chr3:50639400-50642200	Weak transcription	GM12878-XiMat	blood
10	chr3:50639400-50648000	Weak transcription	Fetal Brain Female	brain
11	chr3:50639600-50642800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:50639600-50646800	Genic enhancers	Spleen	Spleen
13	chr3:50639600-50648000	Weak transcription	Fetal Brain Male	brain
14	chr3:50639800-50642800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:50639800-50644200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:50639800-50644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50639800-50648000	Weak transcription	HUVEC	blood vessel
18	chr3:50639800-50648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:50639800-50648200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:50639800-50648200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:50640000-50642200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:50640000-50642200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:50640000-50643200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:50640000-50644200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:50640000-50644600	Weak transcription	Thymus	Thymus
26	chr3:50640000-50647000	Genic enhancers	Fetal Muscle Leg	muscle
27	chr3:50640000-50648000	Weak transcription	Brain Substantia Nigra	brain
28	chr3:50640000-50648200	Weak transcription	NH-A	brain
29	chr3:50640200-50642400	Genic enhancers	Primary T cells from cord blood	blood
30	chr3:50640200-50642400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:50640200-50642600	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr3:50640200-50642800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:50640200-50643800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:50640200-50644200	Weak transcription	NHLF	lung
35	chr3:50640200-50646200	Enhancers	Fetal Heart	heart
36	chr3:50640200-50647600	Weak transcription	Brain Anterior Caudate	brain
37	chr3:50640200-50647600	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr3:50640400-50642800	Weak transcription	A549	lung
39	chr3:50640400-50643600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:50640400-50643800	Genic enhancers	Placenta	Placenta
41	chr3:50640400-50644200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:50640400-50646200	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr3:50640400-50646200	Genic enhancers	Fetal Intestine Large	intestine
44	chr3:50640400-50647200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:50640400-50648200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:50640400-50648200	Weak transcription	Osteobl	bone
47	chr3:50640600-50642200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr3:50640600-50642400	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:50640600-50643000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr3:50640600-50643200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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