Variant report

Variant	rs61333587
Chromosome Location	chr3:52141559-52141560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52107340..52110604-chr3:52139807..52142191,3	K562	blood:
2	chr3:52119415..52123026-chr3:52140546..52143765,3	K562	blood:
3	chr3:52140403..52143176-chr3:52145230..52148198,2	MCF-7	breast:

Extended variants
information (count: 23 )
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]
rs6446153	1.00[AMR][1000 genomes]
rs72955239	1.00[AFR][1000 genomes];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:5 , 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	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
3	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
4	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
5	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:93 , 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	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
3	chr3:52122800-52142200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:52124200-52157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:52124800-52142000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:52125800-52142400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:52126200-52160600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:52128400-52142200	Weak transcription	NHDF-Ad	bronchial
9	chr3:52128400-52142600	Weak transcription	NH-A	brain
10	chr3:52128600-52157000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:52129200-52155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:52131600-52142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:52132200-52146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:52132200-52155200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:52132400-52142600	Weak transcription	NHLF	lung
16	chr3:52132400-52143600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:52133000-52142400	Weak transcription	Fetal Lung	lung
18	chr3:52133000-52142400	Weak transcription	K562	blood
19	chr3:52133200-52142600	Weak transcription	Lung	lung
20	chr3:52133200-52143600	Weak transcription	HUVEC	blood vessel
21	chr3:52133200-52162000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:52133400-52142800	Weak transcription	Pancreas	Pancrea
23	chr3:52133400-52143800	Weak transcription	Stomach Mucosa	stomach
24	chr3:52133400-52144600	Weak transcription	Gastric	stomach
25	chr3:52133400-52155000	Weak transcription	Osteobl	bone
26	chr3:52133600-52142400	Weak transcription	HepG2	liver
27	chr3:52135400-52142000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:52135400-52142600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:52135800-52142200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52136200-52142000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:52136400-52142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:52136600-52153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:52136800-52142200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:52136800-52142600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:52136800-52143000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:52136800-52144200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:52136800-52154400	Weak transcription	Hela-S3	cervix
38	chr3:52136800-52155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:52136800-52156000	Weak transcription	A549	lung
40	chr3:52136800-52187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:52137000-52142200	Weak transcription	HSMM	muscle
42	chr3:52137200-52152400	Weak transcription	GM12878-XiMat	blood
43	chr3:52137600-52146600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:52138200-52153800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:52138800-52142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:52138800-52142200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:52138800-52149400	Strong transcription	Thymus	Thymus
48	chr3:52139600-52143600	Weak transcription	Fetal Intestine Large	intestine
49	chr3:52139600-52144800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:52139600-52151400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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