Variant report

Variant	rs17052329
Chromosome Location	chr3:52641122-52641123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52635882..52639721-chr3:52640182..52642371,3	K562	blood:
2	chr3:52638221..52639906-chr3:52640595..52642416,2	K562	blood:
3	chr3:52569398..52572124-chr3:52639964..52643455,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168273	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55662247	0.84[AFR][1000 genomes]
rs55971019	0.90[AFR][1000 genomes]
rs59277755	0.90[AFR][1000 genomes]
rs73839121	0.84[AFR][1000 genomes]
rs73839167	0.90[AFR][1000 genomes]
rs7638914	1.00[ASW][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]

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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:52634200-52647800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:52634800-52654400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:52634800-52654400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:52634800-52686000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr3:52635200-52641800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:52635200-52641800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:52635400-52649000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:52635600-52654200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:52635600-52655200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:52635800-52654400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:52635800-52654600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr3:52635800-52654600	Strong transcription	Adipose Nuclei	Adipose
16	chr3:52635800-52657800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:52636000-52641400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:52636000-52643800	Strong transcription	Fetal Brain Male	brain
19	chr3:52636000-52646800	Strong transcription	Fetal Lung	lung
20	chr3:52636000-52651000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:52636000-52653200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:52636000-52653200	Strong transcription	Fetal Intestine Large	intestine
23	chr3:52636000-52654400	Strong transcription	Fetal Thymus	thymus
24	chr3:52636000-52655200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr3:52636000-52703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:52636000-52704000	Strong transcription	Placenta	Placenta
27	chr3:52636200-52643800	Strong transcription	HSMM	muscle
28	chr3:52636200-52653600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:52636200-52703200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:52636400-52641600	Weak transcription	Right Ventricle	heart
31	chr3:52636400-52643400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:52636400-52648000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:52636400-52654600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:52636600-52641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:52636600-52642000	Weak transcription	Aorta	Aorta
36	chr3:52636600-52643400	Weak transcription	Spleen	Spleen
37	chr3:52636600-52644400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:52636600-52644400	Strong transcription	Fetal Kidney	kidney
39	chr3:52636600-52645000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:52636600-52649200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:52636600-52654800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:52636600-52669200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:52636600-52673600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:52636600-52677400	Weak transcription	Pancreas	Pancrea
45	chr3:52636800-52643400	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:52636800-52646000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:52636800-52647200	Strong transcription	Primary B cells from cord blood	blood
48	chr3:52636800-52652800	Strong transcription	Fetal Brain Female	brain
49	chr3:52636800-52654600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:52636800-52654800	Strong transcription	Fetal Muscle Leg	muscle

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