Variant report

Variant	rs17021341
Chromosome Location	chr3:28341504-28341505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:28339828..28341827-chr3:28353831..28356696,2	K562	blood:
2	chr3:28326516..28328302-chr3:28341335..28343056,2	K562	blood:
3	chr3:28341190..28344465-chr3:28346449..28350558,4	K562	blood:
4	chr3:28330851..28335803-chr3:28340570..28345595,8	K562	blood:
5	chr3:28279881..28282644-chr3:28339325..28342183,2	K562	blood:
6	chr3:28339558..28341827-chr3:28352714..28356696,3	K562	blood:
7	chr3:28332857..28334622-chr3:28341463..28343085,2	K562	blood:

Variant related genes	Relation type
ENSG00000187118	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11712489	0.83[YRI][hapmap]
rs1606390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021177	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17021318	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021331	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021333	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021335	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021351	1.00[YRI][hapmap]
rs17021353	0.83[YRI][hapmap]
rs17021368	0.83[YRI][hapmap]
rs17021369	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021374	0.83[YRI][hapmap]
rs17021381	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021505	1.00[AMR][1000 genomes]
rs17029779	0.83[YRI][hapmap]
rs6770341	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:28314800-28343400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:28315000-28363000	Weak transcription	A549	lung
4	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
6	chr3:28317800-28343000	Weak transcription	HepG2	liver
7	chr3:28326400-28365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:28332800-28341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:28332800-28342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:28332800-28343600	Weak transcription	Fetal Kidney	kidney
11	chr3:28332800-28349000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:28332800-28360000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:28332800-28360200	Weak transcription	Left Ventricle	heart
14	chr3:28332800-28360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:28332800-28362400	Weak transcription	Primary B cells from cord blood	blood
16	chr3:28332800-28365200	Weak transcription	HSMMtube	muscle
17	chr3:28332800-28365400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:28333400-28349000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:28333600-28348800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:28333800-28343600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:28333800-28349200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:28336800-28359400	Weak transcription	K562	blood
23	chr3:28337200-28365200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:28337400-28360400	Weak transcription	Liver	Liver
25	chr3:28337400-28361000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:28337400-28363000	Weak transcription	GM12878-XiMat	blood
27	chr3:28337600-28356600	Weak transcription	Ovary	ovary
28	chr3:28337600-28360200	Weak transcription	Fetal Lung	lung
29	chr3:28337600-28360200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:28337600-28361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:28337800-28342400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:28337800-28342800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:28337800-28348800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:28337800-28355400	Weak transcription	Primary T cells from cord blood	blood
35	chr3:28338000-28359600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:28338000-28360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:28338000-28360600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:28338200-28364000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:28339600-28359200	Weak transcription	Dnd41	blood
40	chr3:28339800-28349000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:28340400-28349200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:28340800-28341800	Enhancers	Fetal Heart	heart
43	chr3:28341000-28341600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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