Variant report

Variant	rs17021351
Chromosome Location	chr3:28353058-28353059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:28342955..28345727-chr3:28352086..28355047,3	K562	blood:
2	chr3:28339558..28341827-chr3:28352714..28356696,3	K562	blood:
3	chr3:28351899..28354944-chr3:28356131..28358818,3	K562	blood:
4	chr3:28342823..28344714-chr3:28352945..28355047,2	K562	blood:

Variant related genes	Relation type
ENSG00000187118	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11712489	0.83[YRI][hapmap]
rs17021177	1.00[YRI][hapmap]
rs17021318	1.00[YRI][hapmap]
rs17021331	1.00[YRI][hapmap]
rs17021333	1.00[YRI][hapmap]
rs17021335	1.00[YRI][hapmap]
rs17021341	1.00[YRI][hapmap]
rs17021353	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021368	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021369	1.00[YRI][hapmap]
rs17021371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021374	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17021505	1.00[YRI][hapmap]
rs17029779	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7639746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7643610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7651491	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:49 , 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	chr3:28315000-28363000	Weak transcription	A549	lung
3	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
5	chr3:28326400-28365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:28332800-28360000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:28332800-28360200	Weak transcription	Left Ventricle	heart
8	chr3:28332800-28360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:28332800-28362400	Weak transcription	Primary B cells from cord blood	blood
10	chr3:28332800-28365200	Weak transcription	HSMMtube	muscle
11	chr3:28332800-28365400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:28336800-28359400	Weak transcription	K562	blood
13	chr3:28337200-28365200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:28337400-28360400	Weak transcription	Liver	Liver
15	chr3:28337400-28361000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:28337400-28363000	Weak transcription	GM12878-XiMat	blood
17	chr3:28337600-28356600	Weak transcription	Ovary	ovary
18	chr3:28337600-28360200	Weak transcription	Fetal Lung	lung
19	chr3:28337600-28360200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:28337600-28361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:28337800-28355400	Weak transcription	Primary T cells from cord blood	blood
22	chr3:28338000-28359600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:28338000-28360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:28338000-28360600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:28338200-28364000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:28339600-28359200	Weak transcription	Dnd41	blood
27	chr3:28343800-28383800	Weak transcription	Aorta	Aorta
28	chr3:28347400-28360000	Weak transcription	Fetal Intestine Large	intestine
29	chr3:28348600-28360000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:28348600-28365200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:28349000-28365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:28349400-28364200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:28349400-28365600	Weak transcription	Psoas Muscle	Psoas
34	chr3:28349600-28365400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:28349800-28359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:28349800-28389400	Weak transcription	Gastric	stomach
37	chr3:28350000-28359600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:28350000-28363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:28350000-28376800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:28350200-28361600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:28350400-28365400	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:28350600-28360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:28350800-28353200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:28351200-28355200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr3:28351200-28366600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:28351400-28365600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:28351400-28366800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr3:28352800-28360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:28353000-28353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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