Variant report

Variant	rs74122311
Chromosome Location	chr1:170036403-170036404
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170032070..170034334-chr1:170034537..170036782,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11526503	0.85[AMR][1000 genomes]
rs12031030	0.85[AMR][1000 genomes]
rs1330369	0.85[AMR][1000 genomes]
rs16862905	0.85[AMR][1000 genomes]
rs16862931	0.97[ASN][1000 genomes]
rs16862963	0.85[AMR][1000 genomes]
rs16862985	0.85[AMR][1000 genomes]
rs28364665	0.98[ASN][1000 genomes]
rs6681074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6686398	0.85[AMR][1000 genomes]
rs74122304	0.85[AMR][1000 genomes]
rs74122307	0.85[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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:169999800-170036600	Weak transcription	Small Intestine	intestine
3	chr1:170018200-170042400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:170018800-170037000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:170018800-170040600	Weak transcription	Aorta	Aorta
6	chr1:170019000-170037000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:170019000-170041400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:170019000-170042600	Weak transcription	Thymus	Thymus
9	chr1:170019200-170036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:170019200-170042400	Weak transcription	Fetal Lung	lung
11	chr1:170024400-170037800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:170024600-170036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:170027800-170036600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:170032600-170036600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:170032600-170036600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:170032800-170036600	Weak transcription	Left Ventricle	heart
17	chr1:170032800-170036600	Weak transcription	Ovary	ovary
18	chr1:170032800-170037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:170032800-170040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:170032800-170042400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:170032800-170042600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:170033600-170036600	Weak transcription	HMEC	breast
23	chr1:170033800-170040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:170033800-170042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:170034200-170040200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:170035200-170037200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:170035600-170037400	Enhancers	K562	blood
28	chr1:170035600-170037600	Enhancers	Dnd41	blood
29	chr1:170035800-170037000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:170035800-170038600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:170035800-170038800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:170036000-170037800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:170036200-170036800	Flanking Active TSS	Liver	Liver
34	chr1:170036400-170036600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:170036400-170036600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr1:170036400-170036600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:170036400-170037000	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:170036400-170037000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:170036400-170037000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr1:170036400-170037000	Enhancers	Right Atrium	heart
41	chr1:170036400-170037000	Enhancers	Right Ventricle	heart
42	chr1:170036400-170037200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:170036400-170037200	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:170036400-170037200	Enhancers	Psoas Muscle	Psoas
45	chr1:170036400-170037200	Enhancers	HepG2	liver
46	chr1:170036400-170037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:170036400-170037400	Flanking Active TSS	GM12878-XiMat	blood
48	chr1:170036400-170037600	Enhancers	NHDF-Ad	bronchial
49	chr1:170036400-170037800	Enhancers	Fetal Heart	heart
50	chr1:170036400-170042200	Weak transcription	NHEK	skin

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