Variant report

Variant	rs73034720
Chromosome Location	chr1:180793212-180793213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57135776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700142	1.00[AMR][1000 genomes]
rs73034745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034836	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034840	1.00[AMR][1000 genomes]
rs73040999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73044555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047756	1.00[AMR][1000 genomes]
rs73051243	0.87[AFR][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	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180755400-180803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:180755400-180820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:180756800-180810200	Weak transcription	Fetal Brain Male	brain
5	chr1:180758000-180804000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:180759000-180794800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:180761400-180794000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:180761400-180796400	Weak transcription	HMEC	breast
9	chr1:180761400-180804600	Weak transcription	Aorta	Aorta
10	chr1:180763600-180806800	Weak transcription	Psoas Muscle	Psoas
11	chr1:180767400-180820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:180767600-180795400	Weak transcription	Thymus	Thymus
13	chr1:180768000-180812000	Weak transcription	Pancreas	Pancrea
14	chr1:180769000-180802000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:180771000-180813600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:180772000-180823200	Weak transcription	Fetal Stomach	stomach
17	chr1:180772200-180801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:180773000-180799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:180773000-180802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:180773800-180796600	Weak transcription	Spleen	Spleen
22	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:180774000-180806800	Weak transcription	Placenta	Placenta
24	chr1:180774400-180797200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:180775000-180794000	Weak transcription	NH-A	brain
26	chr1:180775000-180831600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:180775600-180796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:180776400-180798400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:180776400-180801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:180776600-180801800	Weak transcription	Dnd41	blood
31	chr1:180777600-180795800	Weak transcription	A549	lung
32	chr1:180778400-180794200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:180778400-180799400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:180778600-180805600	Weak transcription	Brain Germinal Matrix	brain
35	chr1:180779000-180807400	Weak transcription	Right Ventricle	heart
36	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
37	chr1:180780000-180801600	Weak transcription	Brain Angular Gyrus	brain
38	chr1:180781400-180796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:180781600-180801600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:180781600-180805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:180781800-180794200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:180781800-180795600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:180781800-180796200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:180781800-180807000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:180781800-180810400	Weak transcription	HSMM	muscle
46	chr1:180782200-180799800	Weak transcription	Ovary	ovary
47	chr1:180782200-180801800	Weak transcription	Adipose Nuclei	Adipose
48	chr1:180782200-180817800	Weak transcription	Lung	lung
49	chr1:180782400-180794200	Weak transcription	Left Ventricle	heart
50	chr1:180782400-180794400	Weak transcription	Monocytes-CD14+_RO01746	blood

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