Variant report

Variant	rs60794893
Chromosome Location	chr1:78272317-78272318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10518561	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12030080	0.96[AMR][1000 genomes]
rs60832898	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
3	chr1:78246200-78272800	Weak transcription	Psoas Muscle	Psoas
4	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
6	chr1:78246400-78272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:78246400-78273200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:78246400-78274000	Weak transcription	Fetal Kidney	kidney
9	chr1:78246400-78287400	Weak transcription	Fetal Heart	heart
10	chr1:78246600-78274200	Weak transcription	HMEC	breast
11	chr1:78247400-78278400	Weak transcription	Hela-S3	cervix
12	chr1:78247600-78272400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
14	chr1:78250400-78282400	Weak transcription	NHEK	skin
15	chr1:78250600-78279000	Weak transcription	NHLF	lung
16	chr1:78252000-78272600	Weak transcription	Spleen	Spleen
17	chr1:78252000-78272800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:78252200-78282600	Weak transcription	Right Ventricle	heart
19	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
20	chr1:78252800-78272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:78253000-78272800	Weak transcription	Thymus	Thymus
22	chr1:78253000-78273200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:78253000-78279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:78253000-78283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:78254400-78272800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:78254400-78274000	Weak transcription	HSMMtube	muscle
27	chr1:78254400-78287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:78254600-78272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:78255000-78272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:78260000-78275400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:78260600-78279800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:78261000-78273400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:78261600-78275200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:78262800-78273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:78262800-78285200	Weak transcription	Gastric	stomach
36	chr1:78263400-78275200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:78264200-78272600	Weak transcription	HUVEC	blood vessel
38	chr1:78264600-78273800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:78264600-78274400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:78266000-78298000	Weak transcription	K562	blood
41	chr1:78266200-78272600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:78266200-78272800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:78266200-78275400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:78266200-78299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:78266200-78299200	Weak transcription	Pancreas	Pancrea
46	chr1:78266400-78279400	Weak transcription	Brain Angular Gyrus	brain
47	chr1:78266600-78272400	Weak transcription	Brain Substantia Nigra	brain
48	chr1:78266600-78273000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:78266600-78284200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:78267200-78275200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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