Variant report

Variant	rs61780322
Chromosome Location	chr1:101428415-101428416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61780279	1.00[ASN][1000 genomes]
rs61780316	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782086	1.00[AMR][1000 genomes]
rs61782103	1.00[AMR][1000 genomes]
rs61782145	1.00[AMR][1000 genomes]
rs72736243	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522064	chr1:101181342-101539866	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1012496	chr1:101295719-101466511	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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
3	nsv535033	chr1:101295719-101466511	Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1001142	chr1:101399403-101783520	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535034	chr1:101399403-101783520	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:101363000-101489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:101381600-101428800	Weak transcription	Fetal Brain Female	brain
3	chr1:101381600-101431200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:101382400-101431600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:101383000-101434200	Weak transcription	Fetal Brain Male	brain
6	chr1:101392200-101431200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:101392600-101463800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:101393200-101430000	Weak transcription	Hela-S3	cervix
9	chr1:101404600-101471400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:101404800-101435200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:101406800-101431400	Weak transcription	Brain Germinal Matrix	brain
12	chr1:101407400-101468200	Weak transcription	Right Ventricle	heart
13	chr1:101407600-101430000	Weak transcription	Ovary	ovary
14	chr1:101407600-101448200	Weak transcription	Aorta	Aorta
15	chr1:101407800-101431600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:101415600-101431600	Weak transcription	Gastric	stomach
17	chr1:101415600-101431600	Weak transcription	Spleen	Spleen
18	chr1:101415600-101432000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:101415600-101466600	Weak transcription	Colonic Mucosa	Colon
20	chr1:101415600-101473000	Weak transcription	Small Intestine	intestine
21	chr1:101415600-101490800	Weak transcription	Esophagus	oesophagus
22	chr1:101415800-101467200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:101416800-101431600	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:101416800-101432600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:101416800-101469800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:101417200-101430800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:101417200-101431600	Weak transcription	Lung	lung
28	chr1:101417200-101434600	Weak transcription	HSMMtube	muscle
29	chr1:101417200-101461200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:101417800-101430000	Weak transcription	Left Ventricle	heart
31	chr1:101417800-101430200	Weak transcription	Liver	Liver
32	chr1:101417800-101431400	Weak transcription	Pancreas	Pancrea
33	chr1:101417800-101431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:101417800-101431600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:101417800-101431600	Weak transcription	Fetal Intestine Small	intestine
36	chr1:101417800-101431600	Weak transcription	Fetal Stomach	stomach
37	chr1:101417800-101431600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:101417800-101432400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:101417800-101449600	Weak transcription	Psoas Muscle	Psoas
40	chr1:101418000-101428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:101418000-101430000	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:101418000-101431400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:101418200-101428600	Weak transcription	Placenta	Placenta
44	chr1:101418200-101430200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:101418200-101430600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:101418200-101430800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:101418200-101431200	Weak transcription	Thymus	Thymus
48	chr1:101418400-101430000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:101418400-101430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:101418400-101430200	Weak transcription	HepG2	liver

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