Variant report

Variant	rs61612438
Chromosome Location	chr1:76229221-76229222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76226797..76230209-chr1:76256987..76259479,3	K562	blood:
3	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
4	chr1:76188926..76192007-chr1:76225372..76229604,4	K562	blood:
5	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
6	chr1:76227948..76230209-chr1:76256987..76259479,2	K562	blood:
7	chr1:76204248..76206118-chr1:76227096..76229498,2	K562	blood:
8	chr1:76222580..76224915-chr1:76228068..76230372,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000117054	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10465725	1.00[EUR][1000 genomes]
rs11161872	0.82[EUR][1000 genomes]
rs1144329	0.92[EUR][1000 genomes]
rs1146603	0.92[EUR][1000 genomes]
rs1146605	0.92[EUR][1000 genomes]
rs1146606	0.92[EUR][1000 genomes]
rs1146608	0.92[EUR][1000 genomes]
rs1146611	0.92[EUR][1000 genomes]
rs1146612	0.92[EUR][1000 genomes]
rs1146614	0.92[EUR][1000 genomes]
rs1146615	0.92[EUR][1000 genomes]
rs1146618	0.92[EUR][1000 genomes]
rs1146619	0.92[EUR][1000 genomes]
rs1146620	0.92[EUR][1000 genomes]
rs1146622	0.92[EUR][1000 genomes]
rs1146624	0.92[EUR][1000 genomes]
rs1146628	0.92[EUR][1000 genomes]
rs1146629	0.92[EUR][1000 genomes]
rs1146641	0.92[EUR][1000 genomes]
rs12074938	1.00[EUR][1000 genomes]
rs12079065	1.00[EUR][1000 genomes]
rs12079211	1.00[EUR][1000 genomes]
rs12079950	0.82[EUR][1000 genomes]
rs12081631	1.00[EUR][1000 genomes]
rs12093817	0.92[EUR][1000 genomes]
rs12094698	0.92[EUR][1000 genomes]
rs13376397	1.00[EUR][1000 genomes]
rs17097567	1.00[EUR][1000 genomes]
rs17097707	0.82[EUR][1000 genomes]
rs17097710	1.00[EUR][1000 genomes]
rs55781251	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55977041	1.00[EUR][1000 genomes]
rs56036152	0.80[AMR][1000 genomes]
rs56069207	0.80[AMR][1000 genomes]
rs56322662	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56364153	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57443433	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5745309	1.00[EUR][1000 genomes]
rs5745418	1.00[EUR][1000 genomes]
rs57798497	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58125729	1.00[EUR][1000 genomes]
rs59723961	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59932454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60219146	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60630670	0.80[AMR][1000 genomes]
rs60871503	0.80[AMR][1000 genomes]
rs61124994	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74088936	0.80[AMR][1000 genomes]
rs74088996	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088997	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74088999	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090705	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74090716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090717	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090737	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512465	1.00[EUR][1000 genomes]
rs7544911	0.84[EUR][1000 genomes]
rs815310	0.82[EUR][1000 genomes]
rs815311	0.82[EUR][1000 genomes]
rs9970840	1.00[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv933422	chr1:76226756-76229348	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
2	chr1:76208800-76231400	Weak transcription	A549	lung
3	chr1:76208800-76231400	Weak transcription	NHEK	skin
4	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
5	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
6	chr1:76209000-76230800	Weak transcription	NHLF	lung
7	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
8	chr1:76211600-76230800	Weak transcription	HMEC	breast
9	chr1:76217600-76231400	Weak transcription	Osteobl	bone
10	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:76220800-76229600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:76221200-76229600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:76221200-76229800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:76221200-76230200	Weak transcription	Small Intestine	intestine
15	chr1:76221200-76231400	Weak transcription	Gastric	stomach
16	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:76221400-76230000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
20	chr1:76221400-76231200	Weak transcription	NH-A	brain
21	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
22	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
23	chr1:76221600-76229400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:76221600-76230800	Weak transcription	Lung	lung
26	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
27	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
29	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
31	chr1:76221600-76231400	Weak transcription	Ovary	ovary
32	chr1:76221600-76231400	Weak transcription	HSMM	muscle
33	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
35	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
38	chr1:76221800-76229400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:76221800-76230000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood
41	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
42	chr1:76222000-76229400	Weak transcription	Left Ventricle	heart
43	chr1:76222000-76230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:76222000-76230800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:76222000-76231000	Weak transcription	Fetal Lung	lung
46	chr1:76222000-76231200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:76222000-76231600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:76222000-76233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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