Variant report

Variant	rs72740246
Chromosome Location	chr1:193211636-193211637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10489686	1.00[AFR][1000 genomes]
rs10494675	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10801186	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10921331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12116651	1.00[AFR][1000 genomes]
rs12119992	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122868	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123069	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123970	1.00[AFR][1000 genomes]
rs12124921	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12124924	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129126	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12133955	1.00[AFR][1000 genomes]
rs12135148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137353	1.00[AFR][1000 genomes]
rs12137391	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141336	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141455	1.00[AFR][1000 genomes]
rs12141559	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143361	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145609	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145761	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1325196	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17528639	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17592633	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17593120	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17601491	1.00[AFR][1000 genomes]
rs28930673	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28930674	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs528790	0.97[EUR][1000 genomes]
rs6663374	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682904	0.86[EUR][1000 genomes]
rs6685991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738589	1.00[AFR][1000 genomes]
rs72740227	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740228	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740230	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740259	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740261	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740270	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740276	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525157	0.94[EUR][1000 genomes]
rs817137	0.97[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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
4	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
7	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
8	chr1:193183400-193216000	Weak transcription	NHEK	skin
9	chr1:193184400-193227600	Weak transcription	HMEC	breast
10	chr1:193185400-193218200	Weak transcription	HepG2	liver
11	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
12	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
15	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
16	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
17	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:193192200-193216000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:193192200-193216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:193195600-193216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:193198600-193217000	Weak transcription	A549	lung
27	chr1:193198800-193216000	Weak transcription	GM12878-XiMat	blood
28	chr1:193198800-193216600	Weak transcription	Psoas Muscle	Psoas
29	chr1:193198800-193216600	Weak transcription	NHLF	lung
30	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:193202400-193216800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:193203800-193216000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:193205600-193216000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:193205600-193216000	Weak transcription	Fetal Kidney	kidney
36	chr1:193205600-193216000	Weak transcription	K562	blood
37	chr1:193205600-193216400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:193205600-193216400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:193205600-193216600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:193205600-193216800	Weak transcription	NH-A	brain
41	chr1:193205800-193214400	Weak transcription	Hela-S3	cervix
42	chr1:193205800-193215400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:193205800-193216600	Weak transcription	Placenta	Placenta
44	chr1:193205800-193216800	Weak transcription	NHDF-Ad	bronchial
45	chr1:193205800-193217400	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:193206000-193216000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:193206000-193216000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:193206200-193216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:193207000-193216000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:193207000-193216400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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