Variant report

Variant	rs74130941
Chromosome Location	chr1:193216226-193216227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193214812..193216913-chr1:193219574..193221707,2	K562	blood:
2	chr1:193133772..193136004-chr1:193215250..193217762,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1221501	0.86[AFR][1000 genomes]
rs1536100	0.86[AFR][1000 genomes]
rs16835204	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265555	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2477550	0.90[EUR][1000 genomes]
rs41305084	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4657746	0.86[AFR][1000 genomes]
rs506721	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs551862	0.90[AFR][1000 genomes]
rs56986460	0.93[AFR][1000 genomes]
rs60563043	0.81[EUR][1000 genomes]
rs74130935	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130936	0.85[AFR][1000 genomes]
rs74130937	0.86[AFR][1000 genomes]
rs74130938	0.93[AFR][1000 genomes]
rs74130939	0.93[AFR][1000 genomes]
rs74130940	0.90[AFR][1000 genomes]
rs74130942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518409	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521045	1.00[EUR][1000 genomes]
rs7527486	0.81[EUR][1000 genomes]
rs7533841	0.81[EUR][1000 genomes]
rs7556154	0.93[AFR][1000 genomes]
rs7556241	0.93[AFR][1000 genomes]
rs817134	0.93[AFR][1000 genomes]
rs817135	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv947360	chr1:193212675-193222169	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv275037	chr1:193213198-193225083	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 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	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
6	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
7	chr1:193184400-193227600	Weak transcription	HMEC	breast
8	chr1:193185400-193218200	Weak transcription	HepG2	liver
9	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
10	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
11	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
12	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:193192200-193216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:193198600-193217000	Weak transcription	A549	lung
19	chr1:193198800-193216600	Weak transcription	Psoas Muscle	Psoas
20	chr1:193198800-193216600	Weak transcription	NHLF	lung
21	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:193202400-193216800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:193205600-193216400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:193205600-193216400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:193205600-193216600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:193205600-193216800	Weak transcription	NH-A	brain
28	chr1:193205800-193216600	Weak transcription	Placenta	Placenta
29	chr1:193205800-193216800	Weak transcription	NHDF-Ad	bronchial
30	chr1:193205800-193217400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:193207000-193216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:193207000-193216600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:193207800-193216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:193207800-193216600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:193208400-193216400	Weak transcription	Adipose Nuclei	Adipose
36	chr1:193208400-193216600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:193208400-193216600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:193209600-193219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:193210600-193216400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:193210600-193216800	Weak transcription	HSMMtube	muscle
41	chr1:193210800-193216800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:193210800-193228200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:193210800-193229200	Weak transcription	Gastric	stomach
44	chr1:193211000-193216600	Weak transcription	Thymus	Thymus
45	chr1:193211000-193217200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:193211200-193216400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:193211200-193216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:193211400-193216400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:193211400-193216400	Weak transcription	Fetal Intestine Large	intestine

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