Variant report

Variant	rs74124242
Chromosome Location	chr1:172542427-172542428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172536299..172538930-chr1:172539967..172542813,2	MCF-7	breast:
2	chr1:172501115..172503585-chr1:172541113..172543776,2	K562	blood:
3	chr1:172540565..172542685-chr1:172550671..172552538,2	K562	blood:
4	chr1:172542019..172544781-chr1:172548161..172550127,2	K562	blood:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12134372	0.81[AFR][1000 genomes]
rs2472551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35344763	1.00[EUR][1000 genomes]
rs55678532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001419	1.00[EUR][1000 genomes]
rs56884575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57117081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57600271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58097538	1.00[EUR][1000 genomes]
rs58481917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58852323	1.00[EUR][1000 genomes]
rs58899638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296720	1.00[EUR][1000 genomes]
rs60345777	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60485575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692965	1.00[EUR][1000 genomes]
rs6683359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032190	1.00[EUR][1000 genomes]
rs73034011	1.00[EUR][1000 genomes]
rs74124226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124231	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124232	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124235	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124253	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124255	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124256	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124257	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124262	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526530	1.00[EUR][1000 genomes]
rs7538218	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3440967	chr1:172539754-172542702	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3333755	chr1:172540179-172542427	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 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	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
3	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
4	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
9	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:172528400-172547800	Weak transcription	A549	lung
12	chr1:172534800-172558000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:172535200-172547800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:172535200-172558000	Weak transcription	HSMMtube	muscle
15	chr1:172535400-172554200	Weak transcription	NHEK	skin
16	chr1:172535400-172558000	Weak transcription	Left Ventricle	heart
17	chr1:172535400-172558000	Weak transcription	Right Ventricle	heart
18	chr1:172535400-172558200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:172535600-172546400	Weak transcription	HepG2	liver
20	chr1:172535600-172558000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:172535600-172569200	Weak transcription	Gastric	stomach
22	chr1:172536000-172558000	Weak transcription	Fetal Stomach	stomach
23	chr1:172536000-172565400	Weak transcription	Ovary	ovary
24	chr1:172536000-172565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:172536000-172566000	Weak transcription	Aorta	Aorta
26	chr1:172537400-172565600	Weak transcription	Lung	lung
27	chr1:172538800-172547600	Weak transcription	Hela-S3	cervix
28	chr1:172539000-172543400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:172539800-172550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:172540200-172543200	Weak transcription	Osteobl	bone
31	chr1:172540200-172543800	Weak transcription	Brain Germinal Matrix	brain
32	chr1:172540200-172544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:172540200-172547400	Weak transcription	Fetal Brain Male	brain
34	chr1:172540200-172548200	Weak transcription	NHDF-Ad	bronchial
35	chr1:172540200-172550800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:172540200-172557400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:172540200-172558000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:172540200-172581000	Weak transcription	Colonic Mucosa	Colon
39	chr1:172540400-172542600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:172540400-172542800	Weak transcription	Primary B cells from cord blood	blood
41	chr1:172540400-172543000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:172540400-172543200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:172540400-172543200	Weak transcription	Liver	Liver
44	chr1:172540400-172543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:172540400-172543800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:172540400-172543800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:172540400-172544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:172540400-172544000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:172540400-172545000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:172540400-172546600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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