Variant report

Variant	rs73011271
Chromosome Location	chr1:150124258-150124259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:150120708-150124616	IMR90	lung:	n/a	chr1:150122211-150122221
2	POLR2A	chr1:150121015-150124391	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:150122855-150124712	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:150122828-150124645	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:150122830-150124656	GM12891	blood:	n/a	n/a
6	MXI1	chr1:150120907-150124920	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:150120758-150124804	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:150121688-150124546	IMR90	lung:	n/a	n/a
9	FOXM1	chr1:150123396-150124337	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:150123086-150124709	GM12891	blood:	n/a	n/a
11	WRNIP1	chr1:150122981-150124528	GM12878	blood:	n/a	n/a
12	CHD1	chr1:150122234-150124524	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:150120703-150124835	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:150120919-150124258	H1-neurons	neurons:	n/a	n/a
15	MAZ	chr1:150120991-150124771	IMR90	lung:	n/a	n/a
16	POLR2A	chr1:150122927-150124659	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:150122891-150128842	GM12892	blood:	n/a	n/a
18	RUNX3	chr1:150123243-150124552	GM12878	blood:	n/a	chr1:150123954-150123971
19	POLR2A	chr1:150122567-150124789	GM12878	blood:	n/a	n/a
20	RUNX3	chr1:150122923-150124334	GM12878	blood:	n/a	chr1:150123954-150123971
21	POLR2A	chr1:150123477-150124741	U87	brain:	n/a	n/a
22	MTA3	chr1:150122937-150124623	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:150121054-150124276	GM19099	blood:	n/a	n/a
24	POLR2A	chr1:150122674-150136351	U87	brain:	n/a	n/a
25	SPI1	chr1:150123616-150124465	HL-60	blood:	n/a	n/a
26	POLR2A	chr1:150122674-150124654	U87	brain:	n/a	n/a
27	CUX1	chr1:150124192-150124328	GM12878	blood:	n/a	n/a
28	ZNF143	chr1:150124111-150124266	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:150124051-150124261	GM12878	blood:	n/a	n/a
30	BCLAF1	chr1:150122894-150124323	GM12878	blood:	n/a	chr1:150123863-150123872
31	PML	chr1:150122715-150124616	GM12878	blood:	n/a	n/a
32	BCLAF1	chr1:150122973-150124359	GM12878	blood:	n/a	chr1:150123863-150123872
33	IKZF1	chr1:150123589-150124328	GM12878	blood:	n/a	n/a
34	RCOR1	chr1:150123312-150124445	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:150121624-150124300	GM19193	blood:	n/a	n/a
36	REST	chr1:150120520-150124319	H1-neurons	neurons:	n/a	chr1:150123686-150123699 chr1:150123683-150123696 chr1:150122337-150122350 chr1:150121262-150121269 chr1:150122214-150122224 chr1:150122083-150122093 chr1:150121925-150121938 chr1:150121681-150121701
37	POLR2A	chr1:150124071-150124541	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr1:150123417-150124466	HL-60	blood:	n/a	n/a
39	STAT5A	chr1:150122617-150124304	GM12878	blood:	n/a	chr1:150123817-150123829 chr1:150123163-150123187 chr1:150123616-150123628
40	POLR2A	chr1:150123477-150124691	U87	brain:	n/a	n/a
41	POLR2A	chr1:150122855-150124797	GM12892	blood:	n/a	n/a
42	IRF3	chr1:150124243-150124394	GM12878	blood:	n/a	n/a
43	EP300	chr1:150123509-150124310	GM12878	blood:	n/a	chr1:150123573-150123587
44	POLR2A	chr1:150123082-150124821	GM12891	blood:	n/a	n/a
45	MAZ	chr1:150121508-150124316	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:150122839-150124281	GM12878	blood:	n/a	n/a
47	ATF2	chr1:150123368-150124377	GM12878	blood:	n/a	n/a
48	MTA3	chr1:150122592-150124713	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:150120563-150124835	GM12878	blood:	n/a	n/a
50	USF2	chr1:150124189-150124293	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149855855..149861458-chr1:150123805..150130441,8	MCF-7	breast:
2	chr1:150047834..150051741-chr1:150120632..150125901,6	MCF-7	breast:
3	chr1:150033546..150035301-chr1:150123056..150125109,2	K562	blood:
4	chr1:150038076..150040720-chr1:150121290..150124944,3	K562	blood:
5	chr1:149855859..149860778-chr1:150121854..150124549,4	MCF-7	breast:
6	chr1:149856777..149860438-chr1:150121197..150124713,4	K562	blood:
7	chr1:150121582..150124449-chr1:150206466..150208946,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHO1	TF binding region
ENSG00000184260	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10157931	1.00[EUR][1000 genomes]
rs10158314	1.00[EUR][1000 genomes]
rs10494262	1.00[EUR][1000 genomes]
rs10494265	1.00[EUR][1000 genomes]
rs10788868	1.00[EUR][1000 genomes]
rs13374103	1.00[EUR][1000 genomes]
rs13375753	1.00[EUR][1000 genomes]
rs1545761	1.00[EUR][1000 genomes]
rs16833279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833591	1.00[EUR][1000 genomes]
rs16835153	1.00[AMR][1000 genomes]
rs16835652	1.00[EUR][1000 genomes]
rs16835982	1.00[AMR][1000 genomes]
rs3118123	1.00[EUR][1000 genomes]
rs57788184	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57819791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58820446	1.00[AMR][1000 genomes]
rs58834873	1.00[AMR][1000 genomes]
rs58922427	1.00[EUR][1000 genomes]
rs59082627	1.00[EUR][1000 genomes]
rs59682561	1.00[EUR][1000 genomes]
rs59821426	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60109648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60307722	1.00[EUR][1000 genomes]
rs60477778	1.00[AMR][1000 genomes]
rs60616215	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6587748	1.00[EUR][1000 genomes]
rs6671747	1.00[EUR][1000 genomes]
rs6689338	1.00[EUR][1000 genomes]
rs6689495	1.00[EUR][1000 genomes]
rs73011246	1.00[EUR][1000 genomes]
rs73011248	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73011264	1.00[EUR][1000 genomes]
rs73011273	1.00[EUR][1000 genomes]
rs73011320	1.00[AMR][1000 genomes]
rs73011380	1.00[EUR][1000 genomes]
rs73013116	1.00[AMR][1000 genomes]
rs73016142	1.00[EUR][1000 genomes]
rs73016148	1.00[EUR][1000 genomes]
rs73017005	1.00[AMR][1000 genomes]
rs73020880	1.00[AMR][1000 genomes]
rs74124337	1.00[EUR][1000 genomes]
rs74124339	1.00[EUR][1000 genomes]
rs7518016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520088	1.00[EUR][1000 genomes]
rs7527755	1.00[EUR][1000 genomes]
rs946521	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535152	chr1:150120726-150143089	Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150114800-150125200	Weak transcription	Hela-S3	cervix
2	chr1:150120800-150124400	Active TSS	Brain Anterior Caudate	brain
3	chr1:150120800-150125200	Active TSS	Brain Hippocampus Middle	brain
4	chr1:150120800-150125200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:150121000-150125000	Active TSS	Brain Angular Gyrus	brain
6	chr1:150121200-150124400	Active TSS	Psoas Muscle	Psoas
7	chr1:150121200-150124800	Active TSS	Lung	lung
8	chr1:150121400-150124400	Active TSS	Brain Substantia Nigra	brain
9	chr1:150121400-150124600	Active TSS	Esophagus	oesophagus
10	chr1:150121400-150124600	Active TSS	Left Ventricle	heart
11	chr1:150121400-150125800	Active TSS	Right Ventricle	heart
12	chr1:150121600-150125000	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:150121800-150125200	Active TSS	Liver	Liver
14	chr1:150123000-150124400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:150123000-150124600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:150123000-150124600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:150123000-150124600	Active TSS	Colonic Mucosa	Colon
18	chr1:150123000-150125200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:150123000-150125400	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr1:150123200-150124400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr1:150123200-150124400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:150123200-150124600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
23	chr1:150123200-150124800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:150123200-150124800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
25	chr1:150123200-150125200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr1:150123200-150125200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
27	chr1:150123200-150128600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
28	chr1:150123200-150135400	Weak transcription	A549	lung
29	chr1:150123400-150124400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:150123400-150124400	Active TSS	Placenta	Placenta
31	chr1:150123400-150124400	Enhancers	K562	blood
32	chr1:150123400-150124600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150123400-150124600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:150123400-150124600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
35	chr1:150123400-150124800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:150123400-150128000	Weak transcription	Gastric	stomach
37	chr1:150123400-150134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:150123400-150134400	Weak transcription	NHEK	skin
39	chr1:150123600-150124400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
40	chr1:150123600-150124400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr1:150123600-150124400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:150123600-150124600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr1:150123600-150124600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:150123600-150124600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:150123600-150124600	Flanking Active TSS	HSMMtube	muscle
46	chr1:150123600-150124800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:150123600-150125400	Transcr. at gene 5' and 3'	NH-A	brain
48	chr1:150123600-150127000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
49	chr1:150123600-150127000	Weak transcription	Small Intestine	intestine
50	chr1:150123800-150124400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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