Variant report

Variant	rs72736552
Chromosome Location	chr1:221913464-221913465
allele	C/T
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	RAD21	chr1:221913441-221917304	IMR90	lung:	n/a	chr1:221916643-221916657 chr1:221915692-221915706
2	POLR2A	chr1:221913461-221917502	GM18526	blood:	n/a	n/a
3	JUND	chr1:221913430-221916491	SK-N-SH	brain:	n/a	chr1:221915656-221915665 chr1:221916021-221916035 chr1:221916217-221916226 chr1:221915505-221915514 chr1:221916221-221916230 chr1:221914973-221914982
4	POLR2A	chr1:221913364-221917603	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:221909168-221918546	GM12878	blood:	n/a	n/a
6	MTA3	chr1:221913418-221914606	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:221909243-221918347	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:221913221-221917867	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:221913322-221917588	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:221909298-221917710	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:221905289-221917384	K562	blood:	n/a	n/a
12	POLR2A	chr1:221913392-221917733	IMR90	lung:	n/a	n/a
13	USF2	chr1:221913003-221913791	GM12878	blood:	n/a	chr1:221913165-221913174 chr1:221913164-221913173 chr1:221913166-221913175 chr1:221913159-221913180 chr1:221913163-221913176 chr1:221913165-221913174
14	POLR2A	chr1:221913314-221917918	MCF10A-Er-Src	breast:	n/a	n/a
15	WRNIP1	chr1:221911967-221916057	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:221909055-221918437	GM12891	blood:	n/a	n/a
17	MXI1	chr1:221913428-221913811	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:221909363-221918298	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221912612..221914842-chr1:222041850..222044308,2	MCF-7	breast:
2	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
3	chr1:221900620..221902911-chr1:221912175..221914927,2	MCF-7	breast:
4	chr1:221828900..221831688-chr1:221913117..221915245,2	K562	blood:

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10779455	1.00[ASN][1000 genomes]
rs10863650	1.00[ASN][1000 genomes]
rs11118830	1.00[ASN][1000 genomes]
rs11118832	1.00[ASN][1000 genomes]
rs11118849	1.00[ASN][1000 genomes]
rs11118851	1.00[ASN][1000 genomes]
rs11576121	1.00[ASN][1000 genomes]
rs12058360	1.00[ASN][1000 genomes]
rs12129426	1.00[ASN][1000 genomes]
rs12134197	1.00[ASN][1000 genomes]
rs4603139	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56714236	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57933155	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58058349	1.00[ASN][1000 genomes]
rs58969712	1.00[ASN][1000 genomes]
rs59070710	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60950693	1.00[ASN][1000 genomes]
rs6679673	1.00[ASN][1000 genomes]
rs6689267	1.00[ASN][1000 genomes]
rs6693577	1.00[ASN][1000 genomes]
rs67225019	1.00[ASN][1000 genomes]
rs72736551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736557	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736561	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736562	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736563	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736565	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72736571	1.00[ASN][1000 genomes]
rs7340042	1.00[ASN][1000 genomes]
rs7534227	1.00[ASN][1000 genomes]
rs7549374	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221893000-221913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:221897200-221914200	Weak transcription	Aorta	Aorta
3	chr1:221898600-221913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:221901400-221913800	Weak transcription	Placenta	Placenta
5	chr1:221901800-221913600	Weak transcription	Hela-S3	cervix
6	chr1:221901800-221913800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:221904000-221913800	Weak transcription	Ovary	ovary
8	chr1:221907600-221913600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr1:221909400-221913800	Transcr. at gene 5' and 3'	HSMM	muscle
10	chr1:221909400-221914400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:221909600-221914200	Enhancers	Spleen	Spleen
12	chr1:221910400-221913800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:221910600-221913800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:221911000-221913600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:221911400-221913600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:221911400-221913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:221911400-221916800	Active TSS	Brain Anterior Caudate	brain
18	chr1:221911600-221913600	Weak transcription	Primary T cells from cord blood	blood
19	chr1:221911600-221913600	Weak transcription	Stomach Mucosa	stomach
20	chr1:221911600-221917200	Active TSS	Brain Angular Gyrus	brain
21	chr1:221911800-221913800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:221911800-221916800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:221912200-221913600	Enhancers	Right Ventricle	heart
24	chr1:221912200-221913600	Enhancers	K562	blood
25	chr1:221912200-221916800	Active TSS	Colon Smooth Muscle	Colon
26	chr1:221912400-221913600	Weak transcription	Primary B cells from cord blood	blood
27	chr1:221912400-221913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:221912400-221913800	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr1:221912400-221914000	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:221912400-221914600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:221912400-221916800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:221912600-221913600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:221912600-221913800	Enhancers	Left Ventricle	heart
34	chr1:221912800-221913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:221912800-221913600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr1:221912800-221913600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:221912800-221914000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:221912800-221914200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:221912800-221914200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:221912800-221914200	Enhancers	Small Intestine	intestine
41	chr1:221912800-221917000	Active TSS	Brain Hippocampus Middle	brain
42	chr1:221912800-221917000	Active TSS	Brain Substantia Nigra	brain
43	chr1:221912800-221917200	Active TSS	HSMMtube	muscle
44	chr1:221913000-221913600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:221913000-221913600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:221913000-221913600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:221913000-221913600	Flanking Active TSS	Liver	Liver
48	chr1:221913000-221913600	Enhancers	Fetal Lung	lung
49	chr1:221913000-221913600	Weak transcription	Gastric	stomach
50	chr1:221913000-221913600	Weak transcription	Right Atrium	heart

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