Variant report

Variant	rs4846351
Chromosome Location	chr1:221917378-221917379
allele	A/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	ATF2	chr1:221914976-221917478	GM12878	blood:	n/a	n/a
2	USF2	chr1:221916917-221917498	GM12878	blood:	n/a	n/a
3	CHD2	chr1:221914975-221917455	GM12878	blood:	n/a	chr1:221916212-221916222
4	POLR2A	chr1:221913461-221917502	GM18526	blood:	n/a	n/a
5	POLR2A	chr1:221913364-221917603	GM12892	blood:	n/a	n/a
6	CHD1	chr1:221914149-221917620	GM12878	blood:	n/a	chr1:221916212-221916222
7	BCLAF1	chr1:221915602-221917461	GM12878	blood:	n/a	chr1:221916273-221916286 chr1:221916645-221916658 chr1:221915692-221915705
8	POLR2A	chr1:221909168-221918546	GM12878	blood:	n/a	n/a
9	FOXM1	chr1:221916549-221917578	GM12878	blood:	n/a	n/a
10	EBF1	chr1:221916908-221917482	GM12878	blood:	n/a	chr1:221917247-221917258
11	POLR2A	chr1:221915610-221917433	GM12891	blood:	n/a	n/a
12	WRNIP1	chr1:221916835-221917411	GM12878	blood:	n/a	n/a
13	EBF1	chr1:221916989-221917470	GM12878	blood:	n/a	chr1:221917247-221917258
14	POLR2A	chr1:221915063-221917414	GM12878	blood:	n/a	n/a
15	RCOR1	chr1:221916217-221917458	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:221914985-221917487	GM12892	blood:	n/a	n/a
17	POLR2A	chr1:221915043-221917379	GM10847	blood:	n/a	n/a
18	RUNX3	chr1:221914699-221917421	GM12878	blood:	n/a	n/a
19	EP300	chr1:221916885-221917467	GM12878	blood:	n/a	chr1:221916986-221917000
20	PAX5	chr1:221917020-221917489	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:221909243-221918347	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:221913221-221917867	GM12878	blood:	n/a	n/a
23	CUX1	chr1:221917062-221917388	GM12878	blood:	n/a	n/a
24	BCLAF1	chr1:221914881-221917468	GM12878	blood:	n/a	chr1:221916273-221916286 chr1:221916645-221916658 chr1:221915692-221915705 chr1:221914971-221914980
25	RELA	chr1:221917007-221917467	GM19193	blood:	n/a	n/a
26	POLR2A	chr1:221913746-221918072	GM18505	blood:	n/a	n/a
27	POLR2A	chr1:221913322-221917588	GM12892	blood:	n/a	n/a
28	RELA	chr1:221916833-221917489	GM12878	blood:	n/a	n/a
29	RAD21	chr1:221916985-221917408	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:221917318-221917417	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:221909298-221917710	GM12878	blood:	n/a	n/a
32	FOXM1	chr1:221916654-221917504	GM12878	blood:	n/a	n/a
33	ZNF143	chr1:221914520-221917439	GM12878	blood:	n/a	chr1:221916190-221916208 chr1:221916381-221916399
34	MTA3	chr1:221916630-221917461	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:221914974-221917488	GM12891	blood:	n/a	n/a
36	NFIC	chr1:221916553-221917498	GM12878	blood:	n/a	n/a
37	RELA	chr1:221916887-221917456	GM18526	blood:	n/a	n/a
38	EP300	chr1:221916982-221917490	GM12878	blood:	n/a	chr1:221916986-221917000
39	POLR2A	chr1:221905289-221917384	K562	blood:	n/a	n/a
40	POLR2A	chr1:221914745-221917387	Hela-S3	cervix:	n/a	n/a
41	PAX5	chr1:221917010-221917447	GM12878	blood:	n/a	chr1:221917016-221917025
42	POLR2A	chr1:221913884-221917487	GM18951	blood:	n/a	n/a
43	MXI1	chr1:221914047-221917430	GM12878	blood:	n/a	n/a
44	MAX	chr1:221915099-221917612	GM12878	blood:	n/a	chr1:221916895-221916904 chr1:221916101-221916110 chr1:221916100-221916110
45	POLR2A	chr1:221913392-221917733	IMR90	lung:	n/a	n/a
46	POLR2A	chr1:221914929-221917491	GM12891	blood:	n/a	n/a
47	MXI1	chr1:221913610-221917439	SK-N-SH	brain:	n/a	n/a
48	RELA	chr1:221916721-221917489	GM19099	blood:	n/a	n/a
49	TBP	chr1:221916779-221917407	GM12878	blood:	n/a	n/a
50	RELA	chr1:221916822-221917484	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221916288..221917841-chr1:221930894..221932532,2	MCF-7	breast:
2	chr1:221910710..221913145-chr1:221916027..221918858,3	MCF-7	breast:
3	chr1:221915773..221917564-chr1:221920253..221922492,3	MCF-7	breast:
4	chr1:221916305..221918049-chr1:221927008..221929788,2	K562	blood:
5	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:
6	chr1:221915847..221918268-chr1:222049176..222051061,2	K562	blood:
7	chr1:221915958..221917862-chr1:221982281..221984311,2	MCF-7	breast:
8	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:
9	chr1:221915763..221917609-chr1:221970690..221972444,2	MCF-7	breast:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11118845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1141714	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4317817	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4319339	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6690778	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	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
7	esv3423401	chr1:221915354-221917902	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221913000-221917400	Active TSS	Brain Cingulate Gyrus	brain
2	chr1:221913200-221917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:221913400-221917400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:221914200-221917400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:221914400-221917400	Active TSS	Osteobl	bone
6	chr1:221916400-221917400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:221916600-221917400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:221916600-221917400	Flanking Active TSS	NHEK	skin
9	chr1:221916800-221917400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:221916800-221917400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:221916800-221917400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:221916800-221917400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:221916800-221917400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:221916800-221917400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:221916800-221917400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:221916800-221917400	Flanking Active TSS	Liver	Liver
17	chr1:221916800-221917400	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr1:221916800-221917400	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr1:221916800-221917400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:221916800-221917400	Flanking Active TSS	Hela-S3	cervix
21	chr1:221916800-221917400	Flanking Active TSS	HepG2	liver
22	chr1:221916800-221917400	Flanking Active TSS	HMEC	breast
23	chr1:221916800-221917400	Flanking Active TSS	HSMM	muscle
24	chr1:221916800-221917400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:221917000-221917400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:221917000-221917400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:221917000-221917400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:221917000-221917400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:221917000-221917400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:221917000-221917400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:221917000-221917400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:221917000-221917400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:221917000-221917400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:221917000-221917400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:221917000-221917400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:221917000-221917400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:221917000-221917400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:221917000-221917400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:221917000-221917400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:221917000-221917400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:221917000-221917400	Enhancers	Fetal Thymus	thymus
42	chr1:221917000-221917400	Enhancers	Gastric	stomach
43	chr1:221917000-221917400	Enhancers	Lung	lung
44	chr1:221917000-221917400	Enhancers	Pancreas	Pancrea
45	chr1:221917000-221917400	Enhancers	Spleen	Spleen
46	chr1:221917000-221917400	Flanking Active TSS	A549	lung
47	chr1:221917000-221917400	Flanking Active TSS	K562	blood
48	chr1:221917000-221917400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr1:221917000-221917400	Flanking Active TSS	NHLF	lung
50	chr1:221917000-221917600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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