Variant report

Variant	rs114977652
Chromosome Location	chr1:85462246-85462247
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	EP300	chr1:85460996-85462548	GM12878	blood:	n/a	chr1:85461432-85461446 chr1:85461391-85461405 chr1:85462003-85462010
2	EBF1	chr1:85461040-85464248	GM12878	blood:	n/a	chr1:85463075-85463084 chr1:85462912-85462922 chr1:85463073-85463084
3	USF2	chr1:85462149-85462959	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:85459671-85465061	GM12892	blood:	n/a	n/a
5	TBP	chr1:85461053-85462869	GM12878	blood:	n/a	n/a
6	TBP	chr1:85462200-85462852	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:85461049-85464327	GM18951	blood:	n/a	n/a
8	POLR2A	chr1:85461494-85464994	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:85462153-85462824	PANC-1	pancreas:	n/a	n/a
10	MAX	chr1:85462145-85463701	GM12878	blood:	n/a	chr1:85462813-85462822 chr1:85463085-85463094
11	RELA	chr1:85461100-85462794	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:85462084-85462402	GM12878	blood:	n/a	n/a
13	RELA	chr1:85461015-85462796	GM18505	blood:	n/a	n/a
14	POLR2A	chr1:85461102-85464291	GM18526	blood:	n/a	n/a
15	MTA3	chr1:85460680-85464125	GM12878	blood:	n/a	n/a
16	NFIC	chr1:85460718-85462632	GM12878	blood:	n/a	n/a
17	STAT3	chr1:85460957-85462488	GM12878	blood:	n/a	chr1:85461389-85461400
18	STAT5A	chr1:85460893-85463850	GM12878	blood:	n/a	chr1:85463447-85463455 chr1:85461389-85461400
19	ATF2	chr1:85460975-85462328	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:85459807-85464317	GM12892	blood:	n/a	n/a
21	JUND	chr1:85462170-85462370	H1-hESC	embryonic stem cell:	n/a	n/a
22	RELA	chr1:85461141-85463082	GM12892	blood:	n/a	n/a
23	HA-E2F1	chr1:85462153-85462827	MCF-7	breast:	n/a	chr1:85462244-85462251
24	POLR2A	chr1:85461608-85463709	GM15510	blood:	n/a	n/a
25	RELA	chr1:85461055-85463441	GM15510	blood:	n/a	n/a
26	KAP1	chr1:85462223-85462689	HEK293	kidney:	n/a	n/a
27	NFATC1	chr1:85460966-85462398	GM12878	blood:	n/a	n/a
28	BCLAF1	chr1:85461500-85462338	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:85462113-85462450	GM12891	blood:	n/a	n/a
30	WRNIP1	chr1:85461590-85462728	GM12878	blood:	n/a	n/a
31	TAF1	chr1:85462116-85462376	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:85459795-85464999	GM12878	blood:	n/a	n/a
33	RELA	chr1:85461051-85463198	GM19099	blood:	n/a	n/a
34	STAT5A	chr1:85462132-85462519	GM12878	blood:	n/a	n/a
35	FOXM1	chr1:85462130-85462733	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:85460981-85465011	GM19099	blood:	n/a	n/a
37	CHD2	chr1:85461067-85464026	GM12878	blood:	n/a	chr1:85462833-85462843 chr1:85462244-85462251
38	POLR2A	chr1:85462121-85462828	GM12891	blood:	n/a	n/a
39	POLR2A	chr1:85461031-85464258	GM12892	blood:	n/a	n/a
40	POLR2A	chr1:85462111-85462835	GM12891	blood:	n/a	n/a
41	MTA3	chr1:85460926-85462831	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:85461655-85462966	GM12878	blood:	n/a	n/a
43	BCLAF1	chr1:85460942-85462854	GM12878	blood:	n/a	chr1:85461391-85461400
44	CHD1	chr1:85459740-85463594	GM12878	blood:	n/a	chr1:85462833-85462843 chr1:85462244-85462251
45	PML	chr1:85460644-85464009	GM12878	blood:	n/a	n/a
46	RUNX3	chr1:85461083-85463825	GM12878	blood:	n/a	n/a
47	RELA	chr1:85461088-85463296	GM18951	blood:	n/a	n/a
48	E2F6	chr1:85462180-85463456	H1-hESC	embryonic stem cell:	n/a	chr1:85463262-85463271 chr1:85462835-85462844 chr1:85462244-85462251 chr1:85462827-85462839 chr1:85462983-85462992
49	POLR2A	chr1:85462078-85462843	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:85461099-85464971	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
WDR63	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3515392	chr1:85437980-85465392	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3515393	chr1:85437980-85465392	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	esv3410983	chr1:85461789-85464337	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85460400-85463800	Active TSS	GM12878-XiMat	blood
2	chr1:85461200-85463400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:85461600-85462600	Flanking Active TSS	Primary B cells from peripheral blood	blood
4	chr1:85461600-85464400	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr1:85461800-85462400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr1:85461800-85462800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:85461800-85463200	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:85461800-85463200	Active TSS	A549	lung
9	chr1:85461800-85463600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:85461800-85464400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:85461800-85464600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:85462000-85462400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr1:85462000-85462600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr1:85462000-85462600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:85462000-85462600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:85462000-85463000	Active TSS	Colonic Mucosa	Colon
17	chr1:85462000-85463000	Active TSS	Right Ventricle	heart
18	chr1:85462000-85464200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
19	chr1:85462000-85464400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:85462000-85464400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr1:85462000-85464600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:85462200-85462400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:85462200-85462400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:85462200-85462400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr1:85462200-85462400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:85462200-85462400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr1:85462200-85462400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:85462200-85462400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:85462200-85462400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:85462200-85462400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:85462200-85462400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr1:85462200-85462400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
33	chr1:85462200-85462400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr1:85462200-85462400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:85462200-85462400	Bivalent Enhancer	Brain Angular Gyrus	brain
36	chr1:85462200-85462400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
37	chr1:85462200-85462400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:85462200-85462400	Active TSS	Colon Smooth Muscle	Colon
39	chr1:85462200-85462400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr1:85462200-85462400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr1:85462200-85462400	Enhancers	Gastric	stomach
42	chr1:85462200-85462400	Flanking Active TSS	Right Atrium	heart
43	chr1:85462200-85462400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr1:85462200-85462400	Bivalent Enhancer	HUVEC	blood vessel
45	chr1:85462200-85462400	Bivalent/Poised TSS	NHDF-Ad	bronchial
46	chr1:85462200-85462400	Bivalent/Poised TSS	Osteobl	bone
47	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr1:85462200-85462600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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