Variant report

Variant	rs202107934
Chromosome Location	chr1:85462507-85462508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	ZEB1	chr1:85462507-85463768	GM12878	blood:	n/a	n/a
3	EBF1	chr1:85461040-85464248	GM12878	blood:	n/a	chr1:85463075-85463084 chr1:85462912-85462922 chr1:85463073-85463084
4	USF2	chr1:85462149-85462959	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr1:85462371-85463242	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:85459671-85465061	GM12892	blood:	n/a	n/a
7	TBP	chr1:85461053-85462869	GM12878	blood:	n/a	n/a
8	E2F6	chr1:85462424-85463020	H1-hESC	embryonic stem cell:	n/a	chr1:85462835-85462844 chr1:85462827-85462839 chr1:85462983-85462992
9	TBP	chr1:85462200-85462852	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:85461049-85464327	GM18951	blood:	n/a	n/a
11	SIN3AK20	chr1:85462438-85462852	PANC-1	pancreas:	n/a	n/a
12	MAX	chr1:85462304-85463390	H1-hESC	embryonic stem cell:	n/a	chr1:85462813-85462822 chr1:85463085-85463094
13	POLR2A	chr1:85461494-85464994	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:85462153-85462824	PANC-1	pancreas:	n/a	n/a
15	MAX	chr1:85462145-85463701	GM12878	blood:	n/a	chr1:85462813-85462822 chr1:85463085-85463094
16	RELA	chr1:85461100-85462794	GM12878	blood:	n/a	n/a
17	RELA	chr1:85461015-85462796	GM18505	blood:	n/a	n/a
18	POLR2A	chr1:85461102-85464291	GM18526	blood:	n/a	n/a
19	ELF1	chr1:85462435-85463628	GM12878	blood:	n/a	chr1:85462980-85462989
20	MTA3	chr1:85460680-85464125	GM12878	blood:	n/a	n/a
21	NFIC	chr1:85460718-85462632	GM12878	blood:	n/a	n/a
22	USF1	chr1:85462253-85462969	H1-hESC	embryonic stem cell:	n/a	n/a
23	STAT5A	chr1:85460893-85463850	GM12878	blood:	n/a	chr1:85463447-85463455 chr1:85461389-85461400
24	POLR2A	chr1:85459807-85464317	GM12892	blood:	n/a	n/a
25	MXI1	chr1:85462421-85462838	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:85462413-85463573	GM12878	blood:	n/a	n/a
27	RELA	chr1:85461141-85463082	GM12892	blood:	n/a	n/a
28	MAX	chr1:85462319-85463395	A549	lung:	n/a	chr1:85462813-85462822 chr1:85463085-85463094
29	HA-E2F1	chr1:85462153-85462827	MCF-7	breast:	n/a	chr1:85462244-85462251
30	POLR2A	chr1:85461608-85463709	GM15510	blood:	n/a	n/a
31	RELA	chr1:85461055-85463441	GM15510	blood:	n/a	n/a
32	KAP1	chr1:85462223-85462689	HEK293	kidney:	n/a	n/a
33	WRNIP1	chr1:85461590-85462728	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:85462419-85462989	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr1:85459795-85464999	GM12878	blood:	n/a	n/a
36	RELA	chr1:85461051-85463198	GM19099	blood:	n/a	n/a
37	STAT5A	chr1:85462132-85462519	GM12878	blood:	n/a	n/a
38	TAF1	chr1:85462428-85462836	GM12891	blood:	n/a	n/a
39	POLR2A	chr1:85462437-85463237	GM10847	blood:	n/a	n/a
40	PAX5	chr1:85462466-85463133	GM12878	blood:	n/a	n/a
41	FOXM1	chr1:85462130-85462733	GM12878	blood:	n/a	n/a
42	TAF1	chr1:85462478-85462840	GM12892	blood:	n/a	n/a
43	TAF1	chr1:85462449-85462962	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:85460981-85465011	GM19099	blood:	n/a	n/a
45	CHD2	chr1:85461067-85464026	GM12878	blood:	n/a	chr1:85462833-85462843 chr1:85462244-85462251
46	POLR2A	chr1:85462121-85462828	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:85461031-85464258	GM12892	blood:	n/a	n/a
48	GABPA	chr1:85462430-85462778	A549	lung:	n/a	n/a
49	POLR2A	chr1:85462111-85462835	GM12891	blood:	n/a	n/a
50	MTA3	chr1:85460926-85462831	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85462483-85462533	AG10803	skin:	n/a
2	chr1:85462483-85462533	NH-A	brain:	n/a
3	chr1:85462483-85462533	BE2_C	brain:	n/a
4	chr1:85462483-85462533	ProgFib	skin:	n/a
5	chr1:85462483-85462533	HMEC	breast:	n/a
6	chr1:85462483-85462533	HEK293	kidney:	embryo
7	chr1:85462483-85462533	K562	blood:	n/a
8	chr1:85462483-85462533	GM12891	blood:	n/a
9	chr1:85462483-85462533	SKMC	muscle:	n/a
10	chr1:85462483-85462533	PrEC	prostate:	n/a
11	chr1:85462483-85462533	GM06990	blood:	n/a
12	chr1:85462483-85462533	H1-hESC	embryonic stem cell:	embryo
13	chr1:85462483-85462533	HCPEpiC	choroid plexus:	n/a
14	chr1:85462483-85462533	HRCEpiC	kidney:	n/a
15	chr1:85462483-85462533	MCF10A-Er-Src	breast:	n/a
16	chr1:85462483-85462533	SAEC	small airway:	n/a
17	chr1:85462483-85462533	AoSMC	blood vessel:	n/a
18	chr1:85462483-85462533	T-47D	breast:	n/a
19	chr1:85462483-85462533	SK-N-MC	brain:	n/a
20	chr1:85462483-85462533	Jurkat	blood:	n/a
21	chr1:85462483-85462533	NT2-D1	testis:	n/a
22	chr1:85462483-85462533	RPTEC	kidney:	n/a
23	chr1:85462483-85462533	Hela-S3	cervix:	n/a
24	chr1:85462483-85462533	NHDF-neo	bronchial:	n/a
25	chr1:85462483-85462533	HNPCEpiC	eye:	n/a
26	chr1:85462483-85462533	NB4	blood:	n/a
27	chr1:85462483-85462533	SK-N-SH_RA	brain:	n/a
28	chr1:85462483-85462533	GM19239	blood:	n/a
29	chr1:85462483-85462533	PFSK-1	brain:	n/a
30	chr1:85462483-85462533	AG09319	gingival:	n/a
31	chr1:85462483-85462533	HAEpiC	amniotic membrane:	n/a
32	chr1:85462483-85462533	GM12878	blood:	n/a
33	chr1:85462483-85462533	HCT-116	colon:	n/a
34	chr1:85462483-85462533	Hepatocyte	liver:	n/a
35	chr1:85462483-85462533	NHBE	bronchial:	n/a
36	chr1:85462483-85462533	Caco-2	colon:	n/a
37	chr1:85462483-85462533	A549	lung:	n/a
38	chr1:85462483-85462533	GM12892	blood:	n/a
39	chr1:85462483-85462533	HUVEC	blood vessel:	n/a
40	chr1:85462483-85462533	MCF-7	breast:	n/a
41	chr1:85462483-85462533	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:85462483-85462533	PANC-1	pancreas:	n/a
43	chr1:85462483-85462533	HCM	heart:	n/a
44	chr1:85462483-85462533	HIPEpiC	eye:	n/a
45	chr1:85462483-85462533	HRE	kidney:	n/a
46	chr1:85462483-85462533	HepG2	liver:	n/a
47	chr1:85462483-85462533	HEEpiC	esophagus:	n/a
48	chr1:85462483-85462533	AG09309	skin:	n/a
49	chr1:85462483-85462533	ECC-1	luminal epithelium:	n/a
50	chr1:85462483-85462533	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
WDR63	TF binding region
WDR63	CpG island

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:124 , 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	chr1:85461800-85462800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:85461800-85463200	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:85461800-85463200	Active TSS	A549	lung
8	chr1:85461800-85463600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:85461800-85464400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:85461800-85464600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:85462000-85462600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr1:85462000-85462600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:85462000-85462600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:85462000-85463000	Active TSS	Colonic Mucosa	Colon
15	chr1:85462000-85463000	Active TSS	Right Ventricle	heart
16	chr1:85462000-85464200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
17	chr1:85462000-85464400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:85462000-85464400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr1:85462000-85464600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
22	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr1:85462200-85462600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
25	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:85462200-85462600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr1:85462200-85462600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:85462200-85462600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:85462200-85462600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
35	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
36	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr1:85462200-85462600	Flanking Active TSS	Esophagus	oesophagus
40	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr1:85462200-85462600	Active TSS	Fetal Heart	heart
42	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
43	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
44	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
45	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr1:85462200-85462600	Flanking Active TSS	Pancreas	Pancrea
47	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr1:85462200-85462600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr1:85462200-85462600	Flanking Bivalent TSS/Enh	Small Intestine	intestine

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