Variant report

Variant	rs552402982
Chromosome Location	chr4:85886974-85886975
allele	A/C
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	MAX	chr4:85886835-85887570	H1-hESC	embryonic stem cell:	n/a	chr4:85887375-85887385 chr4:85886939-85886949
2	POLR2A	chr4:85886540-85888510	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:85886798-85887471	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr4:85886860-85888131	K562	blood:	n/a	chr4:85887085-85887094 chr4:85887332-85887341 chr4:85886962-85886971
5	ZNF263	chr4:85886280-85888842	HEK293-T-REx	kidney:	n/a	chr4:85887026-85887035 chr4:85887861-85887882 chr4:85887800-85887821
6	CTBP2	chr4:85886711-85888497	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:85886602-85887475	H1-neurons	neurons:	n/a	n/a
8	YY1	chr4:85886540-85888266	SK-N-SH	brain:	n/a	chr4:85887162-85887176 chr4:85887160-85887171 chr4:85887159-85887173 chr4:85887165-85887179 chr4:85887159-85887168 chr4:85887261-85887270 chr4:85886936-85886950 chr4:85887156-85887170 chr4:85887372-85887386 chr4:85887162-85887171 chr4:85887146-85887160 chr4:85887411-85887425 chr4:85887332-85887341 chr4:85887785-85887802
9	POLR2A	chr4:85886963-85888228	ECC-1	luminal epithelium:	n/a	n/a
10	MYC	chr4:85886915-85887930	MCF-7	breast:	n/a	chr4:85887375-85887385 chr4:85886939-85886949
11	POLR2A	chr4:85886703-85888841	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:85886931-85887479	HUVEC	blood vessel:	n/a	n/a
13	EGR1	chr4:85886720-85887346	H1-hESC	embryonic stem cell:	n/a	chr4:85886875-85886885 chr4:85886984-85886995 chr4:85887324-85887334 chr4:85887331-85887341 chr4:85886983-85886996
14	POLR2A	chr4:85886803-85888473	HUVEC	blood vessel:	n/a	n/a
15	UBTF	chr4:85886714-85888559	K562	blood:	n/a	n/a
16	CTCF	chr4:85886946-85887249	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr4:85886396-85888647	H1-neurons	neurons:	n/a	chr4:85887199-85887208 chr4:85887187-85887200
18	POLR2A	chr4:85886737-85888499	Gliobla	brain:	n/a	n/a
19	YY1	chr4:85886835-85888010	NT2-D1	testis:	n/a	chr4:85887162-85887176 chr4:85887160-85887171 chr4:85887159-85887173 chr4:85887165-85887179 chr4:85887159-85887168 chr4:85887261-85887270 chr4:85886936-85886950 chr4:85887156-85887170 chr4:85887372-85887386 chr4:85887162-85887171 chr4:85887146-85887160 chr4:85887411-85887425 chr4:85887332-85887341 chr4:85887785-85887802
20	MXI1	chr4:85886355-85888955	IMR90	lung:	n/a	n/a
21	POLR2A	chr4:85886828-85888481	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:85886960-85887110	NHLF	lung:	n/a	n/a
23	RAD21	chr4:85886620-85887344	SK-N-SH_RA	brain:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
24	SMARCB1	chr4:85886892-85888482	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr4:85886662-85887456	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr4:85886331-85889284	IMR90	lung:	n/a	chr4:85887375-85887385 chr4:85888941-85888951 chr4:85886939-85886949
27	POLR2A	chr4:85886705-85888638	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:85886960-85887110	HVMF	connective:	n/a	n/a
29	POLR2A	chr4:85886656-85887506	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr4:85886900-85887050	HPF	lung:	n/a	chr4:85886927-85886940
31	ZBTB7A	chr4:85886654-85887513	ECC-1	luminal epithelium:	n/a	chr4:85887455-85887462
32	RAD21	chr4:85886604-85887357	IMR90	lung:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
33	TAF1	chr4:85886630-85887176	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr4:85886934-85887355	MCF-7	breast:	n/a	n/a
35	CTCF	chr4:85886952-85887344	ProgFib	skin:	n/a	n/a
36	HCFC1	chr4:85886858-85887398	K562	blood:	n/a	n/a
37	HDAC2	chr4:85886940-85887417	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr4:85886735-85888125	PANC-1	pancreas:	n/a	n/a
39	YY1	chr4:85886608-85887036	H1-hESC	embryonic stem cell:	n/a	chr4:85886936-85886950
40	TCF12	chr4:85886969-85888178	ECC-1	luminal epithelium:	n/a	n/a
41	NFIC	chr4:85886913-85887462	ECC-1	luminal epithelium:	n/a	n/a
42	RAD21	chr4:85886653-85887507	H1-hESC	embryonic stem cell:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
43	CTCF	chr4:85886960-85887110	BJ	skin:	n/a	n/a
44	HMGN3	chr4:85886718-85888096	K562	blood:	n/a	n/a
45	CTCF	chr4:85886877-85887359	K562	blood:	n/a	chr4:85886927-85886940
46	ZBTB7A	chr4:85886880-85887313	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:85886754-85888297	HepG2	liver:	n/a	n/a
48	CTCF	chr4:85886935-85887081	NHEK	skin:	n/a	n/a
49	POLR2A	chr4:85886539-85888905	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr4:85886840-85886990	AoAF	blood vessel:	n/a	chr4:85886927-85886940

No.	Distal block	Cell Line	Cell type
1	chr4:85879778..85882729-chr4:85884440..85887298,2	K562	blood:
2	chr4:85820113..85822349-chr4:85884941..85887197,2	MCF-7	breast:
3	chr4:85503339..85505737-chr4:85885750..85887907,3	MCF-7	breast:
4	chr4:85881229..85883388-chr4:85885235..85887298,2	K562	blood:
5	chr4:85790487..85793474-chr4:85885792..85887497,2	MCF-7	breast:

Variant related genes	Relation type
WDFY3-AS2	TF binding region
ENSG00000163624	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879516	chr4:85877561-85895436	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3359788	chr4:85885953-85888501	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3386459	chr4:85886478-85888576	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85885400-85888400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:85885400-85888400	Active TSS	Fetal Kidney	kidney
3	chr4:85885400-85889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:85885800-85888400	Active TSS	Brain Anterior Caudate	brain
5	chr4:85885800-85888400	Active TSS	HMEC	breast
6	chr4:85885800-85888600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:85885800-85888600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:85885800-85888600	Active TSS	HSMM	muscle
9	chr4:85885800-85889000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:85885800-85889000	Active TSS	Fetal Brain Female	brain
11	chr4:85885800-85889000	Active TSS	Ovary	ovary
12	chr4:85885800-85889000	Active TSS	Psoas Muscle	Psoas
13	chr4:85886000-85888400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:85886000-85888400	Active TSS	Brain Germinal Matrix	brain
15	chr4:85886000-85888400	Active TSS	Fetal Intestine Large	intestine
16	chr4:85886000-85888600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr4:85886000-85888800	Active TSS	Brain Angular Gyrus	brain
18	chr4:85886000-85889000	Active TSS	Aorta	Aorta
19	chr4:85886000-85889000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:85886000-85889000	Active TSS	HSMMtube	muscle
21	chr4:85886000-85889000	Active TSS	NHLF	lung
22	chr4:85886000-85889200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:85886200-85887000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:85886200-85887000	Flanking Active TSS	Liver	Liver
25	chr4:85886200-85887000	Active TSS	Right Atrium	heart
26	chr4:85886200-85888400	Active TSS	Fetal Muscle Leg	muscle
27	chr4:85886200-85888600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr4:85886200-85888600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr4:85886200-85888600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:85886200-85888800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:85886200-85889000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:85886200-85889000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr4:85886200-85889000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:85886200-85889000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:85886200-85889000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:85886200-85889000	Active TSS	Brain Cingulate Gyrus	brain
37	chr4:85886200-85889000	Active TSS	Brain Substantia Nigra	brain
38	chr4:85886200-85889000	Active TSS	Right Ventricle	heart
39	chr4:85886200-85889200	Active TSS	NHDF-Ad	bronchial
40	chr4:85886400-85887000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:85886400-85887000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr4:85886400-85887000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:85886400-85887000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr4:85886400-85887000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr4:85886400-85887000	Active TSS	Fetal Brain Male	brain
46	chr4:85886400-85887000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr4:85886400-85887200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:85886400-85887600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr4:85886400-85888000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr4:85886400-85888400	Active TSS	Stomach Mucosa	stomach

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