Variant report

Variant	rs67624868
Chromosome Location	chr4:85886768-85886769
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	POLR2A	chr4:85886540-85888510	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr4:85886280-85888842	HEK293-T-REx	kidney:	n/a	chr4:85887026-85887035 chr4:85887861-85887882 chr4:85887800-85887821
3	CTBP2	chr4:85886711-85888497	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:85886602-85887475	H1-neurons	neurons:	n/a	n/a
5	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
6	POLR2A	chr4:85886703-85888841	Hela-S3	cervix:	n/a	n/a
7	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
8	UBTF	chr4:85886714-85888559	K562	blood:	n/a	n/a
9	REST	chr4:85886396-85888647	H1-neurons	neurons:	n/a	chr4:85887199-85887208 chr4:85887187-85887200
10	POLR2A	chr4:85886737-85888499	Gliobla	brain:	n/a	n/a
11	MXI1	chr4:85886355-85888955	IMR90	lung:	n/a	n/a
12	RAD21	chr4:85886620-85887344	SK-N-SH_RA	brain:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
13	POLR2A	chr4:85886514-85886895	MCF-7	breast:	n/a	n/a
14	ZBTB7A	chr4:85886662-85887456	ECC-1	luminal epithelium:	n/a	n/a
15	MAZ	chr4:85886331-85889284	IMR90	lung:	n/a	chr4:85887375-85887385 chr4:85888941-85888951 chr4:85886939-85886949
16	ARID3A	chr4:85886734-85886855	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:85886705-85888638	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:85886656-85887506	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr4:85886671-85886898	HepG2	liver:	n/a	n/a
20	ZBTB7A	chr4:85886654-85887513	ECC-1	luminal epithelium:	n/a	chr4:85887455-85887462
21	RAD21	chr4:85886604-85887357	IMR90	lung:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
22	TAF1	chr4:85886630-85887176	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr4:85886597-85886846	SK-N-SH	brain:	n/a	n/a
24	SIN3AK20	chr4:85886735-85888125	PANC-1	pancreas:	n/a	n/a
25	YY1	chr4:85886608-85887036	H1-hESC	embryonic stem cell:	n/a	chr4:85886936-85886950
26	SMC3	chr4:85886636-85886908	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr4:85886653-85887507	H1-hESC	embryonic stem cell:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
28	HMGN3	chr4:85886718-85888096	K562	blood:	n/a	n/a
29	POLR2A	chr4:85886754-85888297	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:85886539-85888905	HUVEC	blood vessel:	n/a	n/a
31	RAD21	chr4:85886668-85886940	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3A	chr4:85886365-85888714	H1-hESC	embryonic stem cell:	n/a	chr4:85886912-85886921 chr4:85887411-85887424
33	TAF1	chr4:85886603-85887059	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr4:85886720-85886870	AG04449	skin:	n/a	n/a
35	CTCF	chr4:85886760-85886910	BE2_C	brain:	n/a	n/a
36	MXI1	chr4:85886706-85888189	HepG2	liver:	n/a	n/a
37	TAF1	chr4:85886676-85886927	SK-N-SH	brain:	n/a	n/a
38	YY1	chr4:85886662-85888021	H1-hESC	embryonic stem cell:	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
39	RCOR1	chr4:85886639-85887336	K562	blood:	n/a	n/a
40	TBP	chr4:85886648-85888356	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:85886667-85888823	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr4:85886719-85887205	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr4:85886756-85888481	MCF-7	breast:	n/a	n/a
44	RAD21	chr4:85886759-85887279	H1-hESC	embryonic stem cell:	n/a	chr4:85887117-85887130 chr4:85887119-85887129
45	POLR2A	chr4:85886651-85887470	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr4:85886387-85887319	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr4:85886750-85887352	Hela-S3	cervix:	n/a	chr4:85886939-85886949
48	BACH1	chr4:85886751-85887443	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr4:85886620-85886770	SK-N-SH_RA	brain:	n/a	n/a
50	E2F4	chr4:85886614-85886800	MCF10A-Er-Src	breast:	n/a	n/a

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: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11097028	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12500519	0.87[EUR][1000 genomes]
rs12501525	0.87[AMR][1000 genomes]
rs12502559	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12503215	0.81[EUR][1000 genomes]
rs12503330	0.88[EUR][1000 genomes]
rs12506456	0.80[EUR][1000 genomes]
rs12510410	0.82[EUR][1000 genomes]
rs13118671	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13125323	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13139541	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13141072	0.88[EUR][1000 genomes]
rs1484661	0.86[AMR][1000 genomes]
rs1508670	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17009317	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17009334	0.89[EUR][1000 genomes]
rs35190829	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35892581	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4376130	0.82[EUR][1000 genomes]
rs4383611	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4590017	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4624645	0.82[EUR][1000 genomes]
rs55871210	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55912355	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56094216	0.91[EUR][1000 genomes]
rs58074983	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6531777	0.81[EUR][1000 genomes]
rs6531783	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66965560	0.86[EUR][1000 genomes]
rs6815917	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6820517	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829807	0.81[EUR][1000 genomes]
rs6847564	0.81[EUR][1000 genomes]
rs6847811	0.82[EUR][1000 genomes]
rs71631375	0.91[EUR][1000 genomes]
rs72664928	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72664957	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7654035	0.81[EUR][1000 genomes]
rs7661609	0.82[EUR][1000 genomes]
rs7682896	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7690054	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7692223	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7694949	0.82[EUR][1000 genomes]
rs7695054	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7699226	0.82[EUR][1000 genomes]
rs9684737	0.81[EUR][1000 genomes]

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	chr4:85885200-85886800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:85885400-85886800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:85885400-85886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:85885400-85888400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:85885400-85888400	Active TSS	Fetal Kidney	kidney
6	chr4:85885400-85889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:85885600-85886800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr4:85885800-85886800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:85885800-85886800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:85885800-85886800	Flanking Active TSS	NHEK	skin
11	chr4:85885800-85888400	Active TSS	Brain Anterior Caudate	brain
12	chr4:85885800-85888400	Active TSS	HMEC	breast
13	chr4:85885800-85888600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:85885800-85888600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:85885800-85888600	Active TSS	HSMM	muscle
16	chr4:85885800-85889000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:85885800-85889000	Active TSS	Fetal Brain Female	brain
18	chr4:85885800-85889000	Active TSS	Ovary	ovary
19	chr4:85885800-85889000	Active TSS	Psoas Muscle	Psoas
20	chr4:85886000-85886800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:85886000-85888400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:85886000-85888400	Active TSS	Brain Germinal Matrix	brain
23	chr4:85886000-85888400	Active TSS	Fetal Intestine Large	intestine
24	chr4:85886000-85888600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:85886000-85888800	Active TSS	Brain Angular Gyrus	brain
26	chr4:85886000-85889000	Active TSS	Aorta	Aorta
27	chr4:85886000-85889000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:85886000-85889000	Active TSS	HSMMtube	muscle
29	chr4:85886000-85889000	Active TSS	NHLF	lung
30	chr4:85886000-85889200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:85886200-85886800	Flanking Active TSS	Fetal Heart	heart
32	chr4:85886200-85886800	Flanking Active TSS	Fetal Lung	lung
33	chr4:85886200-85886800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:85886200-85886800	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr4:85886200-85886800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr4:85886200-85886800	Flanking Active TSS	NH-A	brain
37	chr4:85886200-85886800	Flanking Active TSS	Osteobl	bone
38	chr4:85886200-85887000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr4:85886200-85887000	Flanking Active TSS	Liver	Liver
40	chr4:85886200-85887000	Active TSS	Right Atrium	heart
41	chr4:85886200-85888400	Active TSS	Fetal Muscle Leg	muscle
42	chr4:85886200-85888600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:85886200-85888600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr4:85886200-85888600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:85886200-85888800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:85886200-85889000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:85886200-85889000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:85886200-85889000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:85886200-85889000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr4:85886200-85889000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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