Variant report

Variant	rs6679630
Chromosome Location	chr1:93811364-93811365
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:244)
Chromatin interactive
region (count:14)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:93810749-93812158	U87	brain:	n/a	n/a
2	POLR2A	chr1:93810726-93811868	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr1:93810970-93811618	HepG2	liver:	n/a	n/a
4	MAX	chr1:93810977-93811683	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:93810815-93811738	HCT-116	colon:	n/a	n/a
6	GABPA	chr1:93810882-93811930	HL-60	blood:	n/a	n/a
7	CTBP2	chr1:93811228-93812033	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr1:93811033-93811552	MCF10A-Er-Src	breast:	n/a	n/a
9	NFIC	chr1:93810897-93811679	HepG2	liver:	n/a	n/a
10	MEF2A	chr1:93811129-93811640	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:93810588-93812588	GM18526	blood:	n/a	n/a
12	USF1	chr1:93811155-93811572	SK-N-SH	brain:	n/a	n/a
13	CREB1	chr1:93811027-93812050	GM12878	blood:	n/a	n/a
14	EP300	chr1:93810894-93811985	ECC-1	luminal epithelium:	n/a	n/a
15	SIX5	chr1:93811218-93811522	K562	blood:	n/a	n/a
16	MBD4	chr1:93811061-93811670	HepG2	liver:	n/a	n/a
17	EGR1	chr1:93811150-93811625	H1-hESC	embryonic stem cell:	n/a	chr1:93811376-93811390
18	RCOR1	chr1:93810855-93811650	HepG2	liver:	n/a	n/a
19	CHD1	chr1:93810640-93811606	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:93811103-93811709	A549	lung:	n/a	n/a
21	RCOR1	chr1:93811013-93812391	GM12878	blood:	n/a	n/a
22	PML	chr1:93810506-93812401	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:93810640-93812008	K562	blood:	n/a	n/a
24	E2F4	chr1:93811208-93811920	K562	blood:	n/a	n/a
25	TAF1	chr1:93811128-93811592	Hela-S3	cervix:	n/a	n/a
26	RELA	chr1:93811146-93812520	GM10847	blood:	n/a	n/a
27	TAF1	chr1:93810786-93811924	H1-neurons	neurons:	n/a	n/a
28	NR3C1	chr1:93811080-93811614	A549	lung:	n/a	n/a
29	RAD21	chr1:93811164-93811591	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:93810936-93811922	Gliobla	brain:	n/a	n/a
31	POLR2A	chr1:93810591-93811713	MCF10A-Er-Src	breast:	n/a	n/a
32	PML	chr1:93810548-93811675	K562	blood:	n/a	n/a
33	TEAD4	chr1:93811113-93811655	H1-hESC	embryonic stem cell:	n/a	n/a
34	TBP	chr1:93810653-93811643	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr1:93811023-93811840	A549	lung:	n/a	n/a
36	POLR2A	chr1:93810547-93811784	IMR90	lung:	n/a	n/a
37	POLR2A	chr1:93811073-93811698	HepG2	liver:	n/a	n/a
38	MYC	chr1:93810973-93811598	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:93810607-93811820	ECC-1	luminal epithelium:	n/a	n/a
40	IRF1	chr1:93811119-93811676	K562	blood:	n/a	n/a
41	REST	chr1:93810999-93811710	PFSK-1	brain:	n/a	chr1:93811602-93811611 chr1:93811001-93811014
42	FOXM1	chr1:93810616-93812357	GM12878	blood:	n/a	n/a
43	TAF1	chr1:93811114-93811597	GM12892	blood:	n/a	n/a
44	KAP1	chr1:93810904-93811533	HEK293	kidney:	n/a	n/a
45	MXI1	chr1:93811087-93811607	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3A	chr1:93810785-93813024	H1-hESC	embryonic stem cell:	n/a	chr1:93811874-93811883
47	MAX	chr1:93811043-93811768	MCF-7	breast:	n/a	n/a
48	HCFC1	chr1:93810459-93813430	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:93810890-93812490	GM12878	blood:	n/a	n/a
50	EGR1	chr1:93811074-93811675	ECC-1	luminal epithelium:	n/a	chr1:93811376-93811390

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:93811340-93811390	PANC-1	pancreas:	n/a
2	chr1:93811356-93811406	ovcar-3	ovarian:	n/a
3	chr1:93811356-93811406	GM12892	blood:	n/a
4	chr1:93811340-93811390	NH-A	brain:	n/a
5	chr1:93811362-93811412	ovcar-3	ovarian:	n/a
6	chr1:93811362-93811412	NH-A	brain:	n/a
7	chr1:93811362-93811412	HUVEC	blood vessel:	n/a
8	chr1:93811356-93811406	SKMC	muscle:	n/a
9	chr1:93811362-93811412	AG09319	gingival:	n/a
10	chr1:93811362-93811412	SAEC	small airway:	n/a
11	chr1:93811331-93811381	AG09319	gingival:	n/a
12	chr1:93811340-93811390	T-47D	breast:	n/a
13	chr1:93811356-93811406	HCF	heart:	n/a
14	chr1:93811356-93811406	AoSMC	blood vessel:	n/a
15	chr1:93811331-93811381	HRCEpiC	kidney:	n/a
16	chr1:93811362-93811412	HEEpiC	esophagus:	n/a
17	chr1:93811340-93811390	ProgFib	skin:	n/a
18	chr1:93811331-93811381	HCM	heart:	n/a
19	chr1:93811362-93811412	HCF	heart:	n/a
20	chr1:93811362-93811412	CMK	blood:	n/a
21	chr1:93811356-93811406	NHBE	bronchial:	n/a
22	chr1:93811362-93811412	SKMC	muscle:	n/a
23	chr1:93811331-93811381	AG09309	skin:	n/a
24	chr1:93811331-93811381	NH-A	brain:	n/a
25	chr1:93811362-93811412	AG10803	skin:	n/a
26	chr1:93811362-93811412	NB4	blood:	n/a
27	chr1:93811356-93811406	A549	lung:	n/a
28	chr1:93811340-93811390	SAEC	small airway:	n/a
29	chr1:93811356-93811406	GM19239	blood:	n/a
30	chr1:93811340-93811390	SK-N-SH_RA	brain:	n/a
31	chr1:93811340-93811390	HRE	kidney:	n/a
32	chr1:93811340-93811390	SK-N-MC	brain:	n/a
33	chr1:93811331-93811381	SAEC	small airway:	n/a
34	chr1:93811331-93811381	AG04449	skin:	fetal
35	chr1:93811331-93811381	PANC-1	pancreas:	n/a
36	chr1:93811331-93811381	HAEpiC	amniotic membrane:	n/a
37	chr1:93811331-93811381	HRE	kidney:	n/a
38	chr1:93811340-93811390	HCPEpiC	choroid plexus:	n/a
39	chr1:93811331-93811381	Hela-S3	cervix:	n/a
40	chr1:93811340-93811390	PrEC	prostate:	n/a
41	chr1:93811331-93811381	NT2-D1	testis:	n/a
42	chr1:93811331-93811381	HEK293	kidney:	embryo
43	chr1:93811356-93811406	Hepatocyte	liver:	n/a
44	chr1:93811362-93811412	HCM	heart:	n/a
45	chr1:93811331-93811381	HEEpiC	esophagus:	n/a
46	chr1:93811331-93811381	AG10803	skin:	n/a
47	chr1:93811362-93811412	MCF-7	breast:	n/a
48	chr1:93811331-93811381	BE2_C	brain:	n/a
49	chr1:93811356-93811406	HUVEC	blood vessel:	n/a
50	chr1:93811331-93811381	PFSK-1	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93645217..93647483-chr1:93810016..93813905,4	K562	blood:
2	chr1:93811030..93811616-chr12:50135086..50136018,2	Hela-S3	cervix:
3	chr1:93809720..93812337-chr1:93819779..93821758,3	MCF-7	breast:
4	chr1:93797417..93800568-chr1:93809783..93813173,3	K562	blood:
5	chr1:87379116..87379783-chr1:93811022..93811864,2	Hela-S3	cervix:
6	chr1:93809215..93811545-chr1:94343496..94345279,2	K562	blood:
7	chr1:93811133..93814005-chr1:93913050..93915053,2	MCF-7	breast:
8	chr1:93788744..93790531-chr1:93809891..93812646,2	MCF-7	breast:
9	chr1:93810468..93811460-chr16:18812545..18813119,2	Hela-S3	cervix:
10	chr1:93810888..93811522-chr12:52444546..52445237,2	Hela-S3	cervix:
11	chr1:93789215..93790995-chr1:93809839..93812682,2	K562	blood:
12	chr1:93810767..93811569-chr1:172500955..172501794,2	Hela-S3	cervix:
13	chr1:93810768..93811505-chr19:47353885..47354425,2	NB4	blood:
14	chr1:93802856..93806356-chr1:93809825..93812242,3	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMED5-1	chr1:93811281-93811403	XLOC_000918
2	lnc-TMED5-1	chr1:93811281-93811405	XLOC_000918
3	lnc-TMED5-1	chr1:93811281-93811368	XLOC_000918
4	lnc-TMED5-1	chr1:93811281-93811384	XLOC_000918
5	lnc-TMED5-1	chr1:93811281-93811368	ENSG00000223745.1
6	lnc-TMED5-1	chr1:93811281-93811582	ENSG00000223745.1
7	lnc-TMED5-1	chr1:93811281-93811388	ENSG00000223745.1
8	lnc-TMED5-1	chr1:93811281-93811477	NONHSAT004520
9	lnc-TMED5-1	chr1:93811281-93811582	ENSG00000223745.3

No data

Variant related genes	Relation type
DR1	TF binding region
ENSG00000223745	TF binding region
ENSG00000223745	CpG island
DR1	CpG island
ENSG00000122483	Chromatin interaction
ENSG00000183291	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000042753	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000117500	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000094975	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10489733	1.00[ASN][1000 genomes]
rs11799543	1.00[ASN][1000 genomes]
rs11799928	1.00[ASN][1000 genomes]
rs11800760	1.00[ASN][1000 genomes]
rs11801175	1.00[ASN][1000 genomes]
rs11801563	1.00[ASN][1000 genomes]
rs11802420	1.00[ASN][1000 genomes]
rs11802421	1.00[ASN][1000 genomes]
rs11802822	0.82[ASN][1000 genomes]
rs11808445	0.82[ASN][1000 genomes]
rs12239183	1.00[ASN][1000 genomes]
rs28829343	1.00[ASN][1000 genomes]
rs41528947	1.00[ASN][1000 genomes]
rs55734759	1.00[ASN][1000 genomes]
rs55738503	0.82[ASN][1000 genomes]
rs55741554	0.82[ASN][1000 genomes]
rs56281837	1.00[ASN][1000 genomes]
rs56401576	1.00[ASN][1000 genomes]
rs56657492	0.82[ASN][1000 genomes]
rs58505360	1.00[ASN][1000 genomes]
rs58807475	0.82[ASN][1000 genomes]
rs59368083	0.82[ASN][1000 genomes]
rs59609847	0.82[ASN][1000 genomes]
rs59774396	0.82[ASN][1000 genomes]
rs60079850	0.82[ASN][1000 genomes]
rs61252284	0.82[ASN][1000 genomes]
rs61335636	0.82[ASN][1000 genomes]
rs61671588	1.00[ASN][1000 genomes]
rs61729705	1.00[ASN][1000 genomes]
rs6541348	1.00[ASN][1000 genomes]
rs6541360	1.00[ASN][1000 genomes]
rs6541398	1.00[ASN][1000 genomes]
rs6667540	1.00[ASN][1000 genomes]
rs6671070	0.82[ASN][1000 genomes]
rs6677114	1.00[ASN][1000 genomes]
rs6679304	0.82[ASN][1000 genomes]
rs6695142	1.00[ASN][1000 genomes]
rs6701683	1.00[ASN][1000 genomes]
rs6704067	1.00[ASN][1000 genomes]
rs72957210	0.82[ASN][1000 genomes]
rs72957220	0.82[ASN][1000 genomes]
rs72957300	0.82[ASN][1000 genomes]
rs72959204	0.82[ASN][1000 genomes]
rs72959216	1.00[ASN][1000 genomes]
rs72959225	1.00[ASN][1000 genomes]
rs72959236	1.00[ASN][1000 genomes]
rs72959238	1.00[ASN][1000 genomes]
rs72959240	1.00[ASN][1000 genomes]
rs72959245	0.92[ASN][1000 genomes]
rs72959255	1.00[ASN][1000 genomes]
rs72959260	1.00[ASN][1000 genomes]
rs72959267	1.00[ASN][1000 genomes]
rs72959273	1.00[ASN][1000 genomes]
rs72961310	1.00[ASN][1000 genomes]
rs72961322	1.00[ASN][1000 genomes]
rs72961328	1.00[ASN][1000 genomes]
rs74101458	0.82[ASN][1000 genomes]
rs74101470	1.00[ASN][1000 genomes]
rs7512471	1.00[ASN][1000 genomes]
rs7518171	1.00[ASN][1000 genomes]
rs7518930	1.00[ASN][1000 genomes]
rs7527459	1.00[ASN][1000 genomes]
rs7529230	0.82[ASN][1000 genomes]
rs7533526	1.00[ASN][1000 genomes]
rs7537939	1.00[ASN][1000 genomes]
rs7540960	1.00[ASN][1000 genomes]
rs7544352	1.00[ASN][1000 genomes]
rs7545154	0.92[ASN][1000 genomes]
rs7545358	1.00[ASN][1000 genomes]
rs7548629	1.00[ASN][1000 genomes]
rs754899	1.00[ASN][1000 genomes]
rs8489	1.00[ASN][1000 genomes]
rs8561	1.00[ASN][1000 genomes]
rs9324347	0.82[ASN][1000 genomes]
rs9662414	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93809800-93817200	Active TSS	GM12878-XiMat	blood
2	chr1:93810000-93815400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:93810200-93811800	Active TSS	HepG2	liver
4	chr1:93810200-93814000	Active TSS	Hela-S3	cervix
5	chr1:93810200-93815600	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:93810400-93813600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:93810400-93813800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:93810400-93814200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:93810400-93814200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:93810400-93814200	Active TSS	Fetal Intestine Small	intestine
11	chr1:93810400-93814400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:93810400-93814800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:93810400-93814800	Active TSS	Osteobl	bone
14	chr1:93810400-93815000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:93810400-93815000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:93810400-93815000	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:93810400-93815000	Active TSS	A549	lung
18	chr1:93810400-93815200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:93810400-93815200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:93810400-93815200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:93810400-93815200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:93810400-93815200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:93810400-93815200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:93810400-93815200	Active TSS	K562	blood
25	chr1:93810400-93815200	Active TSS	NHLF	lung
26	chr1:93810400-93815400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:93810400-93815400	Active TSS	Fetal Intestine Large	intestine
28	chr1:93810400-93815400	Active TSS	HSMM	muscle
29	chr1:93810400-93815600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:93810400-93815600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:93810400-93815600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:93810400-93816200	Active TSS	HSMMtube	muscle
33	chr1:93810600-93812800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:93810600-93813000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:93810600-93813000	Active TSS	Esophagus	oesophagus
36	chr1:93810600-93813200	Active TSS	Colonic Mucosa	Colon
37	chr1:93810600-93813400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:93810600-93813400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:93810600-93813400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:93810600-93813400	Active TSS	Fetal Muscle Trunk	muscle
41	chr1:93810600-93813400	Active TSS	Left Ventricle	heart
42	chr1:93810600-93813400	Active TSS	Ovary	ovary
43	chr1:93810600-93813600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:93810600-93813800	Active TSS	Placenta Amnion	Placenta Amnion
45	chr1:93810600-93813800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:93810600-93814000	Active TSS	Brain Substantia Nigra	brain
47	chr1:93810600-93814200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:93810600-93814200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:93810600-93814200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:93810600-93814200	Active TSS	Psoas Muscle	Psoas

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