Variant report

Variant	rs10864100
Chromosome Location	chr1:214638172-214638173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:214637855-214638246	K562	blood:	n/a	n/a
2	REST	chr1:214637869-214638213	K562	blood:	n/a	n/a
3	MYC	chr1:214637832-214638224	K562	blood:	n/a	n/a
4	MAX	chr1:214637685-214638293	K562	blood:	n/a	n/a
5	CTCF	chr1:214638014-214638220	K562	blood:	n/a	n/a
6	CTCF	chr1:214637959-214638302	K562	blood:	n/a	n/a
7	E2F6	chr1:214637873-214638175	K562	blood:	n/a	chr1:214637942-214637951
8	CTCF	chr1:214637905-214638211	K562	blood:	n/a	n/a
9	BHLHE40	chr1:214638004-214638229	K562	blood:	n/a	n/a
10	MAZ	chr1:214637861-214638209	K562	blood:	n/a	n/a
11	MYC	chr1:214637889-214638232	K562	blood:	n/a	n/a
12	RCOR1	chr1:214637956-214638223	K562	blood:	n/a	n/a
13	UBTF	chr1:214637882-214638200	K562	blood:	n/a	n/a
14	CBX3	chr1:214637820-214638226	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214638168-214638218	GM12892	blood:	n/a
2	chr1:214638168-214638218	ovcar-3	ovarian:	n/a
3	chr1:214638168-214638218	SK-N-SH_RA	brain:	n/a
4	chr1:214638168-214638218	CMK	blood:	n/a
5	chr1:214638168-214638218	HCM	heart:	n/a
6	chr1:214638168-214638218	HNPCEpiC	eye:	n/a
7	chr1:214638168-214638218	HRE	kidney:	n/a
8	chr1:214638168-214638218	T-47D	breast:	n/a
9	chr1:214638168-214638218	Jurkat	blood:	n/a
10	chr1:214638168-214638218	SAEC	small airway:	n/a
11	chr1:214638168-214638218	HUVEC	blood vessel:	n/a
12	chr1:214638168-214638218	HRPEpiC	eye:	n/a
13	chr1:214638168-214638218	AoSMC	blood vessel:	n/a
14	chr1:214638168-214638218	SKMC	muscle:	n/a
15	chr1:214638168-214638218	HAEpiC	amniotic membrane:	n/a
16	chr1:214638168-214638218	HMEC	breast:	n/a
17	chr1:214638168-214638218	LNCaP	prostate:	n/a
18	chr1:214638168-214638218	H1-hESC	embryonic stem cell:	embryo
19	chr1:214638168-214638218	MCF-7	breast:	n/a
20	chr1:214638168-214638218	HL-60	blood:	n/a
21	chr1:214638168-214638218	Hepatocyte	liver:	n/a
22	chr1:214638168-214638218	HCF	heart:	n/a
23	chr1:214638168-214638218	HEEpiC	esophagus:	n/a
24	chr1:214638168-214638218	U87	brain:	n/a
25	chr1:214638168-214638218	RPTEC	kidney:	n/a
26	chr1:214638168-214638218	Caco-2	colon:	n/a
27	chr1:214638168-214638218	GM19239	blood:	n/a
28	chr1:214638168-214638218	AG10803	skin:	n/a
29	chr1:214638168-214638218	GM06990	blood:	n/a
30	chr1:214638168-214638218	AG09309	skin:	n/a
31	chr1:214638168-214638218	PFSK-1	brain:	n/a
32	chr1:214638168-214638218	BJ	skin:	n/a
33	chr1:214638168-214638218	BE2_C	brain:	n/a
34	chr1:214638168-214638218	AG04449	skin:	fetal
35	chr1:214638168-214638218	SK-N-MC	brain:	n/a
36	chr1:214638168-214638218	Hela-S3	cervix:	n/a
37	chr1:214638168-214638218	SK-N-SH	brain:	n/a
38	chr1:214638168-214638218	NHDF-neo	bronchial:	n/a
39	chr1:214638168-214638218	HCPEpiC	choroid plexus:	n/a
40	chr1:214638168-214638218	AG04450	lung:	fetal
41	chr1:214638168-214638218	A549	lung:	n/a
42	chr1:214638168-214638218	NB4	blood:	n/a
43	chr1:214638168-214638218	MCF10A-Er-Src	breast:	n/a
44	chr1:214638168-214638218	PANC-1	pancreas:	n/a
45	chr1:214638168-214638218	K562	blood:	n/a
46	chr1:214638168-214638218	GM12891	blood:	n/a
47	chr1:214638168-214638218	NH-A	brain:	n/a
48	chr1:214638168-214638218	HepG2	liver:	n/a
49	chr1:214638168-214638218	NT2-D1	testis:	n/a
50	chr1:214638168-214638218	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
PTPN14	TF binding region
PTPN14	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10494980	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10864101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864103	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120329	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120330	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120331	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120332	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120333	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12068677	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12128034	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12739305	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739336	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12743237	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12757384	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12757776	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145623	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233301	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233303	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4233304	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233306	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4269744	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4284238	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474219	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4480328	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4571940	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4655250	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655251	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655252	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655253	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655254	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655255	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655256	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655258	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655259	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655347	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655348	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655349	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655350	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655351	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655352	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655355	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5020616	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5020617	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540830	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6540835	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540838	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540841	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6661786	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6668440	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6676807	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6676956	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6682847	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6684018	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6685434	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6689084	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6691633	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7518513	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7525020	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7528315	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7531610	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7540188	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7540288	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	esv275028	chr1:214637808-214639253	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214613000-214649400	Weak transcription	Lung	lung
2	chr1:214621000-214639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:214625800-214644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:214627200-214640000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214628600-214640600	Weak transcription	Right Atrium	heart
6	chr1:214628800-214639400	Weak transcription	Stomach Mucosa	stomach
7	chr1:214629200-214644800	Weak transcription	Psoas Muscle	Psoas
8	chr1:214634000-214638600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:214634200-214640000	Weak transcription	Fetal Kidney	kidney
10	chr1:214634400-214639800	Weak transcription	Fetal Lung	lung
11	chr1:214634400-214639800	Weak transcription	A549	lung
12	chr1:214634400-214640000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:214634400-214644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:214634400-214645000	Weak transcription	HUVEC	blood vessel
15	chr1:214634400-214646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:214634800-214638200	Strong transcription	Fetal Intestine Large	intestine
17	chr1:214634800-214640000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:214635000-214638400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:214635000-214638600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:214635200-214638400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:214635800-214638200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:214635800-214645000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:214636000-214638600	Strong transcription	NHLF	lung
24	chr1:214636200-214640600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:214636400-214638200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:214636400-214638600	Enhancers	Fetal Heart	heart
27	chr1:214636800-214638200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:214636800-214638200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:214636800-214638200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:214636800-214638200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:214636800-214638200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:214636800-214638200	Strong transcription	Adipose Nuclei	Adipose
33	chr1:214636800-214638400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:214636800-214638400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:214636800-214638400	Genic enhancers	HSMM	muscle
36	chr1:214636800-214638600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:214636800-214638600	Genic enhancers	NHEK	skin
38	chr1:214637000-214638200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:214637000-214638200	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr1:214637000-214638200	Strong transcription	Fetal Intestine Small	intestine
41	chr1:214637000-214638400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:214637000-214638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:214637000-214639800	Weak transcription	NH-A	brain
44	chr1:214637000-214640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:214637200-214638200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:214637200-214638200	Strong transcription	Left Ventricle	heart
47	chr1:214637200-214639800	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:214637200-214640000	Weak transcription	NHDF-Ad	bronchial
49	chr1:214637200-214645000	Weak transcription	Esophagus	oesophagus
50	chr1:214637400-214638200	Enhancers	Fetal Brain Male	brain

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