Variant report

Variant	rs6684018
Chromosome Location	chr1:214640530-214640531
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	GATA3	chr1:214640006-214641007	MCF-7	breast:	n/a	n/a
2	GATA3	chr1:214639779-214640943	T-47D	breast:	n/a	n/a
3	GATA3	chr1:214639772-214641154	MCF-7	breast:	n/a	n/a
4	GATA3	chr1:214639802-214640958	T-47D	breast:	n/a	n/a
5	SP1	chr1:214640048-214641037	A549	lung:	n/a	n/a
6	TCF7L2	chr1:214639887-214640843	Hela-S3	cervix:	n/a	n/a
7	NR2F2	chr1:214640139-214640651	MCF-7	breast:	n/a	n/a
8	FOXA2	chr1:214640455-214641013	A549	lung:	n/a	n/a
9	MXI1	chr1:214639955-214640830	Hela-S3	cervix:	n/a	n/a
10	EP300	chr1:214640049-214640983	A549	lung:	n/a	n/a
11	JUND	chr1:214639989-214641085	T-47D	breast:	n/a	chr1:214640236-214640243
12	FOXM1	chr1:214639952-214641116	MCF-7	breast:	n/a	n/a
13	MAX	chr1:214640084-214640893	Hela-S3	cervix:	n/a	n/a
14	FOS	chr1:214640155-214640847	MCF10A-Er-Src	breast:	n/a	chr1:214640236-214640243
15	TCF12	chr1:214639982-214640997	A549	lung:	n/a	n/a
16	TEAD4	chr1:214640527-214640926	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr1:214639965-214640998	T-47D	breast:	n/a	n/a
18	MYC	chr1:214640063-214640907	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr1:214640065-214640910	MCF10A-Er-Src	breast:	n/a	n/a
20	ESR1	chr1:214640167-214640916	T-47D	breast:	n/a	n/a
21	JUND	chr1:214640052-214640883	T-47D	breast:	n/a	chr1:214640236-214640243
22	FOXA1	chr1:214640001-214640876	T-47D	breast:	n/a	n/a
23	FOS	chr1:214640147-214640856	MCF10A-Er-Src	breast:	n/a	chr1:214640236-214640243
24	MYC	chr1:214639845-214640879	Hela-S3	cervix:	n/a	n/a
25	TCF7L2	chr1:214640145-214640809	PANC-1	pancreas:	n/a	n/a
26	RFX5	chr1:214639788-214640962	Hela-S3	cervix:	n/a	n/a
27	EP300	chr1:214640026-214640901	T-47D	breast:	n/a	n/a
28	FOXA1	chr1:214640008-214640961	T-47D	breast:	n/a	n/a
29	EP300	chr1:214639993-214641012	A549	lung:	n/a	n/a
30	SP1	chr1:214640408-214641073	A549	lung:	n/a	n/a
31	POLR2A	chr1:214639824-214641104	MCF10A-Er-Src	breast:	n/a	n/a
32	NR2F2	chr1:214639991-214640868	MCF-7	breast:	n/a	n/a
33	TFAP2C	chr1:214640041-214640821	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PTPN14	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10157143	1.00[YRI][hapmap]
rs10158378	0.92[YRI][hapmap]
rs10158490	1.00[YRI][hapmap]
rs10159086	1.00[YRI][hapmap]
rs10159464	1.00[YRI][hapmap]
rs10494980	0.88[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.88[ASN][1000 genomes]
rs10864100	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10864101	1.00[ASW][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864102	1.00[ASW][hapmap];0.91[CHD][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864103	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120329	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120330	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120331	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120332	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120333	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12068677	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128034	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12739305	0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12739336	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12743237	0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12757384	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12757776	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17023030	0.85[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs17790515	1.00[YRI][hapmap]
rs17790562	1.00[YRI][hapmap]
rs4145623	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233301	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233302	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233303	0.88[ASN][1000 genomes]
rs4233304	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233306	0.88[CEU][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4269744	0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4284238	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4474219	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4480328	0.88[ASN][1000 genomes]
rs4571940	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHD][hapmap];0.97[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4655250	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655251	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655252	0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655253	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655254	0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655255	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655256	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655258	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655259	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655347	0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655348	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655349	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655350	1.00[ASW][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.93[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4655351	0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4655352	0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4655355	0.85[ASN][1000 genomes]
rs5020616	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5020617	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6540830	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6540835	0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6540838	0.87[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6540841	0.88[ASN][1000 genomes]
rs6661786	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6668440	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6676807	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6676956	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6682627	0.88[CEU][hapmap]
rs6682847	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6685434	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689084	0.88[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6691633	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7518513	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7525020	0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7527320	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528315	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7531610	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540188	1.00[ASW][hapmap];0.82[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7540288	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214613000-214649400	Weak transcription	Lung	lung
2	chr1:214625800-214644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:214628600-214640600	Weak transcription	Right Atrium	heart
4	chr1:214629200-214644800	Weak transcription	Psoas Muscle	Psoas
5	chr1:214634400-214644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:214634400-214645000	Weak transcription	HUVEC	blood vessel
7	chr1:214634400-214646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:214635800-214645000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:214636200-214640600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:214637200-214645000	Weak transcription	Esophagus	oesophagus
11	chr1:214637400-214641400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:214637800-214640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:214638200-214642200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:214638200-214644400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:214638200-214644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:214638200-214645400	Weak transcription	Left Ventricle	heart
17	chr1:214638200-214645600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:214638200-214645800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:214638200-214647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:214638200-214649200	Weak transcription	Aorta	Aorta
21	chr1:214638400-214644600	Weak transcription	HSMM	muscle
22	chr1:214638400-214649000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:214638400-214649400	Weak transcription	Right Ventricle	heart
24	chr1:214638600-214646800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:214638800-214642800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:214639400-214642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:214639600-214640800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:214639600-214641000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:214639600-214641200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:214639600-214641400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:214639600-214641400	Enhancers	Colon Smooth Muscle	Colon
32	chr1:214639600-214642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:214639800-214640600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:214639800-214640800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:214639800-214640800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:214639800-214640800	Enhancers	Fetal Intestine Small	intestine
37	chr1:214639800-214640800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:214639800-214640800	Enhancers	Ovary	ovary
39	chr1:214639800-214640800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:214639800-214640800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:214639800-214640800	Enhancers	HSMMtube	muscle
42	chr1:214639800-214640800	Enhancers	NH-A	brain
43	chr1:214639800-214641200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:214639800-214641200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:214639800-214641400	Enhancers	HMEC	breast
46	chr1:214639800-214643000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:214640000-214640800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr1:214640000-214640800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:214640000-214640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:214640000-214640800	Enhancers	Fetal Stomach	stomach

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