Variant report

Variant	rs17023030
Chromosome Location	chr1:214640925-214640926
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

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	MAFK	chr1:214640636-214640952	Hela-S3	cervix:	n/a	n/a
6	SP1	chr1:214640048-214641037	A549	lung:	n/a	n/a
7	EP300	chr1:214640542-214640969	MCF-7	breast:	n/a	n/a
8	RAD21	chr1:214640566-214640964	ECC-1	luminal epithelium:	n/a	n/a
9	FOXA2	chr1:214640455-214641013	A549	lung:	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	STAT3	chr1:214640595-214641532	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr1:214639982-214640997	A549	lung:	n/a	n/a
15	TEAD4	chr1:214640527-214640926	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr1:214639965-214640998	T-47D	breast:	n/a	n/a
17	FOXA2	chr1:214640532-214641060	A549	lung:	n/a	n/a
18	RFX5	chr1:214639788-214640962	Hela-S3	cervix:	n/a	n/a
19	FOXA1	chr1:214640008-214640961	T-47D	breast:	n/a	n/a
20	EP300	chr1:214639993-214641012	A549	lung:	n/a	n/a
21	SP1	chr1:214640408-214641073	A549	lung:	n/a	n/a
22	POLR2A	chr1:214639824-214641104	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214640599..214643546-chr1:214723223..214725021,2	MCF-7	breast:
2	chr1:214640762..214643039-chr1:214644769..214647114,2	MCF-7	breast:

No data

Variant related genes	Relation type
PTPN14	TF binding region
ENSG00000152104	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10157143	1.00[YRI][hapmap]
rs10158378	1.00[YRI][hapmap]
rs10158490	1.00[YRI][hapmap]
rs10159086	1.00[YRI][hapmap]
rs10159464	1.00[YRI][hapmap]
rs10494980	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10746445	0.90[CHB][hapmap]
rs10864101	0.81[CEU][hapmap];0.92[CHB][hapmap]
rs10864102	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap]
rs10864103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11120329	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs11120330	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs12068677	0.81[CEU][hapmap];0.92[CHB][hapmap];0.81[YRI][hapmap]
rs12096551	0.88[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap]
rs12128034	0.84[CEU][hapmap];0.91[CHB][hapmap];0.81[YRI][hapmap]
rs12739305	0.80[YRI][hapmap]
rs12743237	0.84[CEU][hapmap];0.92[CHB][hapmap];0.90[YRI][hapmap]
rs17790515	1.00[YRI][hapmap]
rs17790562	1.00[YRI][hapmap]
rs4233302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4233304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4233305	0.92[CHB][hapmap]
rs4233306	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4233307	0.83[CHB][hapmap]
rs4269744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4284238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4474219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4539105	0.83[CHB][hapmap]
rs4571940	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4655250	0.81[CEU][hapmap];0.92[CHB][hapmap];0.81[YRI][hapmap]
rs4655251	0.91[CEU][hapmap];0.92[CHB][hapmap];0.81[YRI][hapmap]
rs4655252	0.81[CEU][hapmap];0.92[CHB][hapmap];0.90[YRI][hapmap]
rs4655253	0.84[CEU][hapmap];0.92[CHB][hapmap];0.81[YRI][hapmap]
rs4655254	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[YRI][hapmap]
rs4655255	0.81[CEU][hapmap];0.92[CHB][hapmap]
rs4655259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4655347	0.81[CEU][hapmap];0.92[CHB][hapmap];0.81[YRI][hapmap]
rs4655350	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4655351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4655352	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5020616	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs5020617	0.91[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap]
rs6540830	1.00[CEU][hapmap]
rs6540835	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap]
rs6540836	0.91[CHB][hapmap]
rs6540838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6540839	0.83[CHB][hapmap]
rs6668440	0.91[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap]
rs6676807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs6682627	1.00[CEU][hapmap]
rs6682847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6682987	0.83[CHB][hapmap]
rs6684018	0.85[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs6685434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs6689084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7518513	0.90[CHB][hapmap]
rs7525020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7531610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs7537274	0.83[CHB][hapmap]
rs7540188	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7555415	0.83[CHB][hapmap]

No data

Chromatin state (count:70 , 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	chr1:214629200-214644800	Weak transcription	Psoas Muscle	Psoas
4	chr1:214634400-214644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:214634400-214645000	Weak transcription	HUVEC	blood vessel
6	chr1:214634400-214646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:214635800-214645000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:214637200-214645000	Weak transcription	Esophagus	oesophagus
9	chr1:214637400-214641400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:214638200-214642200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:214638200-214644400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:214638200-214644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:214638200-214645400	Weak transcription	Left Ventricle	heart
14	chr1:214638200-214645600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:214638200-214645800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:214638200-214647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:214638200-214649200	Weak transcription	Aorta	Aorta
18	chr1:214638400-214644600	Weak transcription	HSMM	muscle
19	chr1:214638400-214649000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:214638400-214649400	Weak transcription	Right Ventricle	heart
21	chr1:214638600-214646800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:214638800-214642800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:214639400-214642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:214639600-214641000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:214639600-214641200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:214639600-214641400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:214639600-214641400	Enhancers	Colon Smooth Muscle	Colon
28	chr1:214639600-214642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:214639800-214641200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:214639800-214641200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:214639800-214641400	Enhancers	HMEC	breast
32	chr1:214639800-214643000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:214640000-214641000	Enhancers	Osteobl	bone
34	chr1:214640200-214642200	Weak transcription	Fetal Heart	heart
35	chr1:214640200-214644800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:214640200-214646600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:214640200-214647400	Weak transcription	Fetal Kidney	kidney
38	chr1:214640200-214649400	Weak transcription	Placenta	Placenta
39	chr1:214640200-214650000	Weak transcription	Fetal Lung	lung
40	chr1:214640400-214641400	Enhancers	Hela-S3	cervix
41	chr1:214640400-214642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:214640400-214643200	Weak transcription	Small Intestine	intestine
43	chr1:214640400-214644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:214640400-214644800	Weak transcription	Stomach Mucosa	stomach
45	chr1:214640400-214645000	Weak transcription	Adipose Nuclei	Adipose
46	chr1:214640400-214649400	Weak transcription	Pancreas	Pancrea
47	chr1:214640600-214641000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:214640600-214641000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:214640800-214641200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:214640800-214641600	Enhancers	A549	lung

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