Variant report

Variant	rs545772692
Chromosome Location	chr7:102715125-102715126
allele	G/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	chr7:102714753-102716576	K562	blood:	n/a	n/a
2	ELF1	chr7:102714837-102715722	A549	lung:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
3	NRF1	chr7:102715084-102715698	GM12878	blood:	n/a	chr7:102715307-102715316
4	CHD2	chr7:102714681-102715496	K562	blood:	n/a	n/a
5	E2F4	chr7:102714883-102715632	MCF10A-Er-Src	breast:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102715350-102715361
6	UBTF	chr7:102714741-102716398	K562	blood:	n/a	n/a
7	POLR2A	chr7:102714781-102716191	K562	blood:	n/a	n/a
8	GTF2F1	chr7:102715046-102716184	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr7:102714905-102715711	GM12878	blood:	n/a	chr7:102715341-102715357 chr7:102715416-102715425
10	MXI1	chr7:102714010-102717069	SK-N-SH	brain:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
11	MAX	chr7:102714737-102716411	HepG2	liver:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
12	STAT1	chr7:102714891-102715725	GM12878	blood:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
13	GABPA	chr7:102714472-102715760	SK-N-SH	brain:	n/a	chr7:102715307-102715316
14	PML	chr7:102714799-102715738	MCF-7	breast:	n/a	n/a
15	USF1	chr7:102715105-102715733	H1-hESC	embryonic stem cell:	n/a	chr7:102715272-102715288 chr7:102715606-102715617
16	MAX	chr7:102714872-102715754	HUVEC	blood vessel:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
17	POLR2A	chr7:102715107-102716312	GM19099	blood:	n/a	n/a
18	STAT5A	chr7:102714956-102715441	GM12878	blood:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
19	ZBTB7A	chr7:102715027-102715939	K562	blood:	n/a	n/a
20	MAX	chr7:102714600-102716292	ECC-1	luminal epithelium:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
21	FOXM1	chr7:102714940-102715414	GM12878	blood:	n/a	n/a
22	E2F6	chr7:102714860-102715733	K562	blood:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102715709-102715719
23	TAF1	chr7:102715102-102716259	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr7:102714952-102715637	GM12878	blood:	n/a	n/a
25	SMC3	chr7:102714874-102715649	K562	blood:	n/a	chr7:102715304-102715314
26	HMGN3	chr7:102714785-102715992	K562	blood:	n/a	n/a
27	TBP	chr7:102714821-102715730	GM12878	blood:	n/a	n/a
28	MYC	chr7:102714520-102716139	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
29	SIN3AK20	chr7:102714797-102715941	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr7:102714569-102716479	Hela-S3	cervix:	n/a	n/a
31	SP1	chr7:102714989-102715417	GM12878	blood:	n/a	chr7:102715081-102715093 chr7:102715306-102715317 chr7:102715081-102715093 chr7:102715308-102715317 chr7:102715307-102715316 chr7:102715317-102715327 chr7:102715303-102715317 chr7:102715348-102715359 chr7:102715306-102715318 chr7:102715308-102715317 chr7:102715016-102715030 chr7:102715307-102715317 chr7:102715306-102715318 chr7:102715307-102715317 chr7:102715303-102715316
32	SRF	chr7:102714680-102715715	MCF-7	breast:	n/a	n/a
33	MYC	chr7:102714794-102716046	Hela-S3	cervix:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
34	KAP1	chr7:102714666-102715144	U2OS	brain:	n/a	n/a
35	BACH1	chr7:102714954-102715637	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZC3H11A	chr7:102715108-102715642	K562	blood:	n/a	n/a
37	POLR2A	chr7:102714714-102716938	MCF10A-Er-Src	breast:	n/a	n/a
38	YY1	chr7:102714733-102715793	SK-N-SH_RA	brain:	n/a	chr7:102715307-102715316
39	IRF1	chr7:102714825-102715740	K562	blood:	n/a	chr7:102715306-102715320 chr7:102715566-102715580 chr7:102715323-102715337
40	MYC	chr7:102714559-102716336	A549	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
41	TCF7L2	chr7:102714604-102715776	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:102714846-102716176	GM18951	blood:	n/a	n/a
43	WRNIP1	chr7:102715074-102715372	GM12878	blood:	n/a	n/a
44	MYC	chr7:102714925-102715785	K562	blood:	n/a	chr7:102715433-102715442
45	MXI1	chr7:102714835-102715760	Hela-S3	cervix:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
46	STAT3	chr7:102714517-102715586	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
47	EGR1	chr7:102714627-102715766	MCF-7	breast:	n/a	chr7:102715307-102715317 chr7:102715527-102715538 chr7:102715332-102715342 chr7:102715532-102715539 chr7:102715454-102715464 chr7:102715525-102715540
48	SP1	chr7:102715017-102715582	HepG2	liver:	n/a	chr7:102715081-102715093 chr7:102715485-102715497 chr7:102715306-102715317 chr7:102715081-102715093 chr7:102715566-102715578 chr7:102715308-102715317 chr7:102715307-102715316 chr7:102715317-102715327 chr7:102715303-102715317 chr7:102715486-102715495 chr7:102715348-102715359 chr7:102715306-102715318 chr7:102715308-102715317 chr7:102715307-102715317 chr7:102715306-102715318 chr7:102715307-102715317 chr7:102715303-102715316
49	TAF1	chr7:102715095-102716103	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:102714725-102715413	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102715121-102715171	GM19239	blood:	n/a
2	chr7:102715121-102715171	GM12891	blood:	n/a
3	chr7:102715121-102715171	K562	blood:	n/a
4	chr7:102715121-102715171	SK-N-MC	brain:	n/a
5	chr7:102715121-102715171	NHBE	bronchial:	n/a
6	chr7:102715121-102715171	Jurkat	blood:	n/a
7	chr7:102715121-102715171	Hela-S3	cervix:	n/a
8	chr7:102715121-102715171	HAEpiC	amniotic membrane:	n/a
9	chr7:102715121-102715171	A549	lung:	n/a
10	chr7:102715121-102715171	ovcar-3	ovarian:	n/a
11	chr7:102715121-102715171	IMR90	lung:	fetal
12	chr7:102715121-102715171	H1-hESC	embryonic stem cell:	embryo
13	chr7:102715121-102715171	T-47D	breast:	n/a
14	chr7:102715121-102715171	HCM	heart:	n/a
15	chr7:102715121-102715171	SKMC	muscle:	n/a
16	chr7:102715121-102715171	HNPCEpiC	eye:	n/a
17	chr7:102715121-102715171	NT2-D1	testis:	n/a
18	chr7:102715121-102715171	NHDF-neo	bronchial:	n/a
19	chr7:102715121-102715171	HL-60	blood:	n/a
20	chr7:102715121-102715171	NH-A	brain:	n/a
21	chr7:102715121-102715171	AoSMC	blood vessel:	n/a
22	chr7:102715121-102715171	GM06990	blood:	n/a
23	chr7:102715121-102715171	Hepatocyte	liver:	n/a
24	chr7:102715121-102715171	PANC-1	pancreas:	n/a
25	chr7:102715121-102715171	AG10803	skin:	n/a
26	chr7:102715121-102715171	BJ	skin:	n/a
27	chr7:102715121-102715171	HRCEpiC	kidney:	n/a
28	chr7:102715121-102715171	HIPEpiC	eye:	n/a
29	chr7:102715121-102715171	AG09319	gingival:	n/a
30	chr7:102715121-102715171	ECC-1	luminal epithelium:	n/a
31	chr7:102715121-102715171	AG04450	lung:	fetal
32	chr7:102715121-102715171	HRPEpiC	eye:	n/a
33	chr7:102715121-102715171	Caco-2	colon:	n/a
34	chr7:102715121-102715171	SK-N-SH	brain:	n/a
35	chr7:102715121-102715171	AG04449	skin:	fetal
36	chr7:102715121-102715171	HEEpiC	esophagus:	n/a
37	chr7:102715121-102715171	SAEC	small airway:	n/a
38	chr7:102715121-102715171	HCF	heart:	n/a
39	chr7:102715121-102715171	ProgFib	skin:	n/a
40	chr7:102715121-102715171	HUVEC	blood vessel:	n/a
41	chr7:102715121-102715171	PrEC	prostate:	n/a
42	chr7:102715121-102715171	GM12878	blood:	n/a
43	chr7:102715121-102715171	PFSK-1	brain:	n/a
44	chr7:102715121-102715171	HepG2	liver:	n/a
45	chr7:102715121-102715171	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:102715121-102715171	GM12892	blood:	n/a
47	chr7:102715121-102715171	MCF-7	breast:	n/a
48	chr7:102715121-102715171	MCF10A-Er-Src	breast:	n/a
49	chr7:102715121-102715171	LNCaP	prostate:	n/a
50	chr7:102715121-102715171	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102714716..102718005-chr7:102734624..102737524,3	MCF-7	breast:
2	chr7:102714725..102717201-chr7:102788241..102791780,5	K562	blood:
3	chr6:26154807..26157784-chr7:102714627..102716921,2	MCF-7	breast:
4	chr7:102714740..102716868-chr7:102950642..102953182,2	MCF-7	breast:
5	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
6	chr7:102714451..102716302-chr7:102729810..102731727,2	MCF-7	breast:
7	chr7:102714987..102719162-chr7:102758108..102764327,6	K562	blood:
8	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
9	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
10	chr7:102714408..102716045-chr7:102987929..102989478,2	MCF-7	breast:
11	chr22:20193823..20194749-chr7:102715063..102715854,2	HCT-116	colon:
12	chr1:45987091..45988045-chr7:102714307..102715515,3	Hela-S3	cervix:
13	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
14	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
15	chr7:102714083..102716830-chr7:102726342..102727868,2	K562	blood:
16	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
17	chr17:56707584..56709248-chr7:102715096..102717010,2	MCF-7	breast:
18	chr7:102713709..102715211-chr7:102789642..102791984,2	K562	blood:
19	chr16:2014658..2015448-chr7:102714835..102715649,2	HCT-116	colon:
20	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:
21	chr7:102714786..102716772-chr7:102789401..102791256,2	MCF-7	breast:

Variant related genes	Relation type
FBXL13	TF binding region
ARMC10	TF binding region
ARMC10	CpG island
FBXL13	CpG island
ENSG00000235354	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000105819	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000222011	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000236499	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3338407	chr7:102714341-102716889	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr7:102714000-102716400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:102714000-102716800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:102714000-102717000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:102714200-102716200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:102714200-102716800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:102714200-102717000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:102714200-102717000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:102714200-102717000	Active TSS	A549	lung
11	chr7:102714400-102715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:102714400-102715200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:102714400-102715200	Flanking Active TSS	Dnd41	blood
14	chr7:102714400-102715200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:102714400-102716200	Active TSS	Fetal Brain Male	brain
16	chr7:102714400-102716600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:102714400-102716600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:102714400-102716600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:102714400-102716600	Active TSS	Aorta	Aorta
20	chr7:102714400-102716600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:102714400-102716800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr7:102714400-102717000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:102714600-102715200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:102714600-102715200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr7:102714600-102715200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr7:102714600-102715200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:102714600-102715200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr7:102714600-102715200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:102714600-102715200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:102714600-102715200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:102714600-102715200	Flanking Active TSS	Fetal Thymus	thymus
32	chr7:102714600-102716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:102714600-102716200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:102714600-102716200	Active TSS	Primary T cells from cord blood	blood
35	chr7:102714600-102716200	Active TSS	Brain Germinal Matrix	brain
36	chr7:102714600-102716400	Active TSS	Colon Smooth Muscle	Colon
37	chr7:102714600-102716400	Active TSS	Gastric	stomach
38	chr7:102714600-102716400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:102714600-102716600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:102714600-102716600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:102714600-102716600	Active TSS	Fetal Intestine Small	intestine
42	chr7:102714600-102716600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr7:102714600-102716600	Active TSS	Lung	lung
44	chr7:102714600-102716600	Active TSS	Ovary	ovary
45	chr7:102714600-102716600	Active TSS	Placenta Amnion	Placenta Amnion
46	chr7:102714600-102716800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr7:102714600-102717000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:102714800-102715200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr7:102714800-102715200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:102714800-102715200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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