Variant report

Variant	rs4729673
Chromosome Location	chr7:100888737-100888738
allele	C/G
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	POU2F2	chr7:100887454-100888824	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:100887031-100888845	HUVEC	blood vessel:	n/a	n/a
3	CBX3	chr7:100887023-100889060	K562	blood:	n/a	n/a
4	USF1	chr7:100888184-100888968	ECC-1	luminal epithelium:	n/a	chr7:100888692-100888703
5	BCL3	chr7:100887608-100888766	A549	lung:	n/a	chr7:100888363-100888372 chr7:100888099-100888107
6	PML	chr7:100887400-100888825	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100887391-100888762	HUVEC	blood vessel:	n/a	n/a
8	HCFC1	chr7:100887150-100888901	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:100887513-100888753	HCT-116	colon:	n/a	n/a
10	POLR2A	chr7:100887592-100888799	GM12892	blood:	n/a	n/a
11	POLR2A	chr7:100887486-100888778	MCF-7	breast:	n/a	n/a
12	MAX	chr7:100888478-100888784	H1-hESC	embryonic stem cell:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702
13	POLR2A	chr7:100887024-100889080	HepG2	liver:	n/a	n/a
14	FOSL2	chr7:100887543-100888770	A549	lung:	n/a	n/a
15	POLR2A	chr7:100887729-100888770	MCF-7	breast:	n/a	n/a
16	MYC	chr7:100887244-100888776	K562	blood:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888331-100888340 chr7:100887746-100887753 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702 chr7:100888345-100888355
17	MAX	chr7:100887301-100888811	MCF-7	breast:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888331-100888340 chr7:100887746-100887753 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702 chr7:100888345-100888355
18	TCF12	chr7:100887503-100888834	ECC-1	luminal epithelium:	n/a	n/a
19	NRF1	chr7:100887251-100888942	SK-N-SH	brain:	n/a	chr7:100888445-100888459 chr7:100888447-100888458
20	MAX	chr7:100887051-100888829	HepG2	liver:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888331-100888340 chr7:100887746-100887753 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702 chr7:100888345-100888355
21	POLR2A	chr7:100887456-100888747	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr7:100887531-100888803	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:100887119-100888786	GM12891	blood:	n/a	n/a
24	USF1	chr7:100887977-100888880	ECC-1	luminal epithelium:	n/a	chr7:100888692-100888703
25	MAX	chr7:100886925-100888964	K562	blood:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888331-100888340 chr7:100887746-100887753 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702 chr7:100888345-100888355
26	POLR2A	chr7:100887254-100888933	PFSK-1	brain:	n/a	n/a
27	MYC	chr7:100887158-100888833	K562	blood:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888331-100888340 chr7:100887746-100887753 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702 chr7:100888345-100888355
28	POLR2A	chr7:100887347-100888847	HUVEC	blood vessel:	n/a	n/a
29	USF2	chr7:100887547-100888783	GM12878	blood:	n/a	chr7:100888692-100888703 chr7:100887689-100887705
30	HEY1	chr7:100887587-100888751	HepG2	liver:	n/a	chr7:100887677-100887692 chr7:100888427-100888442
31	MAX	chr7:100887408-100888888	H1-hESC	embryonic stem cell:	n/a	chr7:100888691-100888704 chr7:100888692-100888703 chr7:100888331-100888340 chr7:100887746-100887753 chr7:100888693-100888702 chr7:100888691-100888704 chr7:100888691-100888704 chr7:100888693-100888702 chr7:100888345-100888355
32	USF1	chr7:100888184-100888934	K562	blood:	n/a	chr7:100888692-100888703
33	ATF3	chr7:100887490-100888798	K562	blood:	n/a	n/a
34	MTA3	chr7:100887132-100888824	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:100887459-100888771	K562	blood:	n/a	n/a
36	USF1	chr7:100888443-100888899	A549	lung:	n/a	chr7:100888692-100888703
37	USF1	chr7:100888371-100888978	A549	lung:	n/a	chr7:100888692-100888703
38	TCF12	chr7:100887375-100888937	A549	lung:	n/a	n/a
39	USF1	chr7:100888464-100888831	H1-hESC	embryonic stem cell:	n/a	chr7:100888692-100888703
40	MXI1	chr7:100886742-100889213	IMR90	lung:	n/a	chr7:100888694-100888703
41	ELF1	chr7:100887396-100889202	MCF-7	breast:	n/a	chr7:100888427-100888439 chr7:100888363-100888374
42	POLR2A	chr7:100887599-100888742	GM12892	blood:	n/a	n/a
43	POLR2A	chr7:100887014-100888753	PBDE	blood:	n/a	n/a
44	POLR2A	chr7:100887001-100889333	PFSK-1	brain:	n/a	n/a
45	USF2	chr7:100888529-100888762	HepG2	liver:	n/a	chr7:100888692-100888703
46	POLR2A	chr7:100887572-100888749	GM12878	blood:	n/a	n/a
47	ELF1	chr7:100887441-100888974	GM12878	blood:	n/a	chr7:100888427-100888439 chr7:100888363-100888374
48	POLR2A	chr7:100887472-100888855	U87	brain:	n/a	n/a
49	TAF1	chr7:100887425-100888798	ECC-1	luminal epithelium:	n/a	n/a
50	GABPA	chr7:100887444-100888917	SK-N-SH	brain:	n/a	chr7:100888445-100888459

No.	Distal block	Cell Line	Cell type
1	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:
2	chr7:100858478..100862757-chr7:100884994..100890276,15	MCF-7	breast:
3	chr7:100863090..100866963-chr7:100885534..100889185,4	MCF-7	breast:
4	chr7:100835495..100836483-chr7:100888453..100888982,2	K562	blood:
5	chr7:100888737..100891690-chr7:100902094..100903966,2	MCF-7	breast:
6	chr7:100859374..100863045-chr7:100885733..100890781,8	K562	blood:
7	chr7:100888574..100891028-chr7:100920575..100922314,2	MCF-7	breast:
8	chr7:100796810..100799050-chr7:100886468..100889283,2	MCF-7	breast:
9	chr7:100025085..100028095-chr7:100886628..100889556,3	MCF-7	breast:
10	chr7:100491924..100495059-chr7:100886100..100889819,5	MCF-7	breast:
11	chr7:100859513..100863025-chr7:100885730..100890155,10	MCF-7	breast:
12	chr7:100888396..100888966-chr9:88897054..88897967,3	NB4	blood:
13	chr7:100854110..100856306-chr7:100888195..100889806,2	MCF-7	breast:
14	chr7:100804987..100809107-chr7:100886873..100890454,4	MCF-7	breast:
15	chr7:100491227..100493354-chr7:100886184..100889152,2	K562	blood:

Variant related genes	Relation type
FIS1	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000135070	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10250685	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs10953329	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs1468358	0.80[CEU][hapmap]
rs2302428	0.84[CEU][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes]
rs35094522	0.84[CEU][hapmap]
rs3757459	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3757460	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3757462	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3807511	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4379383	0.84[CEU][hapmap];0.87[CHB][hapmap]
rs4729672	0.80[EUR][1000 genomes]
rs4729676	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7784229	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr7:100886800-100889000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:100887000-100889000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:100887000-100889400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:100887200-100888800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:100887200-100888800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:100887200-100888800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:100887200-100888800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:100887200-100889000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:100887200-100889000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:100887200-100889000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:100887200-100889200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr7:100887200-100889200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:100887200-100889200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:100887400-100888800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:100887400-100888800	Active TSS	Aorta	Aorta
16	chr7:100887400-100888800	Active TSS	Brain Angular Gyrus	brain
17	chr7:100887400-100888800	Active TSS	Colon Smooth Muscle	Colon
18	chr7:100887400-100888800	Active TSS	Esophagus	oesophagus
19	chr7:100887400-100888800	Active TSS	Fetal Kidney	kidney
20	chr7:100887400-100888800	Active TSS	Left Ventricle	heart
21	chr7:100887400-100888800	Active TSS	Ovary	ovary
22	chr7:100887400-100888800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr7:100887400-100888800	Active TSS	NHDF-Ad	bronchial
24	chr7:100887400-100889000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:100887400-100889000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:100887400-100889000	Active TSS	Right Atrium	heart
27	chr7:100887400-100889000	Active TSS	HSMM	muscle
28	chr7:100887400-100889000	Active TSS	HSMMtube	muscle
29	chr7:100887400-100889000	Active TSS	NH-A	brain
30	chr7:100887400-100889000	Active TSS	NHLF	lung
31	chr7:100887400-100889200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:100887400-100889200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:100887400-100889400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:100887400-100889400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:100887400-100889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:100887600-100888800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:100887600-100888800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:100887600-100888800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:100887600-100888800	Active TSS	Primary T cells from cord blood	blood
40	chr7:100887600-100888800	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr7:100887600-100888800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:100887600-100888800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:100887600-100888800	Active TSS	Brain Substantia Nigra	brain
44	chr7:100887600-100888800	Active TSS	Fetal Heart	heart
45	chr7:100887600-100888800	Active TSS	Fetal Stomach	stomach
46	chr7:100887600-100889000	Active TSS	K562	blood
47	chr7:100887600-100889200	Active TSS	Fetal Lung	lung
48	chr7:100887600-100889200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
49	chr7:100887600-100889400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:100887600-100890000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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