Variant report

Variant	rs72932244
Chromosome Location	chr4:129495622-129495623
allele	A/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	CTCF	chr4:129495520-129495670	HFF-Myc	foreskin:	n/a	n/a
2	TCF12	chr4:129494530-129496335	A549	lung:	n/a	n/a
3	POLR2A	chr4:129495595-129495757	MCF10A-Er-Src	breast:	n/a	n/a
4	SP1	chr4:129494557-129496269	A549	lung:	n/a	n/a
5	GATA3	chr4:129494510-129496178	A549	lung:	n/a	n/a
6	FOSL2	chr4:129494482-129495633	A549	lung:	n/a	n/a
7	CTCF	chr4:129495540-129495690	GM12864	blood:	n/a	n/a
8	EP300	chr4:129494518-129496276	A549	lung:	n/a	chr4:129495762-129495776 chr4:129494642-129494656
9	CTCF	chr4:129494838-129496470	A549	lung:	n/a	chr4:129495968-129495981 chr4:129495966-129495982 chr4:129495968-129495977 chr4:129495965-129495978 chr4:129495967-129495988 chr4:129495965-129495983
10	SP1	chr4:129494626-129496209	A549	lung:	n/a	n/a
11	CTCF	chr4:129495533-129496266	K562	blood:	n/a	chr4:129495968-129495981 chr4:129495966-129495982 chr4:129495968-129495977 chr4:129495965-129495978 chr4:129495967-129495988 chr4:129495965-129495983
12	EP300	chr4:129494375-129496261	A549	lung:	n/a	chr4:129495762-129495776 chr4:129494642-129494656
13	RAD21	chr4:129494719-129496322	A549	lung:	n/a	chr4:129495971-129495983 chr4:129495966-129495985 chr4:129495969-129495982 chr4:129495971-129495981
14	SMC3	chr4:129495560-129496396	SK-N-SH	brain:	n/a	chr4:129495967-129495975 chr4:129495967-129495981 chr4:129495971-129495981

No.	Distal block	Cell Line	Cell type
1	chr4:129492013..129498119-chr4:129729678..129735945,8	K562	blood:
2	chr4:129488347..129490310-chr4:129494247..129495821,2	MCF-7	breast:
3	chr4:129491965..129493677-chr4:129495248..129496967,2	MCF-7	breast:
4	chr4:129495559..129496404-chr4:129784372..129785130,3	MCF-7	breast:
5	chr4:129492118..129498184-chr4:129729905..129734294,8	MCF-7	breast:
6	chr4:129491971..129500938-chr4:129730367..129735945,15	K562	blood:
7	chr4:129495601..129496471-chr4:129784448..129785345,3	K562	blood:
8	chr4:129495478..129496468-chr4:129730290..129731271,9	MCF-7	breast:
9	chr4:129495515..129496021-chr4:129565597..129566126,2	K562	blood:
10	chr4:129494330..129496014-chr4:129729922..129732256,2	MCF-7	breast:
11	chr4:129495570..129496503-chr4:129732506..129733041,2	MCF-7	breast:
12	chr4:129348941..129349503-chr4:129495504..129496104,2	MCF-7	breast:
13	chr4:129495464..129496208-chr4:129703328..129704118,2	MCF-7	breast:
14	chr4:129494838..129497482-chr4:129516875..129519150,2	K562	blood:
15	chr4:129495565..129497474-chr4:129498846..129501464,2	MCF-7	breast:
16	chr4:129374770..129377101-chr4:129495574..129497418,2	K562	blood:
17	chr4:129374210..129376419-chr4:129494420..129495998,2	MCF-7	breast:
18	chr4:129495544..129496488-chr4:129730414..129731289,4	K562	blood:

Variant related genes	Relation type
ENSG00000248187	TF binding region
ENSG00000251432	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11935649	0.83[ASN][1000 genomes]
rs17013484	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17013486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57357435	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58160513	0.81[EUR][1000 genomes]
rs58200674	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59261281	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60593095	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60972557	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72932234	0.83[ASN][1000 genomes]
rs72932252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72932254	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72932256	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72932257	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129482800-129498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129487400-129496200	Enhancers	NHDF-Ad	bronchial
3	chr4:129490000-129495800	Enhancers	NHLF	lung
4	chr4:129490000-129496200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:129490600-129499600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:129491200-129496200	Enhancers	NH-A	brain
7	chr4:129491400-129496200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:129491400-129496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:129491600-129495800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:129492600-129497200	Enhancers	Fetal Intestine Large	intestine
11	chr4:129493200-129503600	Weak transcription	K562	blood
12	chr4:129493600-129495800	Enhancers	HSMM	muscle
13	chr4:129493600-129496200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:129493800-129495800	Enhancers	HepG2	liver
15	chr4:129493800-129496000	Enhancers	HSMMtube	muscle
16	chr4:129493800-129496200	Enhancers	Ovary	ovary
17	chr4:129493800-129497000	Enhancers	Duodenum Mucosa	Duodenum
18	chr4:129494200-129495800	Enhancers	Adipose Nuclei	Adipose
19	chr4:129494200-129496000	Enhancers	Liver	Liver
20	chr4:129494200-129496200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:129494200-129496400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:129494400-129496000	Weak transcription	Psoas Muscle	Psoas
23	chr4:129494400-129496400	Weak transcription	Right Atrium	heart
24	chr4:129494600-129495800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:129494600-129496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:129494600-129496000	Weak transcription	Pancreas	Pancrea
27	chr4:129494600-129496400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:129494800-129496200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:129494800-129496400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:129494800-129499000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:129495000-129495800	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:129495000-129496000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:129495000-129496000	Weak transcription	Fetal Intestine Small	intestine
34	chr4:129495000-129496200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:129495200-129495800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr4:129495200-129496000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:129495400-129495800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:129495400-129495800	Weak transcription	Stomach Mucosa	stomach
39	chr4:129495400-129495800	Flanking Active TSS	A549	lung
40	chr4:129495400-129496200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:129495400-129511000	Weak transcription	Right Ventricle	heart
42	chr4:129495600-129495800	Active TSS	Fetal Heart	heart
43	chr4:129495600-129495800	Enhancers	Fetal Kidney	kidney
44	chr4:129495600-129496200	Enhancers	Osteobl	bone
45	chr4:129495600-129498800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:129495600-129503800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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