Variant report

Variant	rs6723929
Chromosome Location	chr2:9776291-9776292
allele	C/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	MAFK	chr2:9776177-9776711	HepG2	liver:	n/a	chr2:9776333-9776349 chr2:9776611-9776622 chr2:9776334-9776348 chr2:9776338-9776347 chr2:9776612-9776623 chr2:9776331-9776351 chr2:9776610-9776624 chr2:9776611-9776626 chr2:9776611-9776622
2	MAFK	chr2:9776270-9776731	HepG2	liver:	n/a	chr2:9776333-9776349 chr2:9776611-9776622 chr2:9776334-9776348 chr2:9776338-9776347 chr2:9776612-9776623 chr2:9776331-9776351 chr2:9776610-9776624 chr2:9776611-9776626 chr2:9776611-9776622
3	POLR2A	chr2:9775879-9776486	PANC-1	pancreas:	n/a	n/a
4	GATA3	chr2:9776092-9776375	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr2:9775814-9776515	MCF-7	breast:	n/a	n/a
6	MAFF	chr2:9776269-9776683	HepG2	liver:	n/a	chr2:9776335-9776353 chr2:9776334-9776348
7	ZNF217	chr2:9776147-9776365	MCF-7	breast:	n/a	n/a
8	GATA3	chr2:9775968-9776561	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9774003..9777519-chr2:9779253..9781345,3	MCF-7	breast:
2	chr2:9774726..9777001-chr2:9783752..9786208,2	MCF-7	breast:
3	chr2:9695095..9696650-chr2:9774545..9776694,2	MCF-7	breast:
4	chr2:9775999..9777968-chr2:9781245..9783504,2	K562	blood:
5	chr2:9695463..9697852-chr2:9775968..9778612,3	K562	blood:
6	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
7	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240687	TF binding region
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1004488	1.00[AMR][1000 genomes]
rs10172624	1.00[AMR][1000 genomes]
rs10188428	1.00[AMR][1000 genomes]
rs10190680	1.00[AMR][1000 genomes]
rs10200454	1.00[AMR][1000 genomes]
rs10208526	1.00[AMR][1000 genomes]
rs10469619	1.00[AMR][1000 genomes]
rs16867145	1.00[AMR][1000 genomes]
rs4327210	1.00[AMR][1000 genomes]
rs6728922	1.00[AMR][1000 genomes]
rs73913171	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3401275	chr2:9775301-9779799	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9771600-9777800	Weak transcription	Lung	lung
2	chr2:9772000-9777800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:9772000-9778400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:9772200-9776600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:9772200-9777000	Weak transcription	K562	blood
6	chr2:9772200-9777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:9772200-9781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:9772400-9776400	Weak transcription	HMEC	breast
9	chr2:9772400-9777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:9772400-9777200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:9772400-9777600	Weak transcription	Hela-S3	cervix
12	chr2:9772400-9778000	Weak transcription	Right Atrium	heart
13	chr2:9772600-9776400	Weak transcription	Brain Substantia Nigra	brain
14	chr2:9772600-9776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:9772600-9777000	Weak transcription	NH-A	brain
16	chr2:9772600-9777600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:9772600-9777800	Weak transcription	Left Ventricle	heart
18	chr2:9772800-9777000	Weak transcription	NHEK	skin
19	chr2:9772800-9777200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:9772800-9777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:9772800-9780200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:9773000-9776600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:9773000-9776800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:9773000-9776800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:9773000-9777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:9773000-9777000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:9773000-9777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:9773000-9777600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:9773000-9778200	Weak transcription	Right Ventricle	heart
30	chr2:9773000-9778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:9773000-9778400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:9773200-9776400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:9773200-9776800	Weak transcription	NHLF	lung
34	chr2:9773200-9776800	Weak transcription	Osteobl	bone
35	chr2:9773400-9777000	Weak transcription	HSMMtube	muscle
36	chr2:9773400-9777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:9773600-9776600	Weak transcription	HSMM	muscle
38	chr2:9773600-9776600	Weak transcription	NHDF-Ad	bronchial
39	chr2:9773600-9776800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:9773600-9776800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:9773600-9777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:9773600-9777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:9773600-9777400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:9773600-9777600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:9773600-9777800	Weak transcription	Placenta	Placenta
46	chr2:9773600-9778000	Weak transcription	Psoas Muscle	Psoas
47	chr2:9773800-9777400	Weak transcription	Fetal Heart	heart
48	chr2:9774200-9777200	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:9774200-9777600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:9774400-9777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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