Variant report

Variant	rs7305179
Chromosome Location	chr12:57576567-57576568
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:57576520-57576670	HMEC	breast:	n/a	n/a
2	RAD21	chr12:57576488-57577345	HCT-116	colon:	n/a	chr12:57576919-57576938
3	POLR2A	chr12:57576482-57577322	U87	brain:	n/a	n/a
4	CTCF	chr12:57576473-57577374	HCT-116	colon:	n/a	chr12:57576921-57576939 chr12:57576948-57576956 chr12:57576916-57576937
5	SMC3	chr12:57576548-57577195	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr12:57576316-57576598	HepG2	liver:	n/a	n/a
7	RAD21	chr12:57576468-57577399	SK-N-SH	brain:	n/a	chr12:57576919-57576938
8	CTCF	chr12:57576503-57577467	SK-N-SH	brain:	n/a	chr12:57576921-57576939 chr12:57576948-57576956 chr12:57576916-57576937
9	POLR2A	chr12:57576482-57577290	U87	brain:	n/a	n/a
10	CTCF	chr12:57576518-57577325	A549	lung:	n/a	chr12:57576921-57576939 chr12:57576948-57576956 chr12:57576916-57576937
11	RAD21	chr12:57576536-57577242	ECC-1	luminal epithelium:	n/a	chr12:57576919-57576938
12	RAD21	chr12:57576506-57577219	HCT-116	colon:	n/a	chr12:57576919-57576938
13	RAD21	chr12:57576567-57577250	A549	lung:	n/a	chr12:57576919-57576938

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57401359..57402312-chr12:57576362..57577409,4	K562	blood:
2	chr12:57516722..57519853-chr12:57574836..57577747,5	MCF-7	breast:
3	chr12:57480163..57483856-chr12:57574484..57579428,5	K562	blood:
4	chr12:57568118..57572450-chr12:57574080..57578347,5	MCF-7	breast:
5	chr12:57517952..57518717-chr12:57576444..57577434,3	K562	blood:
6	chr12:57574962..57576998-chr12:57578959..57581082,2	K562	blood:
7	chr12:57520642..57521644-chr12:57576487..57577362,6	MCF-7	breast:
8	chr12:57517714..57518858-chr12:57576416..57577659,16	MCF-7	breast:
9	chr12:57504591..57506895-chr12:57575667..57579338,3	MCF-7	breast:
10	chr12:57575198..57577019-chr12:57585311..57587590,2	K562	blood:
11	chr12:57535664..57537537-chr12:57574962..57577004,2	MCF-7	breast:
12	chr12:57566443..57567143-chr12:57576444..57577432,3	MCF-7	breast:
13	chr12:57505585..57506379-chr12:57576444..57577269,2	MCF-7	breast:
14	chr12:57492932..57495251-chr12:57576530..57578969,2	MCF-7	breast:
15	chr12:57470926..57473837-chr12:57572637..57576984,3	K562	blood:
16	chr12:57520979..57521583-chr12:57576381..57577009,2	MCF-7	breast:
17	chr12:57517785..57518769-chr12:57576442..57577173,6	MCF-7	breast:
18	chr12:57548934..57549593-chr12:57576424..57576973,2	K562	blood:
19	chr12:57476897..57479666-chr12:57576067..57577675,2	MCF-7	breast:
20	chr12:57486590..57487295-chr12:57576556..57577071,2	MCF-7	breast:
21	chr12:57520493..57523197-chr12:57574304..57576602,2	MCF-7	breast:
22	chr12:57479937..57482573-chr12:57575541..57577379,3	MCF-7	breast:
23	chr12:57521570..57523134-chr12:57574170..57576618,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRP1	TF binding region
ENSG00000166886	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000166881	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10876967	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172122	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1140648	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11837145	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800139	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1800154	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1800156	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1800165	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1800166	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1800168	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1800174	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1800175	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1800176	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800177	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1800180	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1800181	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1800182	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800187	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800189	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800191	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1800194	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074308	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4074309	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077658	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6581125	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581128	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7312323	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7398391	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975818	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv899114	chr12:57556768-57587839	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57555400-57583200	Weak transcription	Fetal Heart	heart
8	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:57566400-57583600	Strong transcription	Colon Smooth Muscle	Colon
14	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:57567200-57583600	Weak transcription	Right Atrium	heart
16	chr12:57567400-57584200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:57569400-57584000	Strong transcription	Rectal Smooth Muscle	rectum
18	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr12:57570000-57581200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:57570000-57582000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:57570000-57583200	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:57570200-57576600	Weak transcription	A549	lung
23	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
24	chr12:57570400-57581200	Strong transcription	HSMM	muscle
25	chr12:57570600-57606800	Strong transcription	Osteobl	bone
26	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr12:57571000-57576600	Weak transcription	Fetal Kidney	kidney
28	chr12:57571000-57585200	Weak transcription	Fetal Brain Male	brain
29	chr12:57571200-57576600	Weak transcription	NHEK	skin
30	chr12:57571200-57577000	Weak transcription	Hela-S3	cervix
31	chr12:57571400-57580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:57571600-57576600	Weak transcription	HMEC	breast
33	chr12:57573800-57577000	Weak transcription	Stomach Mucosa	stomach
34	chr12:57573800-57577600	Weak transcription	Pancreas	Pancrea
35	chr12:57574400-57576800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:57574400-57586400	Weak transcription	Small Intestine	intestine
37	chr12:57574600-57576800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:57574600-57577000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:57574600-57577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:57574600-57584400	Genic enhancers	Placenta	Placenta
41	chr12:57574800-57576800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:57574800-57578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:57575200-57577000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:57575200-57577000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:57575200-57577200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:57575200-57577400	Weak transcription	Left Ventricle	heart
47	chr12:57575400-57576800	Weak transcription	Spleen	Spleen
48	chr12:57575400-57577000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:57575400-57577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:57575400-57577200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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