Variant report

Variant	rs12305016
Chromosome Location	chr12:8179677-8179678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:8178837..8181131-chr12:8206683..8209804,4	K562	blood:
2	chr12:8176971..8181306-chr12:8183014..8188345,18	MCF-7	breast:
3	chr12:8178833..8179813-chr12:52445614..52446259,2	Hela-S3	cervix:
4	chr12:8179307..8179823-chrX:53448565..53449140,2	Hela-S3	cervix:
5	chr12:8178333..8181229-chr12:8233064..8234704,2	MCF-7	breast:
6	chr1:169075593..169076555-chr12:8179213..8180108,3	Hela-S3	cervix:
7	chr12:8088413..8089953-chr12:8179064..8181262,2	K562	blood:
8	chr1:150551587..150552168-chr12:8179086..8179706,2	Hela-S3	cervix:
9	chr12:8178331..8180832-chr12:8228186..8229968,3	MCF-7	breast:
10	chr12:8087342..8089043-chr12:8178119..8180785,2	K562	blood:
11	chr12:8176284..8181862-chr12:8230041..8234141,6	MCF-7	breast:
12	chr12:8173305..8176433-chr12:8179006..8181841,3	K562	blood:
13	chr12:8178184..8181127-chr12:8181386..8183148,2	MCF-7	breast:
14	chr12:8179516..8181390-chr12:8233303..8235980,2	K562	blood:
15	chr12:8178961..8179803-chr5:38846161..38846673,2	Hela-S3	cervix:
16	chr12:8178837..8179754-chr5:132299050..132299881,2	Hela-S3	cervix:
17	chr12:8178966..8179959-chr21:38639761..38640366,2	Hela-S3	cervix:
18	chr12:8178228..8180770-chr12:8234363..8236253,3	MCF-7	breast:
19	chr12:8169775..8172147-chr12:8177880..8181091,3	K562	blood:
20	chr12:8179156..8179761-chr9:102581954..102582906,2	Hela-S3	cervix:
21	chr12:8121881..8123482-chr12:8179287..8181428,2	MCF-7	breast:
22	chr12:8179284..8180074-chr7:66119299..66120199,2	Hela-S3	cervix:
23	chr12:8179308..8179959-chr2:47403138..47403693,2	Hela-S3	cervix:
24	chr12:8179217..8179741-chr20:47894541..47895211,2	Hela-S3	cervix:
25	chr11:86454887..86455591-chr12:8179213..8179771,2	Hela-S3	cervix:
26	chr12:8178100..8182086-chr12:8196857..8200725,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072501	Chromatin interaction
ENSG00000072364	Chromatin interaction
ENSG00000059804	Chromatin interaction
ENSG00000157538	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000272023	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000272948	Chromatin interaction
ENSG00000237461	Chromatin interaction
ENSG00000255581	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000065970	Chromatin interaction
ENSG00000089818	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12303680	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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	93 gene(s)	inside rSNPs	diseases
7	nsv1054331	chr12:7924713-8183422	Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
14	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
15	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv1044509	chr12:8130958-8182060	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr12:8178400-8180000	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr12:8178400-8180200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:8178400-8180600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:8178400-8180600	Active TSS	Brain Hippocampus Middle	brain
5	chr12:8178600-8179800	Active TSS	Liver	Liver
6	chr12:8178600-8179800	ZNF genes & repeats	Fetal Brain Male	brain
7	chr12:8178600-8180000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:8178600-8180000	Active TSS	Aorta	Aorta
9	chr12:8178600-8180000	Active TSS	Fetal Heart	heart
10	chr12:8178600-8180000	Active TSS	Fetal Lung	lung
11	chr12:8178600-8180000	Active TSS	Placenta	Placenta
12	chr12:8178600-8180000	Active TSS	NHLF	lung
13	chr12:8178600-8180200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:8178600-8180200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:8178600-8180200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:8178600-8180200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:8178600-8180200	Active TSS	Brain Angular Gyrus	brain
18	chr12:8178600-8180200	Active TSS	Colonic Mucosa	Colon
19	chr12:8178600-8180200	Active TSS	Fetal Muscle Leg	muscle
20	chr12:8178600-8180200	Active TSS	Fetal Stomach	stomach
21	chr12:8178600-8180200	Active TSS	Psoas Muscle	Psoas
22	chr12:8178600-8180200	Active TSS	Right Ventricle	heart
23	chr12:8178600-8180200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:8178600-8180400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:8178600-8180400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:8178600-8180400	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:8178600-8180400	Active TSS	Brain Substantia Nigra	brain
28	chr12:8178600-8180400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:8178600-8180400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr12:8178600-8180400	Active TSS	Fetal Brain Female	brain
31	chr12:8178600-8180400	Active TSS	Fetal Intestine Large	intestine
32	chr12:8178600-8180400	Active TSS	Fetal Muscle Trunk	muscle
33	chr12:8178600-8180400	Active TSS	Rectal Smooth Muscle	rectum
34	chr12:8178600-8180400	Active TSS	Right Atrium	heart
35	chr12:8178600-8180400	Active TSS	HMEC	breast
36	chr12:8178600-8180600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:8178600-8180600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:8178600-8180600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:8178600-8180600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:8178600-8180600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:8178600-8180600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:8178600-8180600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:8178600-8180600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr12:8178600-8180600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:8178600-8180600	Active TSS	Osteobl	bone
46	chr12:8178600-8180800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr12:8178600-8180800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:8178600-8180800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:8178600-8180800	Active TSS	Brain Anterior Caudate	brain
50	chr12:8178600-8181200	Active TSS	K562	blood

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