Variant report

Variant	rs73322755
Chromosome Location	chr12:68314272-68314273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68307323..68311643-chr12:68312148..68315840,4	K562	blood:
2	chr12:68302716..68305733-chr12:68312803..68316283,4	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs28496265	1.00[EUR][1000 genomes]
rs2906847	1.00[EUR][1000 genomes]
rs55916709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56131707	1.00[EUR][1000 genomes]
rs56215754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57329873	1.00[AMR][1000 genomes]
rs58019545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58123354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58233262	1.00[AMR][1000 genomes]
rs58429466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58627876	1.00[EUR][1000 genomes]
rs58918170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58973781	1.00[EUR][1000 genomes]
rs59155952	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59781510	1.00[EUR][1000 genomes]
rs61260239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303859	1.00[EUR][1000 genomes]
rs73322739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324839	1.00[EUR][1000 genomes]
rs73324848	1.00[EUR][1000 genomes]
rs73324851	1.00[EUR][1000 genomes]
rs73324853	1.00[EUR][1000 genomes]
rs73324861	1.00[EUR][1000 genomes]
rs74099862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955966	1.00[EUR][1000 genomes]
rs7962113	1.00[EUR][1000 genomes]
rs7964651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977996	1.00[EUR][1000 genomes]
rs7980788	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68307600-68318800	Weak transcription	Fetal Heart	heart
2	chr12:68310000-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:68310400-68319000	Weak transcription	Left Ventricle	heart
4	chr12:68310600-68317000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:68310600-68317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:68310600-68318200	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:68312000-68317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:68312200-68315000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:68312200-68315800	Enhancers	HSMMtube	muscle
11	chr12:68312400-68316200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:68312800-68315200	Enhancers	NH-A	brain
13	chr12:68313000-68314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:68313000-68314600	Enhancers	HSMM	muscle
15	chr12:68313000-68315000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:68313000-68315200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:68313000-68316000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:68313200-68315400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:68313200-68315400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:68313200-68316200	Enhancers	Fetal Intestine Large	intestine
21	chr12:68313200-68316200	Enhancers	Fetal Intestine Small	intestine
22	chr12:68313400-68314400	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:68313400-68315200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:68313400-68315400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:68313400-68315400	Enhancers	Stomach Mucosa	stomach
26	chr12:68313600-68315000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:68313600-68315200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr12:68313600-68315200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:68313600-68315400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:68313800-68314400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:68313800-68314400	Flanking Active TSS	HMEC	breast
32	chr12:68313800-68315200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:68313800-68315200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:68313800-68315200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:68313800-68315200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:68313800-68315200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:68313800-68315200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:68313800-68315200	Enhancers	Gastric	stomach
39	chr12:68313800-68315200	Enhancers	Pancreas	Pancrea
40	chr12:68313800-68315200	Enhancers	Small Intestine	intestine
41	chr12:68313800-68315200	Flanking Active TSS	NHEK	skin
42	chr12:68313800-68315400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:68313800-68315400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:68313800-68315600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:68313800-68315800	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:68314000-68315000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:68314000-68315000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:68314000-68315000	Weak transcription	A549	lung
49	chr12:68314000-68315400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:68314000-68315800	Enhancers	Fetal Brain Male	brain

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