Variant report

Variant	rs12301171
Chromosome Location	chr12:57072817-57072818
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57063771..57065915-chr12:57071366..57072915,2	MCF-7	breast:
2	chr12:57054945..57056798-chr12:57071104..57072974,2	K562	blood:
3	chr12:57057875..57064396-chr12:57067862..57074098,12	K562	blood:
4	chr12:57072323..57076098-chr12:57080520..57083187,3	MCF-7	breast:
5	chr12:57067309..57072885-chr12:57076964..57083697,11	K562	blood:
6	chr12:57071098..57073439-chr12:57077293..57080257,6	MCF-7	breast:
7	chr12:56690399..56692620-chr12:57071249..57073401,2	K562	blood:
8	chr12:57071568..57074070-chr12:57103902..57106725,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction
ENSG00000241217	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11171921	1.00[EUR][1000 genomes]
rs12298255	1.00[EUR][1000 genomes]
rs12299901	1.00[EUR][1000 genomes]
rs12304710	1.00[EUR][1000 genomes]
rs12306516	1.00[EUR][1000 genomes]
rs12316351	1.00[EUR][1000 genomes]
rs12317442	1.00[EUR][1000 genomes]
rs28753857	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56951470	1.00[EUR][1000 genomes]
rs59626769	1.00[EUR][1000 genomes]
rs73338947	1.00[EUR][1000 genomes]
rs73338948	1.00[EUR][1000 genomes]
rs9290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
3	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:57061400-57075000	Genic enhancers	A549	lung
6	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
7	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:57065000-57077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
10	chr12:57065200-57074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:57065200-57074000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:57065200-57074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:57065200-57078000	Weak transcription	Aorta	Aorta
14	chr12:57065200-57079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:57065400-57073600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:57065400-57077800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:57065800-57077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:57066200-57075600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:57066400-57073000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:57066400-57073800	Weak transcription	Fetal Brain Female	brain
21	chr12:57066400-57074000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:57066400-57074200	Weak transcription	NHDF-Ad	bronchial
23	chr12:57066600-57073600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:57066600-57073800	Weak transcription	Brain Germinal Matrix	brain
25	chr12:57066600-57077800	Weak transcription	Osteobl	bone
26	chr12:57066800-57077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:57067000-57074600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:57067000-57077600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:57067000-57077800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:57067000-57077800	Weak transcription	Fetal Heart	heart
31	chr12:57067200-57074200	Weak transcription	Placenta	Placenta
32	chr12:57067200-57077800	Weak transcription	Fetal Kidney	kidney
33	chr12:57067200-57077800	Weak transcription	HUVEC	blood vessel
34	chr12:57067200-57077800	Weak transcription	NHLF	lung
35	chr12:57068000-57077600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:57068200-57074000	Weak transcription	Fetal Lung	lung
37	chr12:57068200-57074400	Weak transcription	HSMM	muscle
38	chr12:57068200-57076000	Weak transcription	Primary B cells from cord blood	blood
39	chr12:57068200-57077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:57068800-57074000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:57068800-57075600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:57068800-57077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:57069000-57077200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:57069200-57073000	Enhancers	Small Intestine	intestine
45	chr12:57069400-57073000	Enhancers	Right Ventricle	heart
46	chr12:57069400-57073400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:57069400-57074000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:57069400-57074600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:57069400-57077200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:57069600-57073000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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