Variant report

Variant	rs74100111
Chromosome Location	chr12:66585508-66585509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66578488..66580000-chr12:66585242..66587314,2	MCF-7	breast:
2	chr12:66583600..66585977-chr12:66589320..66590902,2	MCF-7	breast:
3	chr12:66578489..66581069-chr12:66583580..66586870,3	K562	blood:
4	chr12:66570661..66572865-chr12:66583805..66585652,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12303177	0.93[AFR][1000 genomes]
rs28461893	0.93[AFR][1000 genomes]
rs74100118	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active 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	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66582400-66586000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:66583400-66585600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:66583400-66586000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:66583600-66585600	Enhancers	Brain Germinal Matrix	brain
5	chr12:66583600-66585800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:66583600-66589000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:66583600-66589000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:66583600-66591400	Weak transcription	Osteobl	bone
9	chr12:66583800-66589000	Weak transcription	Placenta	Placenta
10	chr12:66583800-66593000	Weak transcription	Aorta	Aorta
11	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:66584200-66585600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:66584200-66585600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:66584200-66586000	Active TSS	Primary B cells from cord blood	blood
15	chr12:66584400-66585600	Enhancers	Fetal Muscle Leg	muscle
16	chr12:66584400-66585800	Flanking Active TSS	Fetal Lung	lung
17	chr12:66584400-66588800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:66584600-66585600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:66584600-66585600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr12:66584600-66585800	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:66584600-66586000	Enhancers	Gastric	stomach
22	chr12:66584600-66586000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:66584600-66586400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:66584800-66585600	Enhancers	Left Ventricle	heart
25	chr12:66584800-66585600	Enhancers	Lung	lung
26	chr12:66584800-66585600	Enhancers	Right Atrium	heart
27	chr12:66585000-66585600	Enhancers	Adipose Nuclei	Adipose
28	chr12:66585000-66585800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:66585000-66585800	Enhancers	Fetal Kidney	kidney
30	chr12:66585000-66586000	Enhancers	Stomach Mucosa	stomach
31	chr12:66585000-66590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:66585000-66591000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:66585000-66591400	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:66585200-66589000	Weak transcription	Right Ventricle	heart
35	chr12:66585400-66585600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:66585400-66585600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:66585400-66585600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:66585400-66585600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:66585400-66585600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr12:66585400-66585600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
41	chr12:66585400-66585600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:66585400-66585600	ZNF genes & repeats	Esophagus	oesophagus
43	chr12:66585400-66585600	Enhancers	Ovary	ovary
44	chr12:66585400-66585600	Flanking Active TSS	Spleen	Spleen
45	chr12:66585400-66589200	Weak transcription	HUVEC	blood vessel

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