Variant report

Variant	rs74061144
Chromosome Location	chr12:12391121-12391122
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12390182..12397827-chr12:12417123..12421502,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57125171	0.85[AFR][1000 genomes]
rs61082937	1.00[EUR][1000 genomes]
rs61212823	1.00[EUR][1000 genomes]
rs61445660	1.00[EUR][1000 genomes]
rs7139259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277470	1.00[EUR][1000 genomes]
rs73277472	1.00[EUR][1000 genomes]
rs73277493	1.00[EUR][1000 genomes]
rs74061110	1.00[EUR][1000 genomes]
rs74061119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061124	0.82[AFR][1000 genomes]
rs74061127	0.85[AFR][1000 genomes]
rs74061139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061140	0.85[AFR][1000 genomes]
rs74061150	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12368400-12417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:12370800-12392200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:12377800-12407200	Weak transcription	NH-A	brain
4	chr12:12379200-12396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12379400-12393600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:12379600-12393600	Weak transcription	NHLF	lung
7	chr12:12381400-12393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:12381800-12391800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:12381800-12393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:12382000-12392000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:12382000-12393800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:12383000-12393600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:12383000-12393800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:12383000-12394200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:12384800-12392000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:12384800-12417200	Weak transcription	K562	blood
17	chr12:12385000-12392000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:12385000-12393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:12385000-12393600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:12385000-12393600	Weak transcription	Ovary	ovary
21	chr12:12385000-12394600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:12385000-12396600	Weak transcription	Left Ventricle	heart
23	chr12:12385000-12396800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:12385000-12404000	Weak transcription	Lung	lung
25	chr12:12385000-12417800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:12385200-12409200	Weak transcription	Pancreas	Pancrea
27	chr12:12386600-12396800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:12389200-12393000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:12389600-12396400	Weak transcription	Fetal Stomach	stomach
30	chr12:12389800-12391400	Enhancers	Liver	Liver
31	chr12:12389800-12393000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:12389800-12393600	Enhancers	HepG2	liver
33	chr12:12390000-12416600	Weak transcription	Psoas Muscle	Psoas
34	chr12:12390200-12396400	Weak transcription	Fetal Intestine Small	intestine
35	chr12:12390200-12397400	Weak transcription	Small Intestine	intestine
36	chr12:12390400-12391400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:12390400-12392000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:12390400-12392000	Weak transcription	HUVEC	blood vessel
39	chr12:12390400-12398800	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:12390400-12400400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:12390600-12391600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:12390600-12392000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:12390600-12392400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:12390600-12396800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:12390800-12391800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:12390800-12392000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:12390800-12392000	Weak transcription	Brain Anterior Caudate	brain
48	chr12:12390800-12392600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:12390800-12417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:12391000-12391400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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