Variant report

Variant	rs74109660
Chromosome Location	chr12:76119968-76119969
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:76118463-76120029	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr12:76119880-76120030	HMEC	breast:	n/a	n/a
3	SP1	chr12:76117868-76119975	HCT-116	colon:	n/a	n/a
4	TCF12	chr12:76118438-76119968	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:76117997-76120227	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76020325..76023301-chr12:76118678..76120430,2	MCF-7	breast:
2	chr12:76111051..76121376-chr12:76416110..76428653,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264062	TF binding region
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17115572	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840103	1.00[AMR][1000 genomes]
rs73376993	1.00[AMR][1000 genomes]
rs73377001	1.00[AMR][1000 genomes]
rs73378905	1.00[AMR][1000 genomes]
rs73378919	1.00[AMR][1000 genomes]
rs74109651	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76113600-76120000	Enhancers	Fetal Stomach	stomach
2	chr12:76113600-76120200	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:76114000-76120000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:76114200-76120200	Enhancers	NHLF	lung
5	chr12:76114400-76121200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:76114600-76120000	Enhancers	NH-A	brain
7	chr12:76114600-76120200	Enhancers	HUVEC	blood vessel
8	chr12:76115200-76120000	Enhancers	HMEC	breast
9	chr12:76115400-76121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:76115800-76120000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:76115800-76121000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:76116600-76120000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:76118000-76120000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:76118400-76120000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:76118400-76120000	Enhancers	Fetal Kidney	kidney
16	chr12:76118400-76120200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:76118400-76120200	Enhancers	NHEK	skin
18	chr12:76118600-76120000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:76118600-76120000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:76118800-76120000	Enhancers	Hela-S3	cervix
21	chr12:76119200-76120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:76119200-76121000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:76119400-76120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:76119400-76120200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:76119400-76121000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:76119400-76121200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:76119600-76120800	Weak transcription	HepG2	liver
28	chr12:76119600-76121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:76119600-76121200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:76119600-76121200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:76119600-76122800	Weak transcription	Psoas Muscle	Psoas
32	chr12:76119600-76127400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:76119800-76120000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:76119800-76120000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:76119800-76120000	Enhancers	Osteobl	bone
36	chr12:76119800-76120200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:76119800-76120200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:76119800-76120200	Enhancers	NHDF-Ad	bronchial
39	chr12:76119800-76120800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:76119800-76121000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:76119800-76121000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:76119800-76121000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:76119800-76121200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:76119800-76121200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:76119800-76121200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:76119800-76121200	Weak transcription	HSMMtube	muscle
47	chr12:76119800-76121800	Enhancers	A549	lung
48	chr12:76119800-76127000	Weak transcription	Fetal Lung	lung

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