Variant report

Variant	rs33208
Chromosome Location	chr12:31062368-31062369
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	chr12:31061546..31062526-chr20:26189168..26190012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227195	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11051130	1.00[EUR][1000 genomes]
rs12298482	1.00[EUR][1000 genomes]
rs184940	0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs244501	1.00[EUR][1000 genomes]
rs33212	1.00[EUR][1000 genomes]
rs33213	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs33242	1.00[EUR][1000 genomes]
rs33243	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs33244	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs33246	1.00[EUR][1000 genomes]
rs708195	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS 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
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31058600-31062800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:31058800-31062600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:31059000-31062600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:31059000-31066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31060800-31062400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:31060800-31065000	Enhancers	Fetal Stomach	stomach
7	chr12:31061000-31062600	Enhancers	Colon Smooth Muscle	Colon
8	chr12:31061000-31063200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr12:31061200-31062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:31061200-31063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:31061200-31063200	Enhancers	HepG2	liver
12	chr12:31061200-31063400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:31061200-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:31061200-31063400	Enhancers	NHDF-Ad	bronchial
15	chr12:31061200-31064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:31061400-31063000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:31061400-31063400	Enhancers	Fetal Lung	lung
18	chr12:31061400-31063400	Enhancers	Fetal Muscle Leg	muscle
19	chr12:31061400-31063400	Enhancers	Ovary	ovary
20	chr12:31061600-31062400	Enhancers	Brain Hippocampus Middle	brain
21	chr12:31061600-31062800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:31061600-31063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:31061600-31063200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:31061600-31063200	Enhancers	GM12878-XiMat	blood
25	chr12:31061600-31063400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:31061600-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:31061800-31062400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:31061800-31062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:31061800-31062400	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:31061800-31063200	Enhancers	Rectal Smooth Muscle	rectum
31	chr12:31061800-31063200	Enhancers	Osteobl	bone
32	chr12:31061800-31063400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:31061800-31063400	Enhancers	Adipose Nuclei	Adipose
34	chr12:31062000-31062400	Enhancers	NHLF	lung
35	chr12:31062000-31063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:31062000-31063200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:31062000-31063200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:31062200-31062400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:31062200-31062400	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:31062200-31062400	Enhancers	Lung	lung
41	chr12:31062200-31062800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:31062200-31064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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