Variant report

Variant	rs7971535
Chromosome Location	chr12:123400137-123400138
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123378710..123380818-chr12:123397888..123402469,4	K562	blood:
2	chr12:123378710..123380705-chr12:123397888..123401064,3	K562	blood:
3	chr12:123380536..123384809-chr12:123398917..123403904,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs55646110	0.91[AFR][1000 genomes]
rs55796417	0.85[AMR][1000 genomes]
rs55830208	0.85[AMR][1000 genomes]
rs55939945	0.89[AFR][1000 genomes]
rs56020503	0.85[AMR][1000 genomes]
rs56150478	0.85[AMR][1000 genomes]
rs56288804	0.85[AMR][1000 genomes]
rs56725866	0.85[AMR][1000 genomes]
rs57310784	0.87[AMR][1000 genomes]
rs57863319	0.85[AMR][1000 genomes]
rs59211448	0.85[AMR][1000 genomes]
rs59379557	0.85[AMR][1000 genomes]
rs59526938	0.81[AFR][1000 genomes]
rs60341839	0.85[AMR][1000 genomes]
rs60739634	0.84[AFR][1000 genomes]
rs60809882	0.85[AMR][1000 genomes]
rs60920158	0.85[AMR][1000 genomes]
rs60987910	0.85[AMR][1000 genomes]
rs61377358	0.85[AMR][1000 genomes]
rs61516893	0.85[AMR][1000 genomes]
rs61592192	0.85[AMR][1000 genomes]
rs73406966	0.85[AMR][1000 genomes]
rs73406997	0.85[AMR][1000 genomes]
rs73408803	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408810	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408812	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408818	1.00[AFR][1000 genomes]
rs73408820	0.82[AFR][1000 genomes]
rs73408832	0.91[AFR][1000 genomes]
rs73408835	0.81[AFR][1000 genomes]
rs73408838	0.85[AMR][1000 genomes]
rs73408846	0.85[AMR][1000 genomes]
rs73408887	0.85[AMR][1000 genomes]
rs73411017	0.85[AMR][1000 genomes]
rs73411033	0.85[AMR][1000 genomes]
rs73411041	0.85[AMR][1000 genomes]
rs73411043	0.85[AMR][1000 genomes]
rs73411057	0.85[AMR][1000 genomes]
rs73411058	0.85[AMR][1000 genomes]
rs73411063	0.85[AMR][1000 genomes]
rs752164	0.85[AMR][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123388400-123401000	Weak transcription	A549	lung
2	chr12:123395000-123400800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:123395000-123401000	Weak transcription	HMEC	breast
4	chr12:123395000-123401200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:123395000-123401200	Weak transcription	Spleen	Spleen
6	chr12:123395000-123401200	Weak transcription	HSMMtube	muscle
7	chr12:123395000-123401600	Weak transcription	Colonic Mucosa	Colon
8	chr12:123395000-123402000	Weak transcription	Right Ventricle	heart
9	chr12:123395000-123402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:123395000-123402400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
12	chr12:123395200-123401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:123395400-123401200	Weak transcription	Left Ventricle	heart
14	chr12:123396800-123401800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:123396800-123401800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:123396800-123401800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:123397200-123401200	Weak transcription	Fetal Heart	heart
18	chr12:123397200-123402000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:123398200-123402000	Weak transcription	Right Atrium	heart
20	chr12:123399000-123401200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:123400000-123400800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:123400000-123400800	Weak transcription	Placenta	Placenta

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