Variant report

Variant	rs55659055
Chromosome Location	chr7:12749767-12749768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12725982..12739416-chr7:12748956..12757396,41	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13232089	1.00[ASN][1000 genomes]
rs13242483	1.00[ASN][1000 genomes]
rs17616248	1.00[ASN][1000 genomes]
rs17616514	1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34452532	1.00[ASN][1000 genomes]
rs35044018	1.00[ASN][1000 genomes]
rs56246037	1.00[ASN][1000 genomes]
rs71536895	1.00[ASN][1000 genomes]
rs73055418	1.00[ASN][1000 genomes]
rs73055421	1.00[ASN][1000 genomes]
rs73055427	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055444	1.00[ASN][1000 genomes]
rs73055447	1.00[ASN][1000 genomes]
rs73055457	1.00[ASN][1000 genomes]
rs73055460	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055475	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061007	1.00[ASN][1000 genomes]
rs73061023	1.00[ASN][1000 genomes]
rs73061030	1.00[ASN][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12745200-12750600	Enhancers	HMEC	breast
2	chr7:12745200-12750800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:12745400-12750200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:12745800-12750200	Enhancers	NHEK	skin
5	chr7:12746400-12750200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:12746800-12755000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:12747000-12750000	Weak transcription	Fetal Kidney	kidney
8	chr7:12747000-12752000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:12747000-12753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:12747000-12753400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:12747000-12755000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:12747000-12755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:12747000-12755000	Weak transcription	NH-A	brain
14	chr7:12747200-12750800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:12747200-12751800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:12747200-12753600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:12747400-12753400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:12747400-12753400	Weak transcription	Stomach Mucosa	stomach
19	chr7:12747800-12750600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:12748200-12750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:12748200-12750800	Weak transcription	K562	blood
22	chr7:12748800-12749800	Enhancers	Placenta	Placenta
23	chr7:12748800-12750200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:12748800-12750600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:12749000-12750000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:12749000-12750800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:12749000-12751000	Enhancers	Fetal Intestine Large	intestine
28	chr7:12749200-12749800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:12749200-12750000	Enhancers	Osteobl	bone
30	chr7:12749200-12750200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:12749200-12750400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:12749200-12750600	Enhancers	NHDF-Ad	bronchial
33	chr7:12749200-12750800	Enhancers	A549	lung
34	chr7:12749400-12750400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:12749400-12750600	Enhancers	Hela-S3	cervix
36	chr7:12749400-12750600	Enhancers	HSMMtube	muscle
37	chr7:12749400-12750800	Enhancers	HSMM	muscle
38	chr7:12749400-12751400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:12749600-12751000	Enhancers	Fetal Intestine Small	intestine
40	chr7:12749600-12753400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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