Variant report

Variant	rs73055447
Chromosome Location	chr7:12757683-12757684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
2	chr7:12442384..12444889-chr7:12757072..12759296,2	K562	blood:
3	chr7:12757666..12759532-chr7:12853077..12856020,2	K562	blood:
4	chr7:12730040..12735403-chr7:12757431..12760673,6	K562	blood:
5	chr7:12755378..12757741-chr7:14022660..14025272,2	K562	blood:

Variant related genes	Relation type
ENSG00000146530	Chromatin interaction
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13224178	1.00[AFR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616248	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17616514	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35908302	1.00[AFR][1000 genomes]
rs55659055	1.00[ASN][1000 genomes]
rs56246037	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66620565	1.00[AFR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73053466	1.00[AFR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055421	1.00[ASN][1000 genomes]
rs73055427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055444	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055460	1.00[ASN][1000 genomes]
rs73055475	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	1.00[AFR][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]
rs892714	1.00[AFR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12754800-12760400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:12755400-12758400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:12755400-12758600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:12755400-12761800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:12755600-12758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:12755600-12758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:12755600-12758400	Weak transcription	Fetal Lung	lung
8	chr7:12755600-12761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:12755800-12758200	Weak transcription	NHEK	skin
10	chr7:12755800-12758400	Weak transcription	NHLF	lung
11	chr7:12755800-12758600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:12755800-12759600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:12755800-12763000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:12756000-12758400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:12756000-12759000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:12756200-12758200	Weak transcription	NHDF-Ad	bronchial
17	chr7:12756200-12758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:12756200-12758600	Weak transcription	Lung	lung
19	chr7:12756200-12758600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:12756200-12758800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:12756200-12759800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:12756200-12759800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:12756200-12760200	Weak transcription	Esophagus	oesophagus
24	chr7:12756200-12761800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:12756200-12768800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:12756400-12757800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:12756400-12758000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:12756400-12758200	Weak transcription	Osteobl	bone
29	chr7:12756400-12758400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:12756400-12758600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:12756400-12762200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:12756400-12762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:12756400-12770800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:12756600-12757800	Weak transcription	Psoas Muscle	Psoas
35	chr7:12756600-12758200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:12756600-12758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:12756600-12758200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:12756600-12758400	Weak transcription	HSMMtube	muscle
39	chr7:12756600-12758400	Weak transcription	NH-A	brain
40	chr7:12756600-12758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:12756600-12758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:12756600-12758800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:12756600-12758800	Weak transcription	Fetal Stomach	stomach
44	chr7:12756600-12758800	Weak transcription	Stomach Mucosa	stomach
45	chr7:12756600-12759000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:12756600-12759000	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:12756600-12770800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:12756800-12757800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:12756800-12757800	Weak transcription	Placenta	Placenta
50	chr7:12756800-12758200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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