Variant report

Variant	rs73053491
Chromosome Location	chr7:12729933-12729934
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12727600..12730322-chr7:12818288..12819861,2	K562	blood:
2	chr7:12729465..12731915-chr7:12953468..12955831,4	K562	blood:
3	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
4	chr7:12569916..12571808-chr7:12727581..12730204,2	K562	blood:
5	chr7:12728952..12731852-chr7:12897626..12900173,2	K562	blood:
6	chr7:12728919..12730458-chr7:12808880..12810657,2	K562	blood:
7	chr7:12729298..12731295-chr7:12733837..12736086,2	MCF-7	breast:
8	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:
9	chr7:12729413..12731637-chr7:12843330..12845682,3	K562	blood:
10	chr7:12728794..12731512-chr7:12834236..12836117,2	K562	blood:
11	chr7:12727333..12730021-chr7:12763089..12765693,3	K562	blood:
12	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
13	chr16:2013425..2016345-chr7:12728816..12730609,2	K562	blood:
14	chr7:12727781..12730322-chr7:12817926..12821146,3	K562	blood:
15	chr7:12728909..12731157-chr7:12785382..12787852,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255198	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000255513	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10279548	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10279649	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10280332	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12540556	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35407540	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66871471	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67302850	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053442	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053448	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73053455	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053467	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053502	1.00[EUR][1000 genomes];0.96[ASN][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	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
3	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
5	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
6	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
8	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
9	chr7:12725800-12730400	Active TSS	Right Atrium	heart
10	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
11	chr7:12726000-12730000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:12726000-12730000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:12726000-12730000	Active TSS	HSMM	muscle
14	chr7:12726000-12730000	Active TSS	HSMMtube	muscle
15	chr7:12726000-12730200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:12726000-12730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:12726000-12730200	Active TSS	Psoas Muscle	Psoas
18	chr7:12726000-12730400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:12726000-12730600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:12726000-12730800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:12726000-12730800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:12726200-12730200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:12726200-12730200	Active TSS	Placenta	Placenta
24	chr7:12726200-12730600	Active TSS	Fetal Intestine Large	intestine
25	chr7:12726200-12730800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:12726200-12730800	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:12726200-12731000	Active TSS	HMEC	breast
28	chr7:12726200-12732800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:12726400-12730000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:12726400-12730000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:12726400-12730000	Active TSS	Stomach Smooth Muscle	stomach
32	chr7:12726400-12730400	Active TSS	Fetal Muscle Leg	muscle
33	chr7:12726400-12731200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:12727000-12730000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:12727000-12730600	Active TSS	Colonic Mucosa	Colon
36	chr7:12727800-12731200	Weak transcription	Small Intestine	intestine
37	chr7:12728000-12730200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:12728000-12730400	Active TSS	Rectal Smooth Muscle	rectum
39	chr7:12728000-12730600	Active TSS	Brain Hippocampus Middle	brain
40	chr7:12728000-12731800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:12728000-12732000	Weak transcription	NHDF-Ad	bronchial
42	chr7:12728000-12732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:12728000-12732600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:12728000-12734000	Weak transcription	Primary B cells from cord blood	blood
45	chr7:12728200-12730200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:12728200-12731400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:12728200-12732800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:12728600-12730200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:12728600-12730400	Enhancers	Fetal Heart	heart
50	chr7:12728800-12730000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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