Variant report

Variant	rs73148449
Chromosome Location	chr7:66781108-66781109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227991	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10242530	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10278852	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10280504	0.87[ASN][1000 genomes]
rs11975662	0.87[ASN][1000 genomes]
rs2075082	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28540856	0.82[ASN][1000 genomes]
rs28542443	0.84[ASN][1000 genomes]
rs28718590	0.87[ASN][1000 genomes]
rs4521652	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6460339	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6957404	0.84[ASN][1000 genomes]
rs6957846	0.84[ASN][1000 genomes]
rs73135830	0.87[ASN][1000 genomes]
rs73148464	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73148486	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73150465	0.87[ASN][1000 genomes]
rs73150492	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73150498	0.87[ASN][1000 genomes]
rs73152206	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9654869	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66768600-66782400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66768800-66783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66768800-66783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:66769000-66781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:66769000-66785400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:66769400-66782800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:66769400-66783400	Strong transcription	Primary T cells from cord blood	blood
8	chr7:66769400-66785000	Strong transcription	Fetal Stomach	stomach
9	chr7:66769400-66785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:66770000-66782800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:66770000-66783000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:66770000-66783400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:66770000-66785400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr7:66770200-66783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:66770200-66785800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:66770400-66783400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:66770400-66783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:66770400-66783600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:66770400-66786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:66770400-66786800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:66770600-66782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:66770600-66785200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:66770600-66785400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:66770600-66786400	Weak transcription	Fetal Heart	heart
25	chr7:66770800-66783400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr7:66770800-66786800	Strong transcription	Liver	Liver
27	chr7:66771000-66785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:66771200-66781800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:66771200-66785000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:66771200-66785000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:66771400-66781600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:66771400-66781600	Strong transcription	Placenta	Placenta
33	chr7:66771400-66783000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:66771400-66785600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:66771600-66783000	Strong transcription	Left Ventricle	heart
36	chr7:66771800-66783400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:66771800-66786000	Strong transcription	Fetal Intestine Large	intestine
38	chr7:66771800-66786200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:66772000-66781400	Strong transcription	Brain Germinal Matrix	brain
40	chr7:66772200-66783200	Strong transcription	Spleen	Spleen
41	chr7:66772200-66786200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:66772400-66781400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:66772400-66781800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr7:66772400-66783000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr7:66772400-66783000	Strong transcription	Dnd41	blood
46	chr7:66772400-66783600	Strong transcription	Fetal Muscle Leg	muscle
47	chr7:66772600-66782200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:66772600-66785600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:66772600-66786200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr7:66773000-66782800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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