Variant report

Variant	rs73129065
Chromosome Location	chr7:50659811-50659812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50651220..50655570-chr7:50655911..50660457,6	K562	blood:
2	chr7:50650775..50655570-chr7:50656344..50660954,5	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11575288	0.85[EUR][1000 genomes]
rs6263	0.89[EUR][1000 genomes]
rs73123231	0.89[EUR][1000 genomes]
rs73129093	1.00[AMR][1000 genomes];0.95[EUR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652000-50671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
3	chr7:50652800-50660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:50653000-50660000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:50653200-50672400	Weak transcription	NHEK	skin
6	chr7:50653400-50670600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:50654400-50660200	Weak transcription	Gastric	stomach
9	chr7:50655200-50660400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:50656400-50660200	Weak transcription	HUVEC	blood vessel
11	chr7:50657000-50662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:50657200-50660200	Weak transcription	Aorta	Aorta
13	chr7:50657200-50670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:50657400-50660200	Weak transcription	K562	blood
16	chr7:50657800-50660200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:50657800-50660400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:50657800-50660400	Weak transcription	NHLF	lung
19	chr7:50657800-50660600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:50657800-50670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:50658000-50660000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:50658000-50660200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:50658000-50660400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:50658000-50666800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:50658200-50662200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
27	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
28	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:50658400-50660000	Weak transcription	Right Ventricle	heart
30	chr7:50658400-50660200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:50658400-50667800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:50658400-50670800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:50658600-50660200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:50658600-50660200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:50658600-50662000	Weak transcription	Psoas Muscle	Psoas
36	chr7:50658600-50668600	Strong transcription	Liver	Liver
37	chr7:50658600-50670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:50658800-50660400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:50658800-50660800	Weak transcription	Esophagus	oesophagus
40	chr7:50658800-50662000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:50658800-50665800	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:50658800-50669200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:50658800-50669600	Weak transcription	HSMM	muscle
44	chr7:50658800-50671000	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:50658800-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
48	chr7:50659000-50660000	Flanking Active TSS	HepG2	liver
49	chr7:50659000-50660600	Weak transcription	Brain Anterior Caudate	brain
50	chr7:50659000-50663000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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