Variant report

Variant	rs13233654
Chromosome Location	chr7:70039026-70039027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12533226	1.00[ASN][1000 genomes]
rs12698909	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235598	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453799	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34785501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34996521	1.00[ASN][1000 genomes]
rs35342186	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35748153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35977255	1.00[ASN][1000 genomes]
rs71549359	1.00[ASN][1000 genomes]
rs71549360	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71549362	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71549363	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71549364	0.91[EUR][1000 genomes];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	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70024000-70046400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70027600-70039400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:70033800-70041600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:70034000-70041400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:70034000-70048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:70034200-70041400	Enhancers	Fetal Muscle Leg	muscle
7	chr7:70034800-70047600	Weak transcription	Fetal Lung	lung
8	chr7:70035200-70045000	Weak transcription	Right Atrium	heart
9	chr7:70035400-70039600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:70035400-70047200	Weak transcription	Ovary	ovary
11	chr7:70035800-70045200	Weak transcription	Left Ventricle	heart
12	chr7:70036000-70041000	Weak transcription	Psoas Muscle	Psoas
13	chr7:70036600-70041000	Enhancers	Fetal Brain Male	brain
14	chr7:70036600-70041000	Enhancers	Fetal Brain Female	brain
15	chr7:70036600-70047600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:70036800-70045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:70036800-70060800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:70037000-70039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:70037000-70039400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:70037000-70039600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:70037000-70039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:70037000-70039800	Weak transcription	HMEC	breast
23	chr7:70037000-70040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:70037000-70040400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:70037000-70042400	Enhancers	Liver	Liver
26	chr7:70037200-70039600	Weak transcription	HSMM	muscle
27	chr7:70037200-70039600	Weak transcription	NHEK	skin
28	chr7:70037200-70039800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:70037200-70040400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:70037200-70041600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:70037200-70045000	Weak transcription	Fetal Stomach	stomach
32	chr7:70037400-70039200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:70037400-70039400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:70037400-70039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:70037400-70039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:70037400-70039600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:70037400-70039800	Weak transcription	Fetal Heart	heart
38	chr7:70037400-70039800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:70037400-70040000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:70037400-70042000	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:70037400-70048200	Weak transcription	Fetal Intestine Large	intestine
42	chr7:70037600-70039800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:70037600-70041400	Enhancers	Brain Anterior Caudate	brain
44	chr7:70037800-70039200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:70037800-70039400	Weak transcription	NH-A	brain
46	chr7:70037800-70049200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:70038200-70040800	Enhancers	Brain Germinal Matrix	brain
48	chr7:70038600-70039200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:70038600-70039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:70038600-70059600	Weak transcription	Primary B cells from peripheral blood	blood

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