Variant report

Variant	rs13438637
Chromosome Location	chr7:66789789-66789790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10240516	0.80[AFR][1000 genomes]
rs12672895	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73703536	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	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
5	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
6	nsv970873	chr7:66785229-66793852	Weak transcription Strong transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66775200-66807600	Weak transcription	Colonic Mucosa	Colon
2	chr7:66777200-66805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:66778800-66809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:66779800-66807600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:66780400-66790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:66780400-66791000	Weak transcription	Primary B cells from cord blood	blood
7	chr7:66780400-66791800	Weak transcription	Fetal Lung	lung
8	chr7:66780400-66804600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:66780400-66808200	Weak transcription	GM12878-XiMat	blood
10	chr7:66780400-66809400	Weak transcription	A549	lung
11	chr7:66781200-66804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:66781400-66792200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:66781400-66810200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:66782600-66804600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:66782800-66791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:66782800-66804400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:66782800-66804400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:66782800-66809400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:66783000-66790000	Weak transcription	Right Ventricle	heart
20	chr7:66783000-66792000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:66783000-66804400	Weak transcription	Left Ventricle	heart
22	chr7:66783000-66804600	Weak transcription	Brain Angular Gyrus	brain
23	chr7:66783200-66789800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:66784600-66804400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:66784800-66804400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:66785000-66790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:66785000-66791000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:66785000-66792200	Weak transcription	Fetal Brain Female	brain
29	chr7:66785000-66793200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:66785000-66804400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:66785000-66804400	Weak transcription	Fetal Intestine Small	intestine
32	chr7:66785000-66804400	Weak transcription	Fetal Stomach	stomach
33	chr7:66785200-66790000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:66785200-66793000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:66785200-66804400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:66785200-66804400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:66785400-66792200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:66785400-66804600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:66785400-66804600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:66785400-66804800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:66785600-66804400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:66785600-66804600	Weak transcription	Placenta	Placenta
43	chr7:66785600-66804800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:66785600-66804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:66785600-66804800	Weak transcription	Brain Anterior Caudate	brain
46	chr7:66785800-66808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:66785800-66816200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:66786000-66804400	Weak transcription	Fetal Intestine Large	intestine
49	chr7:66786000-66804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:66786000-66809400	Weak transcription	Dnd41	blood

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