Variant report

Variant	rs7320498
Chromosome Location	chr13:111068319-111068320
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:6)

rs_ID	r²[population]
rs35096048	0.82[EUR][1000 genomes]
rs4773182	0.83[EUR][1000 genomes]
rs56687994	0.81[EUR][1000 genomes]
rs6492267	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140025	0.82[EUR][1000 genomes]
rs7140030	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:111057800-111070400	Enhancers	Right Atrium	heart
3	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:111061600-111069200	Weak transcription	Fetal Brain Male	brain
6	chr13:111062000-111069000	Enhancers	Left Ventricle	heart
7	chr13:111062800-111068400	Weak transcription	Gastric	stomach
8	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:111064400-111069800	Weak transcription	Small Intestine	intestine
11	chr13:111064800-111069800	Weak transcription	GM12878-XiMat	blood
12	chr13:111064800-111071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:111065000-111070400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:111065000-111071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:111065000-111071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:111065000-111077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:111065000-111077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:111065200-111068400	Weak transcription	Brain Anterior Caudate	brain
19	chr13:111065200-111068600	Enhancers	Fetal Heart	heart
20	chr13:111065200-111068800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:111065200-111071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:111065200-111071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:111065200-111077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:111065200-111077400	Weak transcription	Fetal Kidney	kidney
25	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:111065400-111068400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:111065600-111068400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:111065600-111068400	Weak transcription	Fetal Lung	lung
29	chr13:111065600-111068800	Strong transcription	Fetal Intestine Small	intestine
30	chr13:111066000-111068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:111066000-111068800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:111066200-111071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:111066200-111073000	Weak transcription	A549	lung
34	chr13:111066800-111068400	Strong transcription	HSMM	muscle
35	chr13:111067000-111069000	Strong transcription	HUVEC	blood vessel
36	chr13:111067200-111069800	Strong transcription	NH-A	brain
37	chr13:111067400-111068600	Enhancers	Aorta	Aorta
38	chr13:111067400-111068800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr13:111067400-111075200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:111067600-111068400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:111067800-111068400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr13:111067800-111068600	Genic enhancers	Rectal Smooth Muscle	rectum
43	chr13:111067800-111068600	Enhancers	HMEC	breast
44	chr13:111067800-111068800	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr13:111067800-111068800	Genic enhancers	NHEK	skin
46	chr13:111067800-111070200	Enhancers	Placenta	Placenta
47	chr13:111068000-111068400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:111068000-111068400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:111068000-111068400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:111068000-111068400	Strong transcription	Fetal Stomach	stomach

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