Variant report

Variant	rs7326522
Chromosome Location	chr13:111077450-111077451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:111077147-111078227	IMR90	lung:	n/a	n/a
2	RCOR1	chr13:111076978-111078500	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4486743	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657919	1.00[ASN][1000 genomes]
rs72657920	0.92[ASN][1000 genomes]
rs72657923	0.92[ASN][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:111068400-111088600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111068600-111078000	Weak transcription	Pancreas	Pancrea
8	chr13:111068600-111082800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:111068600-111086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr13:111068800-111080800	Weak transcription	Fetal Intestine Large	intestine
11	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:111070400-111078600	Enhancers	HUVEC	blood vessel
13	chr13:111070400-111085400	Weak transcription	Psoas Muscle	Psoas
14	chr13:111070600-111083000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:111071400-111078400	Enhancers	Placenta	Placenta
16	chr13:111071800-111082400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:111072000-111078600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:111072000-111085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:111072200-111082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:111072600-111077800	Weak transcription	Fetal Intestine Small	intestine
21	chr13:111073200-111078200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:111073400-111082800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:111073800-111077800	Weak transcription	A549	lung
24	chr13:111073800-111078000	Weak transcription	Fetal Lung	lung
25	chr13:111074000-111083000	Weak transcription	Spleen	Spleen
26	chr13:111074200-111083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:111074800-111078400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr13:111075400-111077600	Weak transcription	HSMM	muscle
29	chr13:111075400-111082200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:111075400-111082200	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:111075400-111083200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:111075400-111083200	Weak transcription	NHDF-Ad	bronchial
33	chr13:111076000-111078400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:111076000-111079400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:111076000-111082800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:111076200-111077600	Weak transcription	HMEC	breast
37	chr13:111076200-111078200	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr13:111076200-111083200	Weak transcription	Esophagus	oesophagus
39	chr13:111076200-111084000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:111076400-111077600	Weak transcription	Lung	lung
41	chr13:111076400-111082200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:111076400-111083000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:111076600-111078000	Weak transcription	Fetal Heart	heart
44	chr13:111076600-111085000	Strong transcription	Osteobl	bone
45	chr13:111076600-111094600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:111076800-111078800	Strong transcription	Adipose Nuclei	Adipose
47	chr13:111077000-111077800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:111077000-111078000	Genic enhancers	Fetal Stomach	stomach
49	chr13:111077000-111078000	Strong transcription	Ovary	ovary
50	chr13:111077000-111078200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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