Variant report

Variant	rs7994799
Chromosome Location	chr13:110956704-110956705
allele	C/T
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	chr13:110956649-110961690	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr13:110956434-110962224	IMR90	lung:	n/a	n/a
3	POLR2A	chr13:110953431-110965799	IMR90	lung:	n/a	n/a
4	CHD1	chr13:110951969-110962894	IMR90	lung:	n/a	chr13:110960921-110960931 chr13:110960926-110960936 chr13:110959544-110959554
5	POLR2A	chr13:110956456-110956843	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110955529..110957160-chr13:110983247..110985626,2	MCF-7	breast:
2	chr13:110948351..110950288-chr13:110954842..110957509,2	K562	blood:

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs545054	1.00[AMR][1000 genomes]
rs6492272	1.00[AMR][1000 genomes]
rs9301433	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523051	chr13:110951315-110966349	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv563104	chr13:110951487-110960255	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110936200-110958800	Weak transcription	Gastric	stomach
2	chr13:110949400-110956800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:110951600-110957000	Weak transcription	Fetal Intestine Small	intestine
4	chr13:110951600-110957200	Enhancers	Ovary	ovary
5	chr13:110951800-110957200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:110951800-110957200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:110951800-110957400	Weak transcription	Colonic Mucosa	Colon
8	chr13:110951800-110958200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:110951800-110958400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110952000-110958200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:110953400-110956800	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr13:110953600-110957000	Enhancers	Right Atrium	heart
13	chr13:110953800-110957000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:110954200-110958400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:110954400-110957000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:110954400-110957000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:110954400-110957600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:110954800-110957200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:110954800-110957800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:110955000-110956800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:110955000-110956800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:110955000-110958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:110955400-110957800	Enhancers	A549	lung
24	chr13:110955600-110957000	Enhancers	Pancreas	Pancrea
25	chr13:110955600-110957600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr13:110955600-110957600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr13:110955800-110956800	Weak transcription	Lung	lung
28	chr13:110955800-110956800	Genic enhancers	Osteobl	bone
29	chr13:110955800-110957400	Enhancers	Fetal Heart	heart
30	chr13:110955800-110957400	Genic enhancers	HSMM	muscle
31	chr13:110955800-110957600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:110956000-110957600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
33	chr13:110956200-110956800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:110956200-110957000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
35	chr13:110956200-110957000	Enhancers	NHLF	lung
36	chr13:110956200-110957200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:110956200-110957200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr13:110956200-110957200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:110956200-110957400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr13:110956200-110957800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:110956200-110958000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:110956200-110958000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:110956200-110958200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:110956200-110958600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:110956200-110959000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr13:110956200-110959800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr13:110956400-110956800	Flanking Active TSS	Fetal Kidney	kidney
48	chr13:110956400-110956800	Enhancers	Fetal Lung	lung
49	chr13:110956400-110957200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:110956400-110957800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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