Variant report

Variant	rs9588179
Chromosome Location	chr13:111125747-111125748
allele	A/C
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	RFX5	chr13:111125620-111125865	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111125375..111127376-chr13:111131017..111133682,2	K562	blood:
2	chr13:111123294..111125798-chr13:111130475..111133407,2	K562	blood:
3	chr13:111123579..111125936-chr13:111162097..111164181,2	K562	blood:

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11619108	1.00[JPT][hapmap]
rs4332629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs74124606	1.00[ASN][1000 genomes]
rs74124609	1.00[ASN][1000 genomes]
rs74124618	1.00[ASN][1000 genomes]
rs9555688	1.00[JPT][hapmap]
rs9588178	0.84[AMR][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	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
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3338795	chr13:111125251-111129449	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
6	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
7	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:111108400-111126800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
12	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
13	chr13:111108800-111126800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:111108800-111126800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:111108800-111126800	Weak transcription	Fetal Heart	heart
16	chr13:111108800-111126800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:111108800-111127000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
20	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
21	chr13:111109000-111126800	Weak transcription	A549	lung
22	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
26	chr13:111109600-111158800	Strong transcription	Ovary	ovary
27	chr13:111109800-111126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:111112000-111127000	Weak transcription	Esophagus	oesophagus
31	chr13:111113000-111126800	Strong transcription	Lung	lung
32	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
33	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
34	chr13:111116200-111130400	Weak transcription	Psoas Muscle	Psoas
35	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:111117400-111127000	Strong transcription	Fetal Lung	lung
37	chr13:111117800-111130200	Strong transcription	Left Ventricle	heart
38	chr13:111118000-111127800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr13:111118200-111129200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:111118800-111127000	Weak transcription	Fetal Brain Male	brain
41	chr13:111119000-111127200	Weak transcription	Brain Substantia Nigra	brain
42	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
43	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr13:111119200-111126800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
47	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:111119600-111129000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain

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