Variant report

Variant	rs4326915
Chromosome Location	chr13:111127865-111127866
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	SPI1	chr13:111127700-111128370	GM12878	blood:	n/a	chr13:111128014-111128023
2	NFATC1	chr13:111127771-111128362	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:111127748-111128041	HUVEC	blood vessel:	n/a	n/a
4	ATF2	chr13:111127530-111128391	GM12878	blood:	n/a	n/a
5	CREB1	chr13:111127813-111128284	GM12878	blood:	n/a	n/a
6	FOXM1	chr13:111127781-111128441	GM12878	blood:	n/a	n/a
7	CEBPB	chr13:111127742-111128470	GM12878	blood:	n/a	n/a
8	MTA3	chr13:111127790-111128620	GM12878	blood:	n/a	n/a
9	PML	chr13:111127767-111128811	GM12878	blood:	n/a	n/a
10	MTA3	chr13:111127239-111128283	GM12878	blood:	n/a	n/a
11	NFIC	chr13:111127623-111128416	GM12878	blood:	n/a	n/a
12	FOXM1	chr13:111127739-111128372	GM12878	blood:	n/a	n/a
13	RUNX3	chr13:111127732-111128360	GM12878	blood:	n/a	n/a
14	RUNX3	chr13:111127863-111128302	GM12878	blood:	n/a	n/a
15	STAT5A	chr13:111127809-111128481	GM12878	blood:	n/a	chr13:111128012-111128023

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11617206	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2281970	1.00[ASN][1000 genomes]
rs2281972	0.98[ASN][1000 genomes]
rs2281973	1.00[ASN][1000 genomes]
rs2281974	0.82[ASN][1000 genomes]
rs4569124	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4773191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4773192	0.97[ASN][1000 genomes]
rs9521797	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521798	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521799	1.00[ASN][1000 genomes]
rs9521801	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9559818	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	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
5	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
6	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
7	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
8	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
9	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
10	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

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	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
5	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
6	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
9	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
10	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
12	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
13	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
17	chr13:111109600-111158800	Strong transcription	Ovary	ovary
18	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
21	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
22	chr13:111116200-111130400	Weak transcription	Psoas Muscle	Psoas
23	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:111117800-111130200	Strong transcription	Left Ventricle	heart
25	chr13:111118200-111129200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
27	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
30	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:111119600-111129000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
34	chr13:111119800-111129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:111122400-111129200	Strong transcription	Rectal Smooth Muscle	rectum
36	chr13:111123200-111128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:111123200-111129200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr13:111124200-111130400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:111124200-111131400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:111124200-111137400	Strong transcription	NH-A	brain
41	chr13:111124200-111144600	Weak transcription	Liver	Liver
42	chr13:111124400-111128000	Strong transcription	HUVEC	blood vessel
43	chr13:111124400-111136200	Strong transcription	HSMM	muscle
44	chr13:111124400-111139000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr13:111124400-111152000	Strong transcription	Osteobl	bone
46	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:111124600-111129400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:111124600-111131400	Strong transcription	NHLF	lung
49	chr13:111125200-111129400	Strong transcription	Adipose Nuclei	Adipose
50	chr13:111125200-111136800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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