Variant report

Variant	rs9555708
Chromosome Location	chr13:111127141-111127142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:111127010-111127357	A549	lung:	n/a	n/a
2	PBX3	chr13:111126925-111127534	GM12878	blood:	n/a	n/a
3	MAX	chr13:111127070-111127640	K562	blood:	n/a	n/a
4	POLR2A	chr13:111126876-111127400	MCF-7	breast:	n/a	n/a
5	MTA3	chr13:111126894-111127446	GM12878	blood:	n/a	n/a
6	STAT5A	chr13:111127020-111127498	GM12878	blood:	n/a	n/a
7	POLR2A	chr13:111126905-111127170	Gliobla	brain:	n/a	n/a
8	STAT5A	chr13:111126887-111127497	GM12878	blood:	n/a	n/a
9	CTCF	chr13:111127117-111127238	GM12892	blood:	n/a	n/a
10	CTCF	chr13:111127056-111127177	MCF-7	breast:	n/a	n/a
11	MYC	chr13:111127003-111127272	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:111127096-111127162	NHEK	skin:	n/a	n/a
13	NFATC1	chr13:111126736-111127761	GM12878	blood:	n/a	n/a
14	CTCF	chr13:111126858-111127460	GM19239	blood:	n/a	n/a
15	MYC	chr13:111126957-111127325	MCF-7	breast:	n/a	chr13:111126984-111126994
16	TCF3	chr13:111126867-111127601	GM12878	blood:	n/a	n/a
17	BCL3	chr13:111126786-111127625	GM12878	blood:	n/a	n/a
18	BCL3	chr13:111126909-111127591	GM12878	blood:	n/a	n/a
19	SUZ12	chr13:111126820-111127445	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr13:111126878-111127334	NB4	blood:	n/a	chr13:111126934-111126944 chr13:111126984-111126994
21	MYC	chr13:111126989-111127376	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:111127104-111127150	MCF-7	breast:	n/a	n/a
23	BHLHE40	chr13:111126884-111127576	K562	blood:	n/a	n/a
24	POLR2A	chr13:111126864-111127287	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr13:111126922-111127416	MCF-7	breast:	n/a	n/a
26	POLR2A	chr13:111126968-111127368	HUVEC	blood vessel:	n/a	n/a
27	MYC	chr13:111127124-111127147	MCF-7	breast:	n/a	n/a
28	NFATC1	chr13:111126738-111127606	GM12878	blood:	n/a	n/a
29	NR2C2	chr13:111126894-111127543	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111125375..111127376-chr13:111131017..111133682,2	K562	blood:

No data

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3383351	chr13:111126663-111127421	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	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
12	esv5327	chr13:111126825-111127237	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3445063	chr13:111126972-111127191	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3449032	chr13:111127019-111127225	Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 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	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
10	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
11	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
13	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
14	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
18	chr13:111109600-111158800	Strong transcription	Ovary	ovary
19	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
22	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
23	chr13:111116200-111130400	Weak transcription	Psoas Muscle	Psoas
24	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:111117800-111130200	Strong transcription	Left Ventricle	heart
26	chr13:111118000-111127800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:111118200-111129200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:111119000-111127200	Weak transcription	Brain Substantia Nigra	brain
29	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
30	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
33	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:111119600-111129000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
37	chr13:111119800-111129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:111122000-111127200	Strong transcription	Gastric	stomach
39	chr13:111122400-111129200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr13:111123200-111127200	Strong transcription	Placenta	Placenta
41	chr13:111123200-111128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:111123200-111129200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:111123800-111127800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr13:111124200-111130400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:111124200-111131400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:111124200-111137400	Strong transcription	NH-A	brain
47	chr13:111124200-111144600	Weak transcription	Liver	Liver
48	chr13:111124400-111128000	Strong transcription	HUVEC	blood vessel
49	chr13:111124400-111136200	Strong transcription	HSMM	muscle
50	chr13:111124400-111139000	Strong transcription	Muscle Satellite Cultured Cells	--

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