Variant report

Variant	rs572848614
Chromosome Location	chr3:112929980-112929981
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	MAFK	chr3:112929822-112930041	HepG2	liver:	n/a	chr3:112929935-112929950
2	CTBP2	chr3:112929701-112931583	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr3:112929934-112932284	HEK293-T-REx	kidney:	n/a	chr3:112930315-112930336
4	YY1	chr3:112929650-112930052	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr3:112929761-112930340	IMR90	lung:	n/a	chr3:112929935-112929950
6	MAX	chr3:112929109-112930171	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr3:112929804-112930096	HepG2	liver:	n/a	chr3:112929935-112929950
8	MAFF	chr3:112929887-112930074	HepG2	liver:	n/a	chr3:112929933-112929951
9	MAZ	chr3:112929861-112932400	IMR90	lung:	n/a	chr3:112930932-112930942 chr3:112930929-112930939
10	E2F6	chr3:112929656-112930247	H1-hESC	embryonic stem cell:	n/a	chr3:112929671-112929680 chr3:112930218-112930232
11	YY1	chr3:112929475-112930575	H1-hESC	embryonic stem cell:	n/a	chr3:112930485-112930494 chr3:112930480-112930494 chr3:112930483-112930497 chr3:112930485-112930496
12	CHD1	chr3:112929934-112930238	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:112929554-112930727	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr3:112929169-112931694	H1-hESC	embryonic stem cell:	n/a	chr3:112929815-112929828 chr3:112930962-112930971
15	ZNF143	chr3:112929476-112930608	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr3:112929536-112930294	H1-hESC	embryonic stem cell:	n/a	chr3:112929671-112929680 chr3:112930218-112930232

No.	Distal block	Cell Line	Cell type
1	chr3:112929722..112932026-chr3:112933958..112936481,2	K562	blood:
2	chr3:112929165..112932026-chr3:112933299..112935458,2	K562	blood:
3	chr3:112875811..112877981-chr3:112929321..112930900,2	MCF-7	breast:

Variant related genes	Relation type
BOC	TF binding region
ENSG00000144857	Chromatin interaction
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877346	chr3:112893640-112938683	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv877347	chr3:112895679-112934752	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv3394751	chr3:112928562-112932960	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3423811	chr3:112929687-112932635	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr3:112929000-112930000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr3:112929200-112930000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr3:112929200-112930000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr3:112929200-112930000	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr3:112929200-112930200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:112929200-112930200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:112929200-112930200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
8	chr3:112929200-112930400	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr3:112929200-112931200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:112929200-112931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr3:112929200-112931400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr3:112929200-112931400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr3:112929200-112932000	Active TSS	Fetal Kidney	kidney
14	chr3:112929200-112932400	Active TSS	Brain Anterior Caudate	brain
15	chr3:112929400-112930200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:112929400-112930200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:112929400-112930200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:112929400-112930400	Active TSS	Brain Hippocampus Middle	brain
19	chr3:112929400-112931200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr3:112929400-112931200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:112929400-112931200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr3:112929400-112931200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
23	chr3:112929400-112931400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:112929400-112931600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:112929400-112931600	Active TSS	NH-A	brain
26	chr3:112929400-112931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:112929400-112932400	Active TSS	Brain Substantia Nigra	brain
28	chr3:112929400-112932400	Active TSS	Ovary	ovary
29	chr3:112929400-112932400	Active TSS	NHDF-Ad	bronchial
30	chr3:112929600-112930000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr3:112929600-112930000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:112929600-112930000	Active TSS	Brain Germinal Matrix	brain
33	chr3:112929600-112930000	Active TSS	Rectal Smooth Muscle	rectum
34	chr3:112929600-112930000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:112929600-112930200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:112929600-112930200	Active TSS	Colonic Mucosa	Colon
37	chr3:112929600-112930200	Enhancers	Fetal Heart	heart
38	chr3:112929600-112930200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr3:112929600-112930200	Flanking Active TSS	Placenta	Placenta
40	chr3:112929600-112930200	Bivalent/Poised TSS	Thymus	Thymus
41	chr3:112929600-112930400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr3:112929600-112931200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:112929600-112931200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:112929600-112931200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr3:112929600-112931200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:112929600-112931200	Active TSS	Right Ventricle	heart
47	chr3:112929600-112931400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr3:112929600-112931400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:112929600-112931400	Active TSS	Brain Angular Gyrus	brain
50	chr3:112929600-112931400	Active TSS	Fetal Lung	lung

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