Variant report

Variant	rs78268583
Chromosome Location	chr3:112930319-112930320
allele	A/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	YY1	chr3:112930223-112930458	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:112930269-112931663	MCF-7	breast:	n/a	n/a
3	ZBTB7A	chr3:112930278-112931512	ECC-1	luminal epithelium:	n/a	n/a
4	TAF1	chr3:112930209-112930580	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr3:112930225-112930536	HCT-116	colon:	n/a	n/a
6	POLR2A	chr3:112930291-112930586	ECC-1	luminal epithelium:	n/a	n/a
7	RAD21	chr3:112930252-112930556	SK-N-SH_RA	brain:	n/a	n/a
8	MAX	chr3:112930318-112930925	SK-N-SH	brain:	n/a	n/a
9	ZBTB7A	chr3:112930262-112931385	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr3:112930220-112930948	SK-N-SH	brain:	n/a	chr3:112930932-112930942 chr3:112930929-112930939
11	CTBP2	chr3:112929701-112931583	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:112930238-112931140	HEK293	kidney:	n/a	n/a
13	ZNF263	chr3:112929934-112932284	HEK293-T-REx	kidney:	n/a	chr3:112930315-112930336
14	POLR2A	chr3:112930161-112930508	U87	brain:	n/a	n/a
15	POLR2A	chr3:112930209-112931256	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr3:112930189-112930589	U87	brain:	n/a	n/a
17	MAFK	chr3:112929761-112930340	IMR90	lung:	n/a	chr3:112929935-112929950
18	MAX	chr3:112930224-112931782	A549	lung:	n/a	chr3:112930932-112930942 chr3:112930929-112930939
19	POLR2A	chr3:112930288-112930501	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr3:112929861-112932400	IMR90	lung:	n/a	chr3:112930932-112930942 chr3:112930929-112930939
21	POLR2A	chr3:112930133-112930598	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr3:112930165-112932061	IMR90	lung:	n/a	n/a
23	MAX	chr3:112930273-112931049	ECC-1	luminal epithelium:	n/a	chr3:112930932-112930942 chr3:112930929-112930939
24	YY1	chr3:112929475-112930575	H1-hESC	embryonic stem cell:	n/a	chr3:112930485-112930494 chr3:112930480-112930494 chr3:112930483-112930497 chr3:112930485-112930496
25	POLR2A	chr3:112929554-112930727	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr3:112930103-112931105	IMR90	lung:	n/a	chr3:112930113-112930123 chr3:112930964-112930978
27	POLR2A	chr3:112930270-112930476	HCT-116	colon:	n/a	n/a
28	POLR2A	chr3:112930089-112930965	Gliobla	brain:	n/a	n/a
29	SIN3A	chr3:112929169-112931694	H1-hESC	embryonic stem cell:	n/a	chr3:112929815-112929828 chr3:112930962-112930971
30	TBP	chr3:112930039-112930759	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr3:112930179-112930408	HCT-116	colon:	n/a	n/a
32	ZNF143	chr3:112929476-112930608	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr3:112930075-112930507	SK-N-SH	brain:	n/a	n/a
34	KAP1	chr3:112930107-112930888	HEK293	kidney:	n/a	n/a
35	POLR2A	chr3:112930262-112930496	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr3:112930141-112930616	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:112930208-112930670	MCF-7	breast:	n/a	n/a
38	EP300	chr3:112930168-112931388	ECC-1	luminal epithelium:	n/a	chr3:112930908-112930918 chr3:112930489-112930498 chr3:112930528-112930544 chr3:112930949-112930965
39	HA-E2F1	chr3:112930126-112931565	MCF-7	breast:	n/a	chr3:112930842-112930852 chr3:112930218-112930232 chr3:112930934-112930946 chr3:112930846-112930856 chr3:112930480-112930490 chr3:112930477-112930487 chr3:112931112-112931122
40	POLR2A	chr3:112930147-112931057	ProgFib	skin:	n/a	n/a
41	MXI1	chr3:112930140-112930463	H1-hESC	embryonic stem cell:	n/a	n/a

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
ENSG00000240057	Chromatin interaction
ENSG00000144857	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112929200-112930400	Flanking Active TSS	Fetal Muscle Leg	muscle
2	chr3:112929200-112931200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:112929200-112931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr3:112929200-112931400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:112929200-112931400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr3:112929200-112932000	Active TSS	Fetal Kidney	kidney
7	chr3:112929200-112932400	Active TSS	Brain Anterior Caudate	brain
8	chr3:112929400-112930400	Active TSS	Brain Hippocampus Middle	brain
9	chr3:112929400-112931200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr3:112929400-112931200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:112929400-112931200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:112929400-112931200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
13	chr3:112929400-112931400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:112929400-112931600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:112929400-112931600	Active TSS	NH-A	brain
16	chr3:112929400-112931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:112929400-112932400	Active TSS	Brain Substantia Nigra	brain
18	chr3:112929400-112932400	Active TSS	Ovary	ovary
19	chr3:112929400-112932400	Active TSS	NHDF-Ad	bronchial
20	chr3:112929600-112930400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr3:112929600-112931200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:112929600-112931200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:112929600-112931200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr3:112929600-112931200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:112929600-112931200	Active TSS	Right Ventricle	heart
26	chr3:112929600-112931400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr3:112929600-112931400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:112929600-112931400	Active TSS	Brain Angular Gyrus	brain
29	chr3:112929600-112931400	Active TSS	Fetal Lung	lung
30	chr3:112929600-112931400	Active TSS	HSMM	muscle
31	chr3:112929600-112931600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:112929600-112931600	Active TSS	Osteobl	bone
33	chr3:112929600-112931800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:112929600-112931800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr3:112929600-112932000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:112929600-112932200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:112929600-112932200	Active TSS	Right Atrium	heart
38	chr3:112929600-112932400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:112929600-112933200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr3:112929600-112934200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:112929800-112930400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:112929800-112930400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
43	chr3:112929800-112930400	Active TSS	Psoas Muscle	Psoas
44	chr3:112929800-112930800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:112929800-112930800	Bivalent/Poised TSS	Stomach Mucosa	stomach
46	chr3:112929800-112931200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:112929800-112931200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:112929800-112931200	Bivalent/Poised TSS	Fetal Thymus	thymus
49	chr3:112929800-112931200	Active TSS	Left Ventricle	heart
50	chr3:112929800-112931200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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