Variant report

Variant	rs370738734
Chromosome Location	chr3:112930092-112930093
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr3:112929701-112931583	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr3:112929934-112932284	HEK293-T-REx	kidney:	n/a	chr3:112930315-112930336
3	MAFK	chr3:112929761-112930340	IMR90	lung:	n/a	chr3:112929935-112929950
4	MAX	chr3:112929109-112930171	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr3:112929804-112930096	HepG2	liver:	n/a	chr3:112929935-112929950
6	MAZ	chr3:112929861-112932400	IMR90	lung:	n/a	chr3:112930932-112930942 chr3:112930929-112930939
7	E2F6	chr3:112929656-112930247	H1-hESC	embryonic stem cell:	n/a	chr3:112929671-112929680 chr3:112930218-112930232
8	YY1	chr3:112929475-112930575	H1-hESC	embryonic stem cell:	n/a	chr3:112930485-112930494 chr3:112930480-112930494 chr3:112930483-112930497 chr3:112930485-112930496
9	CHD1	chr3:112929934-112930238	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:112929554-112930727	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr3:112930089-112930965	Gliobla	brain:	n/a	n/a
12	SIN3A	chr3:112929169-112931694	H1-hESC	embryonic stem cell:	n/a	chr3:112929815-112929828 chr3:112930962-112930971
13	TBP	chr3:112930039-112930759	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr3:112929476-112930608	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:112930075-112930507	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr3:112929536-112930294	H1-hESC	embryonic stem cell:	n/a	chr3:112929671-112929680 chr3:112930218-112930232
17	CTCF	chr3:112930000-112930150	HMF	breast:	n/a	n/a
18	CTCF	chr3:112930080-112930230	AG09309	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:112930077-112930127	ProgFib	skin:	n/a
2	chr3:112930077-112930127	Caco-2	colon:	n/a
3	chr3:112930077-112930127	HUVEC	blood vessel:	n/a
4	chr3:112930077-112930127	PANC-1	pancreas:	n/a
5	chr3:112930077-112930127	CMK	blood:	n/a
6	chr3:112930077-112930127	HRE	kidney:	n/a
7	chr3:112930077-112930127	H1-hESC	embryonic stem cell:	embryo
8	chr3:112930077-112930127	Hepatocyte	liver:	n/a
9	chr3:112930077-112930127	HCM	heart:	n/a
10	chr3:112930077-112930127	AG10803	skin:	n/a
11	chr3:112930077-112930127	HPAEpiC	pulmonary alveolar:	n/a
12	chr3:112930077-112930127	ECC-1	luminal epithelium:	n/a
13	chr3:112930077-112930127	PrEC	prostate:	n/a
14	chr3:112930077-112930127	GM06990	blood:	n/a
15	chr3:112930077-112930127	RPTEC	kidney:	n/a
16	chr3:112930077-112930127	HIPEpiC	eye:	n/a
17	chr3:112930077-112930127	NH-A	brain:	n/a
18	chr3:112930077-112930127	PFSK-1	brain:	n/a
19	chr3:112930077-112930127	A549	lung:	n/a
20	chr3:112930077-112930127	HRCEpiC	kidney:	n/a
21	chr3:112930077-112930127	BE2_C	brain:	n/a
22	chr3:112930077-112930127	GM12891	blood:	n/a
23	chr3:112930077-112930127	HNPCEpiC	eye:	n/a
24	chr3:112930077-112930127	Hela-S3	cervix:	n/a
25	chr3:112930077-112930127	SK-N-SH_RA	brain:	n/a
26	chr3:112930077-112930127	AG09319	gingival:	n/a
27	chr3:112930077-112930127	GM12878	blood:	n/a
28	chr3:112930077-112930127	HEK293	kidney:	embryo
29	chr3:112930077-112930127	HCPEpiC	choroid plexus:	n/a
30	chr3:112930077-112930127	NT2-D1	testis:	n/a
31	chr3:112930077-112930127	HAEpiC	amniotic membrane:	n/a
32	chr3:112930077-112930127	HCT-116	colon:	n/a
33	chr3:112930077-112930127	AG04449	skin:	fetal
34	chr3:112930077-112930127	AG04450	lung:	fetal
35	chr3:112930077-112930127	HCF	heart:	n/a
36	chr3:112930077-112930127	NHBE	bronchial:	n/a
37	chr3:112930077-112930127	HMEC	breast:	n/a
38	chr3:112930077-112930127	LNCaP	prostate:	n/a
39	chr3:112930077-112930127	Jurkat	blood:	n/a
40	chr3:112930077-112930127	BJ	skin:	n/a
41	chr3:112930077-112930127	IMR90	lung:	fetal
42	chr3:112930077-112930127	NB4	blood:	n/a
43	chr3:112930077-112930127	U87	brain:	n/a
44	chr3:112930077-112930127	SK-N-MC	brain:	n/a
45	chr3:112930077-112930127	ovcar-3	ovarian:	n/a
46	chr3:112930077-112930127	AoSMC	blood vessel:	n/a
47	chr3:112930077-112930127	T-47D	breast:	n/a
48	chr3:112930077-112930127	GM19239	blood:	n/a
49	chr3:112930077-112930127	NHDF-neo	bronchial:	n/a
50	chr3:112930077-112930127	SAEC	small airway:	n/a

(count:3 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
BOC	TF binding region
BOC	CpG island
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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112929200-112930200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:112929200-112930200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:112929200-112930200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
4	chr3:112929200-112930400	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr3:112929200-112931200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:112929200-112931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:112929200-112931400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr3:112929200-112931400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr3:112929200-112932000	Active TSS	Fetal Kidney	kidney
10	chr3:112929200-112932400	Active TSS	Brain Anterior Caudate	brain
11	chr3:112929400-112930200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:112929400-112930200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:112929400-112930200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:112929400-112930400	Active TSS	Brain Hippocampus Middle	brain
15	chr3:112929400-112931200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr3:112929400-112931200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:112929400-112931200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:112929400-112931200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
19	chr3:112929400-112931400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:112929400-112931600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:112929400-112931600	Active TSS	NH-A	brain
22	chr3:112929400-112931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:112929400-112932400	Active TSS	Brain Substantia Nigra	brain
24	chr3:112929400-112932400	Active TSS	Ovary	ovary
25	chr3:112929400-112932400	Active TSS	NHDF-Ad	bronchial
26	chr3:112929600-112930200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:112929600-112930200	Active TSS	Colonic Mucosa	Colon
28	chr3:112929600-112930200	Enhancers	Fetal Heart	heart
29	chr3:112929600-112930200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr3:112929600-112930200	Flanking Active TSS	Placenta	Placenta
31	chr3:112929600-112930200	Bivalent/Poised TSS	Thymus	Thymus
32	chr3:112929600-112930400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr3:112929600-112931200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr3:112929600-112931200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:112929600-112931200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:112929600-112931200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:112929600-112931200	Active TSS	Right Ventricle	heart
38	chr3:112929600-112931400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:112929600-112931400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:112929600-112931400	Active TSS	Brain Angular Gyrus	brain
41	chr3:112929600-112931400	Active TSS	Fetal Lung	lung
42	chr3:112929600-112931400	Active TSS	HSMM	muscle
43	chr3:112929600-112931600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:112929600-112931600	Active TSS	Osteobl	bone
45	chr3:112929600-112931800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:112929600-112931800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr3:112929600-112932000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:112929600-112932200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:112929600-112932200	Active TSS	Right Atrium	heart
50	chr3:112929600-112932400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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