Variant report

Variant	rs7636067
Chromosome Location	chr3:112738905-112738906
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	POLR2A	chr3:112737749-112739026	U87	brain:	n/a	n/a
2	RCOR1	chr3:112738274-112739024	K562	blood:	n/a	n/a
3	GABPA	chr3:112737831-112738916	MCF-7	breast:	n/a	chr3:112738311-112738320 chr3:112738262-112738271
4	POLR2A	chr3:112737668-112738999	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr3:112737347-112738913	GM12878	blood:	n/a	n/a
6	MAX	chr3:112737888-112739033	MCF-7	breast:	n/a	chr3:112738310-112738320
7	POLR2A	chr3:112737210-112739083	SK-N-MC	brain:	n/a	n/a
8	MAX	chr3:112737842-112739103	HepG2	liver:	n/a	chr3:112738310-112738320
9	POLR2A	chr3:112736649-112739006	GM12878	blood:	n/a	n/a
10	RUNX3	chr3:112738005-112739166	GM12878	blood:	n/a	n/a
11	MXI1	chr3:112736597-112739325	SK-N-SH	brain:	n/a	n/a
12	MYC	chr3:112737773-112739493	A549	lung:	n/a	chr3:112738310-112738320
13	GABPA	chr3:112737790-112738962	MCF-7	breast:	n/a	chr3:112738311-112738320 chr3:112738262-112738271
14	E2F6	chr3:112738118-112738980	H1-hESC	embryonic stem cell:	n/a	chr3:112738607-112738617
15	MYC	chr3:112737716-112739051	K562	blood:	n/a	chr3:112738310-112738320
16	MAX	chr3:112738078-112739044	A549	lung:	n/a	chr3:112738310-112738320
17	MAX	chr3:112738007-112739012	SK-N-SH	brain:	n/a	chr3:112738310-112738320
18	MAX	chr3:112737788-112739146	A549	lung:	n/a	chr3:112738310-112738320
19	TBL1XR1	chr3:112737835-112738913	GM12878	blood:	n/a	n/a
20	BCL3	chr3:112738092-112738936	A549	lung:	n/a	n/a
21	POLR2A	chr3:112737427-112738942	Raji	blood:	n/a	n/a
22	MAX	chr3:112737870-112739033	NB4	blood:	n/a	chr3:112738310-112738320
23	MYC	chr3:112737747-112739063	NB4	blood:	n/a	chr3:112738310-112738320
24	MAX	chr3:112737882-112739080	H1-hESC	embryonic stem cell:	n/a	chr3:112738310-112738320
25	POLR2A	chr3:112737204-112738960	GM12892	blood:	n/a	n/a
26	SP1	chr3:112738043-112739011	A549	lung:	n/a	chr3:112738591-112738603 chr3:112738588-112738602 chr3:112738309-112738321 chr3:112738113-112738122 chr3:112738604-112738613 chr3:112738309-112738321 chr3:112738592-112738602 chr3:112738311-112738320 chr3:112738592-112738602 chr3:112738310-112738319 chr3:112738310-112738324 chr3:112738591-112738603 chr3:112738581-112738595 chr3:112738310-112738320 chr3:112738593-112738602 chr3:112738111-112738123 chr3:112738592-112738601
27	MAX	chr3:112738137-112739061	GM12878	blood:	n/a	chr3:112738310-112738320
28	E2F6	chr3:112738098-112739018	A549	lung:	n/a	chr3:112738607-112738617
29	ELF1	chr3:112737950-112739000	MCF-7	breast:	n/a	chr3:112738012-112738023
30	ELK4	chr3:112738269-112738990	Hela-S3	cervix:	n/a	n/a
31	EGR1	chr3:112737846-112738946	HCT-116	colon:	n/a	chr3:112738113-112738128 chr3:112738114-112738127 chr3:112738307-112738316 chr3:112738114-112738127 chr3:112738303-112738317
32	POLR2A	chr3:112738045-112738927	PFSK-1	brain:	n/a	n/a
33	MYBL2	chr3:112737931-112738922	HepG2	liver:	n/a	n/a
34	MYC	chr3:112738447-112739071	MCF10A-Er-Src	breast:	n/a	n/a
35	CHD2	chr3:112738080-112738915	K562	blood:	n/a	n/a
36	TCF12	chr3:112737857-112739021	A549	lung:	n/a	n/a
37	CREB1	chr3:112737788-112738905	HepG2	liver:	n/a	n/a
38	REST	chr3:112737244-112739184	H1-neurons	neurons:	n/a	chr3:112738589-112738602
39	RFX5	chr3:112738196-112738956	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:112737531-112739025	HepG2	liver:	n/a	n/a
41	POLR2A	chr3:112737289-112738993	GM12891	blood:	n/a	n/a
42	MXI1	chr3:112737350-112738955	GM12878	blood:	n/a	n/a
43	RELA	chr3:112737291-112739103	GM12891	blood:	n/a	n/a
44	MAX	chr3:112737911-112739132	A549	lung:	n/a	chr3:112738310-112738320
45	MAX	chr3:112737968-112738918	Hela-S3	cervix:	n/a	chr3:112738310-112738320
46	POLR2A	chr3:112737287-112738971	GM12892	blood:	n/a	n/a
47	MAFK	chr3:112738169-112738997	K562	blood:	n/a	n/a
48	JUN	chr3:112737946-112739013	K562	blood:	n/a	n/a
49	MAX	chr3:112737880-112738955	HepG2	liver:	n/a	chr3:112738310-112738320
50	SIN3AK20	chr3:112737718-112739046	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:112726403..112732813-chr3:112735056..112739637,9	MCF-7	breast:
2	chr3:112709706..112712038-chr3:112736780..112739124,2	MCF-7	breast:
3	chr3:112358697..112360499-chr3:112735766..112739410,3	MCF-7	breast:
4	chr3:112727442..112729984-chr3:112737783..112739677,2	MCF-7	breast:
5	chr3:112730174..112733803-chr3:112737181..112739606,5	MCF-7	breast:
6	chr3:112358680..112360592-chr3:112737016..112739347,2	MCF-7	breast:
7	chr3:112737944..112740909-chr3:112760087..112762982,2	MCF-7	breast:
8	chr3:112708559..112710573-chr3:112736590..112739999,3	K562	blood:

Variant related genes	Relation type
C3orf17	TF binding region
ENSG00000163608	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000243483	Chromatin interaction
ENSG00000163607	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16860357	0.87[EUR][1000 genomes]
rs57916867	0.81[AMR][1000 genomes]
rs61438638	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72952172	0.81[AMR][1000 genomes]
rs73854001	0.81[EUR][1000 genomes]
rs73857303	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73857305	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73857307	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73857326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7644174	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv1843165	chr3:112628205-112740145	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr3:112736600-112739000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:112737000-112739000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:112737000-112739000	Active TSS	Psoas Muscle	Psoas
4	chr3:112737000-112739000	Active TSS	Right Ventricle	heart
5	chr3:112737000-112739200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:112737000-112739200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:112737000-112739200	Active TSS	Fetal Muscle Trunk	muscle
8	chr3:112737200-112739000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:112737200-112739000	Active TSS	Aorta	Aorta
10	chr3:112737200-112739000	Active TSS	Colonic Mucosa	Colon
11	chr3:112737200-112739200	Active TSS	Right Atrium	heart
12	chr3:112737200-112739200	Active TSS	A549	lung
13	chr3:112737200-112739200	Active TSS	HSMM	muscle
14	chr3:112737400-112739000	Active TSS	Fetal Brain Female	brain
15	chr3:112737400-112739000	Active TSS	Left Ventricle	heart
16	chr3:112737400-112739000	Active TSS	Lung	lung
17	chr3:112737400-112739000	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr3:112737400-112739200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:112737400-112739200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:112737400-112739200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:112737400-112739200	Active TSS	Fetal Brain Male	brain
22	chr3:112737600-112739000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:112737600-112739000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr3:112737600-112739000	Active TSS	Esophagus	oesophagus
25	chr3:112737600-112739000	Active TSS	Gastric	stomach
26	chr3:112737600-112739000	Active TSS	Ovary	ovary
27	chr3:112737800-112739000	Active TSS	Brain Anterior Caudate	brain
28	chr3:112737800-112739000	Active TSS	Thymus	Thymus
29	chr3:112737800-112739200	Active TSS	NH-A	brain
30	chr3:112737800-112739400	Active TSS	Brain Germinal Matrix	brain
31	chr3:112738000-112739200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:112738000-112739200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:112738400-112739200	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr3:112738400-112739200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr3:112738600-112739000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:112738600-112739000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:112738600-112739000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr3:112738600-112739000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:112738600-112739000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr3:112738600-112739000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:112738600-112739000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:112738600-112739000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:112738600-112739000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr3:112738600-112739000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr3:112738600-112739000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr3:112738600-112739000	Flanking Active TSS	Placenta	Placenta
47	chr3:112738600-112739000	Flanking Active TSS	HepG2	liver
48	chr3:112738600-112739000	Flanking Active TSS	HMEC	breast
49	chr3:112738600-112739000	Flanking Active TSS	HUVEC	blood vessel
50	chr3:112738600-112739200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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