Variant report

Variant	rs10042564
Chromosome Location	chr5:36606323-36606324
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	GTF3C2	chr5:36606189-36607710	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr5:36606130-36607472	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36607440-36607448 chr5:36606626-36606637 chr5:36606641-36606653
3	MYC	chr5:36606294-36608545	MCF10A-Er-Src	breast:	n/a	chr5:36608255-36608266 chr5:36608257-36608266 chr5:36608247-36608263 chr5:36606708-36606718 chr5:36608252-36608267
4	STAT3	chr5:36606131-36607427	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36606626-36606637 chr5:36606641-36606653
5	MAX	chr5:36606284-36607697	HCT-116	colon:	n/a	chr5:36606708-36606718
6	STAT3	chr5:36605865-36607753	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36607440-36607448 chr5:36606626-36606637 chr5:36606641-36606653
7	POLR2A	chr5:36606275-36607639	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr5:36606323-36606990	SK-N-MC	brain:	n/a	n/a
9	ZNF263	chr5:36605965-36607640	HEK293-T-REx	kidney:	n/a	chr5:36606662-36606671 chr5:36606629-36606650 chr5:36606612-36606621
10	POLR2A	chr5:36606300-36607698	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:36606249-36607580	U87	brain:	n/a	n/a
12	CEBPB	chr5:36606309-36607740	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr5:36606267-36607563	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:36606295-36607459	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr5:36606189-36607535	NB4	blood:	n/a	chr5:36606708-36606718
16	MYC	chr5:36606255-36607536	NB4	blood:	n/a	chr5:36606708-36606718
17	STAT3	chr5:36606125-36607637	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36607440-36607448 chr5:36606626-36606637 chr5:36606641-36606653
18	POLR2A	chr5:36606248-36607570	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr5:36606255-36607574	U87	brain:	n/a	n/a
20	STAT3	chr5:36606173-36606894	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36606626-36606637 chr5:36606641-36606653
21	KAP1	chr5:36606114-36607544	HEK293	kidney:	n/a	n/a
22	GTF2F1	chr5:36606272-36607592	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36606293-36606343	GM19239	blood:	n/a
2	chr5:36606293-36606343	BJ	skin:	n/a
3	chr5:36606293-36606343	PFSK-1	brain:	n/a
4	chr5:36606288-36606338	HUVEC	blood vessel:	n/a
5	chr5:36606293-36606343	LNCaP	prostate:	n/a
6	chr5:36606288-36606338	U87	brain:	n/a
7	chr5:36606288-36606338	BJ	skin:	n/a
8	chr5:36606288-36606338	HPAEpiC	pulmonary alveolar:	n/a
9	chr5:36606293-36606343	NT2-D1	testis:	n/a
10	chr5:36606293-36606343	H1-hESC	embryonic stem cell:	embryo
11	chr5:36606288-36606338	HCPEpiC	choroid plexus:	n/a
12	chr5:36606293-36606343	HCM	heart:	n/a
13	chr5:36606288-36606338	NHBE	bronchial:	n/a
14	chr5:36606288-36606338	A549	lung:	n/a
15	chr5:36606288-36606338	HCM	heart:	n/a
16	chr5:36606288-36606338	ovcar-3	ovarian:	n/a
17	chr5:36606293-36606343	AoSMC	blood vessel:	n/a
18	chr5:36606288-36606338	K562	blood:	n/a
19	chr5:36606288-36606338	HEEpiC	esophagus:	n/a
20	chr5:36606293-36606343	U87	brain:	n/a
21	chr5:36606293-36606343	HEK293	kidney:	embryo
22	chr5:36606293-36606343	HPAEpiC	pulmonary alveolar:	n/a
23	chr5:36606293-36606343	NHDF-neo	bronchial:	n/a
24	chr5:36606288-36606338	AG10803	skin:	n/a
25	chr5:36606293-36606343	SAEC	small airway:	n/a
26	chr5:36606293-36606343	HIPEpiC	eye:	n/a
27	chr5:36606293-36606343	GM06990	blood:	n/a
28	chr5:36606288-36606338	BE2_C	brain:	n/a
29	chr5:36606288-36606338	HNPCEpiC	eye:	n/a
30	chr5:36606293-36606343	PANC-1	pancreas:	n/a
31	chr5:36606293-36606343	HAEpiC	amniotic membrane:	n/a
32	chr5:36606288-36606338	PANC-1	pancreas:	n/a
33	chr5:36606293-36606343	AG04450	lung:	fetal
34	chr5:36606288-36606338	PrEC	prostate:	n/a
35	chr5:36606288-36606338	GM06990	blood:	n/a
36	chr5:36606293-36606343	HCT-116	colon:	n/a
37	chr5:36606288-36606338	HEK293	kidney:	embryo
38	chr5:36606288-36606338	ECC-1	luminal epithelium:	n/a
39	chr5:36606288-36606338	GM12878	blood:	n/a
40	chr5:36606293-36606343	AG04449	skin:	fetal
41	chr5:36606288-36606338	HRCEpiC	kidney:	n/a
42	chr5:36606293-36606343	Jurkat	blood:	n/a
43	chr5:36606293-36606343	NB4	blood:	n/a
44	chr5:36606288-36606338	T-47D	breast:	n/a
45	chr5:36606293-36606343	SKMC	muscle:	n/a
46	chr5:36606288-36606338	GM12892	blood:	n/a
47	chr5:36606288-36606338	AG09319	gingival:	n/a
48	chr5:36606293-36606343	T-47D	breast:	n/a
49	chr5:36606288-36606338	NHDF-neo	bronchial:	n/a
50	chr5:36606288-36606338	HCT-116	colon:	n/a

Variant related genes	Relation type
SLC1A3	TF binding region
SLC1A3	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3431472	chr5:36606135-36606380	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36604800-36612000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:36605400-36606400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:36605400-36606400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:36605400-36607000	Bivalent/Poised TSS	Fetal Brain Male	brain
5	chr5:36605400-36608200	Active TSS	NHDF-Ad	bronchial
6	chr5:36605400-36608400	Active TSS	Brain Anterior Caudate	brain
7	chr5:36605400-36612800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:36605600-36608600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:36605600-36609800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:36605600-36609800	Active TSS	Brain Hippocampus Middle	brain
11	chr5:36605800-36606400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:36605800-36607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:36605800-36608000	Active TSS	Fetal Muscle Leg	muscle
14	chr5:36605800-36608200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:36605800-36608200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:36605800-36608600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:36605800-36611200	Active TSS	Right Atrium	heart
18	chr5:36606000-36606400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:36606000-36606400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:36606000-36606400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr5:36606000-36606400	Flanking Active TSS	Fetal Brain Female	brain
22	chr5:36606000-36606400	Flanking Active TSS	Fetal Stomach	stomach
23	chr5:36606000-36606400	Flanking Active TSS	NH-A	brain
24	chr5:36606000-36606600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:36606000-36606600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr5:36606000-36606600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:36606000-36606600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:36606000-36606600	Active TSS	Duodenum Mucosa	Duodenum
29	chr5:36606000-36606600	Flanking Active TSS	Hela-S3	cervix
30	chr5:36606000-36607200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:36606000-36607200	Active TSS	Fetal Muscle Trunk	muscle
32	chr5:36606000-36607400	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:36606000-36607600	Active TSS	Fetal Intestine Small	intestine
34	chr5:36606000-36607600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr5:36606000-36607600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
36	chr5:36606000-36607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:36606000-36607800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:36606000-36607800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr5:36606000-36607800	Active TSS	Stomach Smooth Muscle	stomach
40	chr5:36606000-36607800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr5:36606000-36607800	Active TSS	NHLF	lung
42	chr5:36606000-36608000	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr5:36606000-36608200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr5:36606000-36608200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:36606000-36608200	Active TSS	Brain Angular Gyrus	brain
46	chr5:36606000-36608200	Active TSS	Placenta	Placenta
47	chr5:36606000-36608200	Active TSS	Ovary	ovary
48	chr5:36606000-36608200	Active TSS	HSMMtube	muscle
49	chr5:36606000-36608400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr5:36606000-36608400	Bivalent/Poised TSS	Fetal Lung	lung

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