Variant report

Variant	rs530007029
Chromosome Location	chr3:138043816-138043817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr3:138043323-138044138	HUVEC	blood vessel:	n/a	chr3:138043852-138043863 chr3:138043497-138043507

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138043797-138043847	GM19239	blood:	n/a
2	chr3:138043797-138043847	BJ	skin:	n/a
3	chr3:138043797-138043847	MCF-7	breast:	n/a
4	chr3:138043797-138043847	PrEC	prostate:	n/a
5	chr3:138043797-138043847	HAEpiC	amniotic membrane:	n/a
6	chr3:138043797-138043847	AG04449	skin:	fetal
7	chr3:138043797-138043847	PANC-1	pancreas:	n/a
8	chr3:138043797-138043847	T-47D	breast:	n/a
9	chr3:138043797-138043847	MCF10A-Er-Src	breast:	n/a
10	chr3:138043797-138043847	HIPEpiC	eye:	n/a
11	chr3:138043797-138043847	Caco-2	colon:	n/a
12	chr3:138043797-138043847	NHDF-neo	bronchial:	n/a
13	chr3:138043797-138043847	HCPEpiC	choroid plexus:	n/a
14	chr3:138043797-138043847	HMEC	breast:	n/a
15	chr3:138043797-138043847	GM12891	blood:	n/a
16	chr3:138043797-138043847	AoSMC	blood vessel:	n/a
17	chr3:138043797-138043847	NB4	blood:	n/a
18	chr3:138043797-138043847	HRPEpiC	eye:	n/a
19	chr3:138043797-138043847	Jurkat	blood:	n/a
20	chr3:138043797-138043847	HCT-116	colon:	n/a
21	chr3:138043797-138043847	HRCEpiC	kidney:	n/a
22	chr3:138043797-138043847	PFSK-1	brain:	n/a
23	chr3:138043797-138043847	HRE	kidney:	n/a
24	chr3:138043797-138043847	AG09309	skin:	n/a
25	chr3:138043797-138043847	NH-A	brain:	n/a
26	chr3:138043797-138043847	HUVEC	blood vessel:	n/a
27	chr3:138043797-138043847	HEK293	kidney:	embryo
28	chr3:138043797-138043847	AG09319	gingival:	n/a
29	chr3:138043797-138043847	HNPCEpiC	eye:	n/a
30	chr3:138043797-138043847	HL-60	blood:	n/a
31	chr3:138043797-138043847	SKMC	muscle:	n/a
32	chr3:138043797-138043847	A549	lung:	n/a
33	chr3:138043797-138043847	GM12892	blood:	n/a
34	chr3:138043797-138043847	K562	blood:	n/a
35	chr3:138043797-138043847	GM12878	blood:	n/a
36	chr3:138043797-138043847	IMR90	lung:	fetal
37	chr3:138043797-138043847	LNCaP	prostate:	n/a
38	chr3:138043797-138043847	ECC-1	luminal epithelium:	n/a
39	chr3:138043797-138043847	ProgFib	skin:	n/a
40	chr3:138043797-138043847	U87	brain:	n/a
41	chr3:138043797-138043847	NHBE	bronchial:	n/a
42	chr3:138043797-138043847	HCM	heart:	n/a
43	chr3:138043797-138043847	HCF	heart:	n/a
44	chr3:138043797-138043847	GM06990	blood:	n/a
45	chr3:138043797-138043847	NT2-D1	testis:	n/a
46	chr3:138043797-138043847	AG10803	skin:	n/a
47	chr3:138043797-138043847	SK-N-SH	brain:	n/a
48	chr3:138043797-138043847	Hela-S3	cervix:	n/a
49	chr3:138043797-138043847	HPAEpiC	pulmonary alveolar:	n/a
50	chr3:138043797-138043847	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138043371..138046599-chr3:138047282..138051436,3	K562	blood:
2	chr3:138042389..138044114-chr3:138065779..138068075,2	K562	blood:

No data

Variant related genes	Relation type
NME9	TF binding region
NME9	CpG island
ENSG00000158186	Chromatin interaction
ENSG00000181322	Chromatin interaction

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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1821595	chr3:138043128-138055402	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138028800-138046600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:138035600-138046800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:138038600-138048200	Weak transcription	Gastric	stomach
4	chr3:138041400-138044200	Enhancers	Adipose Nuclei	Adipose
5	chr3:138041400-138047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:138041600-138044000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:138041600-138045200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:138041600-138047400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:138041800-138047400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:138041800-138047400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:138042000-138046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:138042000-138047400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:138042000-138047400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:138042000-138048000	Weak transcription	Esophagus	oesophagus
15	chr3:138042200-138047200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:138042400-138045200	Weak transcription	Placenta	Placenta
17	chr3:138042400-138047400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr3:138042400-138047400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:138042400-138047400	Enhancers	NHEK	skin
20	chr3:138042600-138044200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:138042600-138047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:138042800-138044000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:138042800-138044000	Enhancers	HUVEC	blood vessel
24	chr3:138042800-138044200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:138042800-138044200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:138042800-138047200	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:138043200-138046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:138043400-138044800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:138043400-138047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:138043400-138047400	Weak transcription	K562	blood
31	chr3:138043600-138046400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:138043600-138046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:138043600-138047200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:138043800-138044800	Weak transcription	HMEC	breast
35	chr3:138043800-138047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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