Variant report

Variant	rs72649996
Chromosome Location	chr1:214452123-214452124
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:214452108-214452477	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:214452096-214452424	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:214449888-214452598	K562	blood:	n/a	n/a
4	NR3C1	chr1:214452108-214452476	A549	lung:	n/a	n/a
5	SETDB1	chr1:214450872-214452156	U2OS	brain:	n/a	n/a
6	POLR2A	chr1:214450111-214452555	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:214451928-214452450	HUVEC	blood vessel:	n/a	n/a
8	NR3C1	chr1:214452100-214452507	A549	lung:	n/a	n/a
9	POLR2A	chr1:214451763-214452419	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:214451887-214452415	MCF10A-Er-Src	breast:	n/a	n/a
11	KAP1	chr1:214450595-214452487	HEK293	kidney:	n/a	n/a
12	POLR2A	chr1:214451740-214452425	Raji	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:214450142..214452854-chr1:214468373..214471218,3	K562	blood:
2	chr1:214450853..214454119-chr1:214469233..214472526,4	K562	blood:
3	chr1:214451440..214454352-chr1:214497231..214500800,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN14-2	chr1:214452057-214452637	XLOC_001200

No data

Variant related genes	Relation type
SMYD2	TF binding region

rs_ID	r²[population]
rs67190151	0.88[ASN][1000 genomes]
rs72649995	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72649997	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214437400-214453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:214445000-214453200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:214445200-214453000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:214445200-214453200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:214445600-214453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:214445600-214453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:214445600-214453400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:214445800-214453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:214445800-214453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:214445800-214453200	Weak transcription	Fetal Lung	lung
11	chr1:214448200-214453200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:214449000-214453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:214449000-214453200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:214449200-214453200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:214449400-214453200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:214449600-214453200	Weak transcription	Fetal Intestine Large	intestine
17	chr1:214449600-214453400	Weak transcription	K562	blood
18	chr1:214449600-214453600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:214449600-214453600	Weak transcription	Stomach Mucosa	stomach
20	chr1:214450200-214453200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:214450200-214453400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:214450200-214453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:214450400-214452600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:214450600-214452200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:214450600-214452600	Flanking Active TSS	Fetal Heart	heart
26	chr1:214450600-214453200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:214450600-214453200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:214450600-214453400	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:214450800-214453600	Weak transcription	Right Ventricle	heart
30	chr1:214451000-214453400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:214451200-214452200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:214451200-214453600	Weak transcription	HSMMtube	muscle
33	chr1:214451400-214452200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:214451400-214452600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:214451400-214453200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:214451600-214452200	Enhancers	Osteobl	bone
37	chr1:214451600-214452400	Enhancers	Right Atrium	heart
38	chr1:214451800-214452200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:214451800-214452200	Enhancers	Brain Germinal Matrix	brain
40	chr1:214451800-214452400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:214451800-214452400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:214451800-214452400	Enhancers	Spleen	Spleen
43	chr1:214451800-214452600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:214451800-214452600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:214451800-214452600	Enhancers	Fetal Thymus	thymus
46	chr1:214451800-214452600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:214452000-214452200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:214452000-214452200	Enhancers	Fetal Brain Male	brain
49	chr1:214452000-214452200	Enhancers	Gastric	stomach
50	chr1:214452000-214452200	Enhancers	Left Ventricle	heart

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