Variant report

Variant	rs557018647
Chromosome Location	chr2:74424924-74424925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr2:74424888-74426757	K562	blood:	n/a	n/a
2	JUN	chr2:74423469-74427661	K562	blood:	n/a	chr2:74425683-74425692 chr2:74426151-74426160
3	CTCF	chr2:74424586-74427336	A549	lung:	n/a	chr2:74426386-74426399
4	POLR2A	chr2:74424020-74429252	H1-hESC	embryonic stem cell:	n/a	n/a
5	RFX5	chr2:74424631-74427599	SK-N-SH	brain:	n/a	n/a
6	CBX3	chr2:74424919-74426515	K562	blood:	n/a	n/a
7	HCFC1	chr2:74424892-74426830	Hela-S3	cervix:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
2	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
3	chr2:74423959..74426234-chr2:74728911..74730811,4	K562	blood:
4	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
5	chr2:74424267..74426205-chr2:74476345..74478878,2	MCF-7	breast:
6	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
7	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
8	chr2:74207001..74208760-chr2:74424534..74426983,2	MCF-7	breast:
9	chr2:74424191..74425916-chr2:74756142..74757676,2	K562	blood:
10	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
11	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
12	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
13	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
14	chr2:74424051..74426811-chr2:74698289..74699842,2	K562	blood:
15	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
16	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
17	chr2:74423897..74425896-chr2:74778164..74780154,2	K562	blood:
18	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
19	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
20	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
21	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
22	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
23	chr15:65278048..65279846-chr2:74424472..74426316,2	K562	blood:
24	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:
25	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC4A5-1	chr2:74423831-74425682	NONHSAT071675

No data

Variant related genes	Relation type
MTHFD2	TF binding region
ENSG00000115317	Chromatin interaction
ENSG00000204822	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000179528	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000257702	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000115318	Chromatin interaction
ENSG00000090487	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000217702	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	esv3342573	chr2:74424669-74427217	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:74417200-74425000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:74417600-74425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:74419600-74425200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:74419800-74425000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:74419800-74425200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:74420000-74425200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:74422200-74425000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:74423600-74425200	Enhancers	HepG2	liver
11	chr2:74424000-74425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:74424200-74425000	Enhancers	Dnd41	blood
13	chr2:74424200-74425000	Enhancers	Hela-S3	cervix
14	chr2:74424400-74425200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:74424400-74425400	Enhancers	Pancreas	Pancrea
16	chr2:74424600-74425000	Enhancers	K562	blood
17	chr2:74424600-74425200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:74424800-74425000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:74424800-74425000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:74424800-74425000	Active TSS	A549	lung
21	chr2:74424800-74425000	Enhancers	GM12878-XiMat	blood
22	chr2:74424800-74425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:74424800-74425200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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