Variant report

Variant	rs574456415
Chromosome Location	chr2:189841624-189841625
allele	A/G
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	CTCF	chr2:189841475-189841718	MCF-7	breast:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
2	CTCF	chr2:189841500-189841650	HMF	breast:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
3	CTCF	chr2:189841541-189841662	SK-N-SH_RA	brain:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
4	CTCF	chr2:189841500-189841650	AG09309	skin:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
5	RAD21	chr2:189841161-189841802	IMR90	lung:	n/a	chr2:189841577-189841596 chr2:189841586-189841595
6	CTCF	chr2:189841545-189841668	ProgFib	skin:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
7	SMC3	chr2:189841502-189841687	GM12878	blood:	n/a	chr2:189841581-189841595
8	RAD21	chr2:189841441-189841751	HepG2	liver:	n/a	chr2:189841577-189841596 chr2:189841586-189841595
9	CTCF	chr2:189841558-189841663	MCF-7	breast:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
10	TCF12	chr2:189841094-189841913	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr2:189841500-189841650	HRPEpiC	eye:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
12	MXI1	chr2:189840143-189841674	IMR90	lung:	n/a	n/a
13	CTCF	chr2:189841520-189841670	HCT-116	colon:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
14	CTCF	chr2:189841520-189841670	HBMEC	blood vessel:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
15	CTCF	chr2:189841528-189841659	LNCaP	prostate:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
16	CTCF	chr2:189841295-189841750	MCF-7	breast:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
17	CTCF	chr2:189841530-189841653	GM20000	blood:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
18	RAD21	chr2:189841469-189841701	SK-N-SH_RA	brain:	n/a	chr2:189841577-189841596 chr2:189841586-189841595
19	POLR2A	chr2:189838863-189842414	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr2:189841520-189841670	AG04449	skin:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
21	CTCF	chr2:189841540-189841690	NHEK	skin:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
22	CTCF	chr2:189841560-189841710	NB4	blood:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
23	FOXP2	chr2:189841425-189841786	SK-N-MC	brain:	n/a	n/a
24	CTCF	chr2:189841480-189841630	HCM	heart:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
25	CTCF	chr2:189841499-189841702	Gliobla	brain:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
26	CTCF	chr2:189841480-189841630	AoAF	blood vessel:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
27	CTCF	chr2:189841540-189841690	SAEC	small airway:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
28	CTCF	chr2:189841620-189841770	HAc	cerebellar:	n/a	n/a
29	CTCF	chr2:189841520-189841670	BJ	skin:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
30	CTCF	chr2:189841560-189841710	HVMF	connective:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
31	RAD21	chr2:189841484-189841649	HepG2	liver:	n/a	chr2:189841577-189841596 chr2:189841586-189841595
32	CTCF	chr2:189841620-189841770	HFF-Myc	foreskin:	n/a	n/a
33	GATA3	chr2:189840047-189842363	SK-N-SH	brain:	n/a	chr2:189842247-189842257
34	CTCF	chr2:189841451-189841749	HUVEC	blood vessel:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
35	CTCF	chr2:189841520-189841670	HPAF	blood vessel:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
36	RAD21	chr2:189841499-189841670	GM12878	blood:	n/a	chr2:189841577-189841596 chr2:189841586-189841595
37	CTCF	chr2:189841500-189841650	HCPEpiC	choroid plexus:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
38	SMC3	chr2:189841460-189841745	HepG2	liver:	n/a	chr2:189841581-189841595
39	CTCF	chr2:189841520-189841670	AG09319	gingival:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
40	CTCF	chr2:189841500-189841650	HPF	lung:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
41	CTCF	chr2:189841386-189841794	HepG2	liver:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
42	CTCF	chr2:189841387-189841798	IMR90	lung:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
43	CTCF	chr2:189841278-189841930	SK-N-SH	brain:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
44	FOXA1	chr2:189841434-189841668	T-47D	breast:	n/a	n/a
45	PBX3	chr2:189841231-189841887	SK-N-SH	brain:	n/a	n/a
46	YY1	chr2:189841366-189841812	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr2:189841500-189841650	HEEpiC	esophagus:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
48	CTCF	chr2:189841480-189841630	SK-N-SH_RA	brain:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597
49	FOSL2	chr2:189841277-189841810	SK-N-SH	brain:	n/a	chr2:189841722-189841731
50	CTCF	chr2:189841540-189841690	Caco-2	colon:	n/a	chr2:189841574-189841595 chr2:189841586-189841593 chr2:189841580-189841596 chr2:189841579-189841597

No.	Distal block	Cell Line	Cell type
1	chr2:188459276..188460160-chr2:189841055..189841647,2	MCF-7	breast:
2	chr2:189630030..189631002-chr2:189840905..189842141,9	MCF-7	breast:
3	chr2:189389424..189389930-chr2:189841189..189841702,2	MCF-7	breast:

Variant related genes	Relation type
MIR1245A	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459992	chr2:189796272-189855943	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv584057	chr2:189796272-189855943	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875609	chr2:189796272-189862097	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv584058	chr2:189799499-189855943	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	esv1791841	chr2:189811074-189864582	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv584059	chr2:189841052-189868381	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv875612	chr2:189841052-189878769	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189834200-189842800	Weak transcription	A549	lung
2	chr2:189837400-189844000	Active TSS	NHDF-Ad	bronchial
3	chr2:189837800-189842800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:189837800-189844800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:189838000-189844600	Active TSS	Right Atrium	heart
6	chr2:189838000-189844800	Active TSS	Adipose Nuclei	Adipose
7	chr2:189838000-189844800	Active TSS	NHLF	lung
8	chr2:189838200-189843000	Active TSS	Fetal Lung	lung
9	chr2:189838200-189844800	Active TSS	Fetal Stomach	stomach
10	chr2:189838200-189846000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:189838200-189849400	Active TSS	Fetal Muscle Leg	muscle
12	chr2:189838400-189842200	Active TSS	NH-A	brain
13	chr2:189838400-189843400	Active TSS	Fetal Intestine Small	intestine
14	chr2:189838400-189844400	Active TSS	Fetal Intestine Large	intestine
15	chr2:189838400-189844600	Active TSS	Fetal Kidney	kidney
16	chr2:189838400-189844600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:189838400-189844800	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:189838400-189845000	Active TSS	HSMMtube	muscle
19	chr2:189838600-189843000	Active TSS	Aorta	Aorta
20	chr2:189838600-189843000	Active TSS	HSMM	muscle
21	chr2:189838600-189843600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:189838600-189844600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189838600-189844600	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:189838600-189844800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:189838600-189844800	Active TSS	Colon Smooth Muscle	Colon
26	chr2:189838600-189844800	Active TSS	Ovary	ovary
27	chr2:189838800-189842400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:189838800-189843000	Active TSS	Placenta	Placenta
29	chr2:189838800-189843600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr2:189838800-189843600	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:189838800-189844000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:189839000-189841800	Active TSS	Colonic Mucosa	Colon
33	chr2:189839000-189842200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:189839000-189842400	Active TSS	Duodenum Mucosa	Duodenum
35	chr2:189839000-189842400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:189839000-189843400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:189839200-189842400	Active TSS	Fetal Brain Male	brain
38	chr2:189839200-189843600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:189839400-189858000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:189839800-189843600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:189840600-189844400	Active TSS	Psoas Muscle	Psoas
42	chr2:189840800-189843200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:189841200-189842200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:189841200-189843000	Enhancers	HUVEC	blood vessel
45	chr2:189841400-189841800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:189841400-189864000	Weak transcription	Left Ventricle	heart
47	chr2:189841600-189841800	Flanking Active TSS	Osteobl	bone
48	chr2:189841600-189842200	Weak transcription	Right Ventricle	heart

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