Variant report

Variant	rs66727805
Chromosome Location	chr2:234475735-234475736
allele	-/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	SP1	chr2:234474627-234475749	A549	lung:	n/a	chr2:234474804-234474818 chr2:234474797-234474811 chr2:234474823-234474832
2	POLR2A	chr2:234474624-234475742	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr2:234475046-234475751	ECC-1	luminal epithelium:	n/a	n/a
4	MYBL2	chr2:234474834-234475815	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:234474460-234475748	K562	blood:	n/a	n/a
6	SP1	chr2:234474628-234475760	A549	lung:	n/a	chr2:234474804-234474818 chr2:234474797-234474811 chr2:234474823-234474832
7	POLR2A	chr2:234474545-234475737	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:234473069-234475737	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:234474629-234475861	SK-N-MC	brain:	n/a	n/a
10	HEY1	chr2:234474426-234475858	HepG2	liver:	n/a	chr2:234475308-234475323 chr2:234475462-234475477 chr2:234475464-234475479
11	POLR2A	chr2:234474746-234475735	K562	blood:	n/a	n/a
12	POLR2A	chr2:234474752-234475863	Hela-S3	cervix:	n/a	n/a
13	E2F4	chr2:234475295-234475736	MCF10A-Er-Src	breast:	n/a	chr2:234475310-234475320
14	SIX5	chr2:234475004-234475819	A549	lung:	n/a	chr2:234475500-234475509
15	POLR2A	chr2:234474665-234475802	K562	blood:	n/a	n/a
16	POLR2A	chr2:234474855-234475743	HCT-116	colon:	n/a	n/a
17	GATA2	chr2:234475453-234475951	K562	blood:	n/a	n/a
18	POLR2A	chr2:234474536-234475750	HUVEC	blood vessel:	n/a	n/a
19	TAF1	chr2:234474655-234475788	A549	lung:	n/a	n/a
20	POLR2A	chr2:234475086-234475738	U87	brain:	n/a	n/a
21	POLR2A	chr2:234474812-234475758	A549	lung:	n/a	n/a
22	POLR2A	chr2:234474379-234475774	U87	brain:	n/a	n/a
23	POLR2A	chr2:234474519-234475767	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
2	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
3	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
4	chr2:234400872..234402381-chr2:234473582..234476254,2	MCF-7	breast:
5	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
6	chr2:234389092..234391362-chr2:234473035..234476486,3	MCF-7	breast:
7	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:

Variant related genes	Relation type
USP40	TF binding region
ENSG00000123485	Chromatin interaction
ENSG00000240224	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000085982	Chromatin interaction

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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv3354779	chr2:234474774-234478122	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3388163	chr2:234474849-234477847	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3514380	chr2:234475056-234477535	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
8	esv2594574	chr2:234475591-234477600	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1496440	chr2:234475709-234475736	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234474000-234475800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:234474000-234475800	Active TSS	Right Atrium	heart
3	chr2:234474000-234475800	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:234474200-234475800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:234474200-234475800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:234474200-234475800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:234474200-234475800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:234474200-234475800	Active TSS	Fetal Intestine Small	intestine
9	chr2:234474200-234475800	Active TSS	Psoas Muscle	Psoas
10	chr2:234474200-234475800	Active TSS	Thymus	Thymus
11	chr2:234474400-234475800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr2:234474400-234475800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr2:234474400-234475800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:234474400-234475800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:234474400-234475800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:234474400-234475800	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr2:234474400-234475800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:234474400-234475800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:234474400-234475800	Active TSS	Colonic Mucosa	Colon
20	chr2:234474400-234475800	Active TSS	Fetal Intestine Large	intestine
21	chr2:234474400-234475800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:234474400-234475800	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:234474400-234475800	Active TSS	Fetal Muscle Leg	muscle
24	chr2:234474400-234475800	Active TSS	Fetal Stomach	stomach
25	chr2:234474400-234475800	Active TSS	Rectal Smooth Muscle	rectum
26	chr2:234474400-234475800	Active TSS	Right Ventricle	heart
27	chr2:234474400-234475800	Active TSS	HSMM	muscle
28	chr2:234474400-234475800	Active TSS	K562	blood
29	chr2:234474600-234475800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:234474600-234475800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:234474600-234475800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:234474600-234475800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:234474600-234475800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:234474600-234475800	Active TSS	Primary B cells from peripheral blood	blood
35	chr2:234474600-234475800	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr2:234474600-234475800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:234474600-234475800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:234474600-234475800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:234474600-234475800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:234474600-234475800	Active TSS	Adipose Nuclei	Adipose
41	chr2:234474600-234475800	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:234474600-234475800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr2:234474600-234475800	Active TSS	Fetal Kidney	kidney
44	chr2:234474600-234475800	Active TSS	Fetal Lung	lung
45	chr2:234474600-234475800	Active TSS	Fetal Thymus	thymus
46	chr2:234474600-234475800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:234474600-234475800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:234474600-234475800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:234474600-234475800	Active TSS	Hela-S3	cervix
50	chr2:234474600-234475800	Active TSS	HMEC	breast

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