Variant report

Variant	rs73934448
Chromosome Location	chr2:54778574-54778575
allele	C/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:0)
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	JUND	chr2:54778298-54778594	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr2:54778418-54778758	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr2:54778321-54778641	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr2:54778366-54778758	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr2:54778388-54778744	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr2:54778434-54778661	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF3	chr2:54778167-54778618	GM12878	blood:	n/a	chr2:54778343-54778352 chr2:54778340-54778355
8	TEAD4	chr2:54778246-54778759	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr2:54778125-54778786	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr2:54778298-54778731	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr2:54778279-54778637	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr2:54778200-54778675	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:54777010..54778863-chr2:54780329..54781851,2	MCF-7	breast:
2	chr2:54777753..54780191-chr2:54782738..54786905,5	K562	blood:
3	chr2:54763693..54765544-chr2:54775882..54778958,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234943	TF binding region
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2228366	1.00[AFR][1000 genomes]
rs55874850	1.00[AFR][1000 genomes]
rs56116715	0.90[AFR][1000 genomes]
rs56222220	1.00[AFR][1000 genomes]
rs56275380	0.90[AFR][1000 genomes]
rs56672607	1.00[AFR][1000 genomes]
rs57638221	1.00[AFR][1000 genomes]
rs58085727	1.00[AFR][1000 genomes]
rs59719174	0.95[AFR][1000 genomes]
rs60427184	1.00[AFR][1000 genomes]
rs73934322	0.95[AFR][1000 genomes]
rs73934324	0.95[AFR][1000 genomes]
rs73934328	1.00[AFR][1000 genomes]
rs73934449	1.00[AFR][1000 genomes]
rs73934491	1.00[AFR][1000 genomes]
rs73934499	1.00[AFR][1000 genomes]
rs73934500	1.00[AFR][1000 genomes]
rs73937503	1.00[AFR][1000 genomes]
rs73937508	1.00[AFR][1000 genomes]
rs73937509	1.00[AFR][1000 genomes]
rs73937512	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54768200-54783800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:54770400-54782000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:54770600-54780200	Enhancers	Fetal Intestine Large	intestine
4	chr2:54771600-54783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:54772600-54778800	Enhancers	Brain Anterior Caudate	brain
6	chr2:54772600-54780200	Enhancers	Fetal Intestine Small	intestine
7	chr2:54773400-54784000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:54773400-54784000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:54773800-54782200	Weak transcription	Ovary	ovary
10	chr2:54774000-54779200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:54774000-54782400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:54774000-54782400	Weak transcription	Osteobl	bone
13	chr2:54774200-54779800	Weak transcription	NHDF-Ad	bronchial
14	chr2:54774800-54778800	Enhancers	Brain Hippocampus Middle	brain
15	chr2:54774800-54781800	Weak transcription	Liver	Liver
16	chr2:54774800-54782400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:54775400-54778600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:54775400-54778800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:54775400-54778800	Enhancers	Right Atrium	heart
20	chr2:54775400-54778800	Enhancers	Right Ventricle	heart
21	chr2:54775400-54778800	Enhancers	Small Intestine	intestine
22	chr2:54775400-54778800	Enhancers	Stomach Mucosa	stomach
23	chr2:54775400-54778800	Enhancers	HMEC	breast
24	chr2:54775400-54779000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:54775400-54779200	Genic enhancers	HepG2	liver
26	chr2:54775600-54779400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:54775800-54778600	Enhancers	Brain Angular Gyrus	brain
28	chr2:54775800-54780600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:54775800-54782400	Weak transcription	HSMM	muscle
30	chr2:54776600-54778600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:54776600-54778800	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:54776600-54778800	Enhancers	NHEK	skin
33	chr2:54776800-54778800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:54776800-54778800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:54776800-54779400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:54776800-54780200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:54776800-54780200	Enhancers	Pancreas	Pancrea
38	chr2:54777000-54778800	Enhancers	Fetal Thymus	thymus
39	chr2:54777000-54780200	Enhancers	Lung	lung
40	chr2:54777000-54782000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:54777200-54783600	Weak transcription	Fetal Stomach	stomach
42	chr2:54777400-54778600	Enhancers	A549	lung
43	chr2:54777400-54778800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:54777400-54778800	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:54777400-54779400	Enhancers	GM12878-XiMat	blood
46	chr2:54777400-54779600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:54777600-54778800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:54777600-54778800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:54777600-54778800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr2:54777600-54779200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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